Variant report

Variant	nsv523346
Chromosome Location	chr6:30882513-30893941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:30881787-30882995	K562	blood:	n/a	n/a
2	BCL3	chr6:30882005-30882607	A549	lung:	n/a	n/a
3	BHLHE40	chr6:30881884-30882819	K562	blood:	n/a	n/a
4	BHLHE40	chr6:30883403-30883759	K562	blood:	n/a	n/a
5	BRCA1	chr6:30883390-30883528	HepG2	liver:	n/a	n/a
6	BRCA1	chr6:30882152-30882526	GM12878	blood:	n/a	n/a
7	CBX3	chr6:30881734-30882968	K562	blood:	n/a	n/a
8	CBX3	chr6:30883216-30883677	K562	blood:	n/a	chr6:30883260-30883271
9	CCNT2	chr6:30881633-30882887	K562	blood:	n/a	n/a
10	CEBPD	chr6:30881527-30882530	HepG2	liver:	n/a	n/a
11	CHD2	chr6:30881944-30883329	K562	blood:	n/a	n/a
12	CHD2	chr6:30883539-30883612	K562	blood:	n/a	n/a
13	CTCF	chr6:30883380-30883530	HBMEC	blood vessel:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
14	CTCF	chr6:30883185-30883680	A549	lung:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
15	CTCF	chr6:30884040-30884190	GM06990	blood:	n/a	n/a
16	CTCF	chr6:30883360-30883510	AG04450	lung:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
17	CTCF	chr6:30890300-30890403	MCF-7	breast:	n/a	chr6:30890349-30890357
18	CTCF	chr6:30883167-30883672	MCF-7	breast:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
19	CTCF	chr6:30883380-30883530	HCPEpiC	choroid plexus:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
20	CTCF	chr6:30883320-30883470	HUVEC	blood vessel:	n/a	chr6:30883454-30883470
21	CTCF	chr6:30883360-30883510	GM12875	blood:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
22	CTCF	chr6:30883380-30883530	HCT-116	colon:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
23	CTCF	chr6:30883341-30883612	GM19238	blood:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
24	CTCF	chr6:30883460-30883610	HFF-Myc	foreskin:	n/a	n/a
25	CTCF	chr6:30883420-30883570	AG09309	skin:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
26	CTCF	chr6:30882740-30882890	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr6:30882830-30883937	HCT-116	colon:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
28	CTCF	chr6:30883400-30883550	HMF	breast:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
29	CTCF	chr6:30883315-30883610	A549	lung:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
30	CTCF	chr6:30883360-30883575	GM10248	blood:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
31	CTCF	chr6:30882420-30882570	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr6:30883371-30883578	GM13976	blood:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
33	CTCF	chr6:30883380-30883530	HAc	cerebellar:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
34	CTCF	chr6:30883336-30883612	SK-N-SH_RA	brain:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
35	CTCF	chr6:30883400-30883550	GM12864	blood:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
36	CTCF	chr6:30882500-30882650	NHEK	skin:	n/a	n/a
37	CTCF	chr6:30883280-30883430	HFF	foreskin:	n/a	n/a
38	CTCF	chr6:30883400-30883550	GM12868	blood:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
39	CTCF	chr6:30883380-30883530	HPF	lung:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
40	CTCF	chr6:30883420-30883570	HUVEC	blood vessel:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
41	CTCF	chr6:30883330-30883587	HepG2	liver:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
42	CTCF	chr6:30883347-30883600	ECC-1	luminal epithelium:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
43	CTCF	chr6:30883208-30883676	HepG2	liver:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
44	CTCF	chr6:30882400-30882550	HAc	cerebellar:	n/a	n/a
45	CTCF	chr6:30882920-30883070	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr6:30883372-30883617	GM19239	blood:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
47	CTCF	chr6:30883302-30883636	GM12892	blood:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
48	CTCF	chr6:30883380-30883530	HVMF	connective:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
49	CTCF	chr6:30883400-30883550	NHEK	skin:	n/a	chr6:30883455-30883476 chr6:30883454-30883470
50	CTCF	chr6:30883380-30883530	HA-sp	spinal cord:	n/a	chr6:30883455-30883476 chr6:30883454-30883470

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30883762-30883812	Hepatocyte	liver:	n/a
2	chr6:30885460-30885510	SAEC	small airway:	n/a
3	chr6:30883762-30883812	Hepatocyte	liver:	n/a
4	chr6:30885460-30885510	SAEC	small airway:	n/a
5	chr6:30885141-30885191	HEEpiC	esophagus:	n/a
6	chr6:30884915-30884965	SK-N-SH	brain:	n/a
7	chr6:30882694-30882744	RPTEC	kidney:	n/a
