Variant report

Variant	nsv970104
Chromosome Location	chr6:30690935-30693035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:396)
CpG islands
(count:917)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr6:30692287-30694183	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr6:30690188-30691163	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr6:30692651-30694223	GM12878	blood:	n/a	n/a
4	ATF2	chr6:30692969-30694196	GM12878	blood:	n/a	n/a
5	ATF2	chr6:30692841-30693902	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr6:30692369-30694191	A549	lung:	n/a	n/a
7	BCL3	chr6:30692818-30694183	GM12878	blood:	n/a	n/a
8	BCL3	chr6:30690286-30691175	A549	lung:	n/a	n/a
9	BCL3	chr6:30692404-30693397	K562	blood:	n/a	n/a
10	BCL3	chr6:30692535-30694343	K562	blood:	n/a	n/a
11	BCL3	chr6:30692660-30694290	A549	lung:	n/a	n/a
12	BCLAF1	chr6:30692646-30694203	GM12878	blood:	n/a	n/a
13	BCLAF1	chr6:30692272-30694034	K562	blood:	n/a	n/a
14	BCLAF1	chr6:30690270-30691142	GM12878	blood:	n/a	n/a
15	BCLAF1	chr6:30692566-30693109	GM12878	blood:	n/a	n/a
16	BCLAF1	chr6:30692478-30694047	K562	blood:	n/a	n/a
17	BCLAF1	chr6:30690144-30690947	GM12878	blood:	n/a	n/a
18	CBX3	chr6:30690253-30691044	K562	blood:	n/a	n/a
19	CBX3	chr6:30692546-30692999	K562	blood:	n/a	n/a
20	CCNT2	chr6:30692562-30692762	K562	blood:	n/a	n/a
21	CEBPB	chr6:30692671-30694272	GM12878	blood:	n/a	n/a
22	CEBPB	chr6:30692536-30693825	K562	blood:	n/a	n/a
23	CEBPD	chr6:30692436-30694223	K562	blood:	n/a	n/a
24	CEBPD	chr6:30692585-30693123	K562	blood:	n/a	n/a
25	CHD1	chr6:30687140-30691175	IMR90	lung:	n/a	n/a
26	CHD2	chr6:30692670-30694160	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr6:30692675-30694863	K562	blood:	n/a	n/a
28	CTCF	chr6:30691876-30691944	GM12892	blood:	n/a	n/a
29	CTCF	chr6:30691800-30691950	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr6:30691873-30691950	HepG2	liver:	n/a	n/a
31	CTCF	chr6:30691857-30691943	GM10266	blood:	n/a	n/a
32	CTCF	chr6:30691820-30691970	HMEC	breast:	n/a	n/a
33	CTCF	chr6:30691820-30691970	AG04450	lung:	n/a	n/a
34	CTCF	chr6:30691298-30691349	GM10248	blood:	n/a	n/a
35	CTCF	chr6:30690940-30