8	chr6:30884928-30884978	A549	lung:	n/a
9	chr6:30885800-30885850	H1-hESC	embryonic stem cell:	embryo
10	chr6:30884713-30884763	CMK	blood:	n/a
11	chr6:30882694-30882744	GM12878	blood:	n/a
12	chr6:30883192-30883242	HCF	heart:	n/a
13	chr6:30884915-30884965	NH-A	brain:	n/a
14	chr6:30884124-30884174	PFSK-1	brain:	n/a
15	chr6:30882671-30882721	MCF-7	breast:	n/a
16	chr6:30882694-30882744	HEK293	kidney:	embryo
17	chr6:30884928-30884978	Jurkat	blood:	n/a
18	chr6:30882641-30882691	HAEpiC	amniotic membrane:	n/a
19	chr6:30883192-30883242	MCF-7	breast:	n/a
20	chr6:30885567-30885617	HMEC	breast:	n/a
21	chr6:30885800-30885850	HRCEpiC	kidney:	n/a
22	chr6:30889078-30889128	U87	brain:	n/a
23	chr6:30893133-30893183	PrEC	prostate:	n/a
24	chr6:30884590-30884640	GM12892	blood:	n/a
25	chr6:30885008-30885058	HCT-116	colon:	n/a
26	chr6:30893104-30893154	Jurkat	blood:	n/a
27	chr6:30882708-30882758	HNPCEpiC	eye:	n/a
28	chr6:30884928-30884978	CMK	blood:	n/a
29	chr6:30883959-30884009	CMK	blood:	n/a
30	chr6:30884124-30884174	U87	brain:	n/a
31	chr6:30885567-30885617	GM12892	blood:	n/a
32	chr6:30884590-30884640	PFSK-1	brain:	n/a
33	chr6:30889078-30889128	SK-N-MC	brain:	n/a
34	chr6:30883768-30883818	BJ	skin:	n/a
35	chr6:30883074-30883124	T-47D	breast:	n/a
36	chr6:30893133-30893183	AG10803	skin:	n/a
37	chr6:30889078-30889128	NB4	blood:	n/a
38	chr6:30884683-30884733	PrEC	prostate:	n/a
39	chr6:30882994-30883044	NHBE	bronchial:	n/a
40	chr6:30885008-30885058	AG09319	gingival:	n/a
41	chr6:30882694-30882744	PFSK-1	brain:	n/a
42	chr6:30882708-30882758	AG09319	gingival:	n/a
43	chr6:30884590-30884640	A549	lung:	n/a
44	chr6:30882671-30882721	AG04449	skin:	fetal
45	chr6:30885460-30885510	HEK293	kidney:	embryo
46	chr6:30885709-30885759	Hepatocyte	liver:	n/a
47	chr6:30882671-30882721	A549	lung:	n/a
48	chr6:30884915-30884965	MCF10A-Er-Src	breast:	n/a
49	chr6:30883001-30883051	HPAEpiC	pulmonary alveolar:	n/a
50	chr6:30884928-30884978	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30709669..30712213-chr6:30880810..30882538,2	MCF-7	breast:
2	chr6:30880736..30883349-chr6:30890122..30892611,2	MCF-7	breast:
3	chr6:30789462..30790321-chr6:30882992..30883906,2	K562	blood:
4	chr6:30888080..30889607-chr6:30890909..30892611,2	MCF-7	breast:
5	chr6:30523025..30525668-chr6:30880813..30884106,3	K562	blood:
6	chr6:30682386..30686066-chr6:30878897..30882722,4	K562	blood:
7	chr6:30881968..30885056-chr6:30885339..30888267,3	MCF-7	breast:
8	chr6:30881341..30883550-chr6:31049543..31052360,3	K562	blood:
9	chr6:30593365..30595936-chr6:30888888..30891859,2	K562	blood:
10	chr6:30874031..30876407-chr6:30886352..30887855,2	MCF-7	breast:
11	chr6:30883250..30883934-chr6:31010475..31011616,5	MCF-7	breast:
12	chr6:30880736..30883349-chr6:30890122..30892611,2	MCF-7	breast:
13	chr6:30883032..30883759-chr6:31011810..31012818,4	MCF-7	breast:
14	chr6:30881341..30883528-chr6:31050692..31052360,2	K562	blood:
15	chr6:30882935..30883738-chr6:31047207..31048204,5	MCF-7	breast:
16	chr6:30882042..30885135-chr6:30886350..30889389,4	MCF-7	breast:
17	chr6:30883149..30883983-chr6:31038127..31038765,2	MCF-7	breast:
18	chr6:30882829..30883945-chr6:31036385..31037390,5	MCF-7	breast:
19	chr6:30709387..30712006-chr6:30881214..30883426,2	K562	blood:
20	chr6:30891663..30894580-chr6:30900735..30902793,2	MCF-7	breast:
21	chr6:30847750..30851239-chr6:30880214..30883075,5	K562	blood:
22	chr6:30850869..30853262-chr6:30889505..30891289,2	MCF-7	breast:
23	chr6:30707880..30713865-chr6:30880456..30883497,7	MCF-7	breast:
24	chr6:30881791..30882519-chr9:33025130..33025732,2	NB4	blood:
25	chr6:30850840..30855328-chr6:30877838..30882665,10	MCF-7	breast:
26	chr6:30847750..30854588-chr6:30880214..30885422,8	K562	blood:
27	chr6:30881968..30885056-chr6:30885339..30888267,3	MCF-7	breast:
28	chr6:30889584..30892260-chr6:30907683..30910382,2	MCF-7	breast:
29	chr6:30881805..30883309-chr6:31050438..31053270,2	MCF-7	breast:
30	chr6:30843383..30845810-chr6:30880379..30882936,3	K562	blood:
31	chr6:30854396..30859063-chr6:30880954..30884819,5	K562	blood:
32	chr6:30887250..30888956-chr6:30920094..30923079,2	MCF-7	breast:
33	chr6:30882744..30883495-chr6:31055361..31056022,2	K562	blood:
34	chr6:30793814..30798702-chr6:30880453..30884092,5	K562	blood:
35	chr6:30883403..30884976-chr6:30908264..30911485,3	MCF-7	breast:
36	chr6:30844121..30846194-chr6:30880539..30883879,3	K562	blood:
37	chr6:30882042..30885135-chr6:30886350..30889389,4	MCF-7	breast:
38	chr6:30882036..30883658-chr6:31081525..31084682,3	MCF-7	breast:
39	chr6:30850549..30855941-chr6:30880357..30883667,13	MCF-7	breast:
40	chr6:30891056..30892872-chr6:30894478..30895984,2	MCF-7	breast:
41	chr6:30860099..30863681-chr6:30886781..30890707,3	K562	blood:
42	chr6:30882943..30883998-chr6:31010336..31011408,3	MCF-7	breast:
43	chr6:30851061..30852670-chr6:30885316..30887287,2	MCF-7	breast:
44	chr6:30882873..30883896-chr6:31038173..31038772,3	K562	blood:

Variant related genes	Relation type
VARS2	TF binding region
VARS2	CpG island
ENSG00000264594	chromatin interactions
ENSG00000137331	chromatin interactions
ENSG00000204590	chromatin interactions
ENSG00000086061	chromatin interactions
ENSG00000214894	chromatin interactions
ENSG00000264731	chromatin interactions
ENSG00000137337	chromatin interactions
ENSG00000204576	chromatin interactions
ENSG00000233529	chromatin interactions
ENSG00000137343	chromatin interactions
ENSG00000204540	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000137411	chromatin interactions
ENSG00000168631	chromatin interactions
ENSG00000272273	chromatin interactions
ENSG00000213780	chromatin interactions
ENSG00000237775	chromatin interactions
ENSG00000222895	chromatin interactions
ENSG00000204580	chromatin interactions
ENSG00000137074	chromatin interactions

Extended variants
information (count: 538 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:538 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1264303	chr6:30882513-30882514	Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185605280	chr6:30882565-30882566	Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs573189167	chr6:30882574-30882575	Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs189213912	chr6:30882595-30882596	Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs1264302	chr6:30882634-30882635	Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs145694863	chr6:30882636-30882637	Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs558435777	chr6:30882672-30882673	Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs6926224	chr6:30882689-30882690	Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs199534441	chr6:30882717-30882718	Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs372324408	chr6:30882725-30882726	Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs1264301	chr6:30882781-30882782	Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs6926723	chr6:30882803-30882804	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs375057578	chr6:30882824-30882825	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs529785150	chr6:30882838-30882839	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs1264300	chr6:30882856-30882857	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs375376279	chr6:30882914-30882915	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs55797560	chr6:30882916-30882917	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs548741773	chr6:30882957-30882958	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs532144650	chr6:30882960-30882961	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs367960344	chr6:30883017-30883018	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs552168643	chr6:30883044-30883045	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs148288015	chr6:30883061-30883062	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs181658379	chr6:30883089-30883090	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs370531184	chr6:30883098-30883099	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs551232750	chr6:30883150-30883151	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs199858134	chr6:30883163-30883164	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs372389658	chr6:30883179-30883180	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs538491552	chr6:30883193-30883194	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs375621020	chr6:30883210-30883211	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs184436050	chr6:30883231-30883232	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs553433480	chr6:30883279-30883280	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs188676932	chr6:30883284-30883285	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs539036441	chr6:30883307-30883308	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs181113695	chr6:30883319-30883320	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs112019077	chr6:30883344-30883345	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs575187757	chr6:30883511-30883512	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs544086093	chr6:30883521-30883522	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs551170975	chr6:30883558-30883559	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs554382361	chr6:30883560-30883561	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs141408930	chr6:30883561-30883562	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs540014430	chr6:30883567-30883568	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs560210168	chr6:30883583-30883584	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs150863068	chr6:30883589-30883590	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs112867406	chr6:30883614-30883615	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs374999734	chr6:30883615-30883616	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs369976906	chr6:30883620-30883621	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs199842648	chr6:30883639-30883640	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs369182131	chr6:30883723-30883724	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs545843798	chr6:30883728-30883729	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs373934544	chr6:30883734-30883735	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:695 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30881200-30883000	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr6:30881400-30882600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:30881400-30882600	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr6:30881400-30882600	Active TSS	Left Ventricle	heart
5	chr6:30881400-30882600	Active TSS	Psoas Muscle	Psoas
6	chr6:30881400-30882600	Active TSS	Right Ventricle	heart
7	chr6:30881400-30882800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:30881400-30882800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr6:30881400-30882800	Active TSS	Ovary	ovary
10	chr6:30881400-30883000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:30881400-30883600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:30881400-30884200	Active TSS	Esophagus	oesophagus
13	chr6:30881600-30882600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:30881600-30882600	Active TSS	Aorta	Aorta
15	chr6:30881600-30882600	Active TSS	Brain Angular Gyrus	brain
16	chr6:30881600-30882600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:30881600-30882600	Active TSS	Brain Substantia Nigra	brain
18	chr6:30881600-30882600	Active TSS	Colonic Mucosa	Colon
19	chr6:30881600-30882600	Active TSS	Gastric	stomach
20	chr6:30881600-30882600	Active TSS	Lung	lung
21	chr6:30881600-30882600	Active TSS	Rectal Smooth Muscle	rectum
22	chr6:30881600-30882600	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr6:30881600-30882600	Active TSS	A549	lung
24	chr6:30881600-30882800	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr6:30881600-30882800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr6:30881600-30882800	Flanking Active TSS	Osteobl	bone
27	chr6:30881600-30883000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr6:30881800-30882600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:30881800-30882600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:30881800-30882600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:30881800-30882600	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr6:30881800-30882600	Active TSS	Fetal Intestine Small	intestine
33	chr6:30881800-30882600	Active TSS	Small Intestine	intestine
34	chr6:30881800-30882600	Active TSS	Thymus	Thymus
35	chr6:30881800-30882600	Active TSS	GM12878-XiMat	blood
36	chr6:30882000-30882800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:30882000-30882800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
38	chr6:30882200-30882600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:30882200-30882600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:30882200-30882600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:30882200-30882800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:30882200-30882800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr6:30882200-30882800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr6:30882200-30882800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:30882200-30882800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr6:30882200-30882800	Flanking Active TSS	Fetal Brain Male	brain
47	chr6:30882200-30882800	Flanking Active TSS	HSMMtube	muscle
48	chr6:30882200-30882800	Flanking Active TSS	HUVEC	blood vessel
49	chr6:30882200-30882800	Flanking Active TSS	NH-A	brain
50	chr6:30882200-30883000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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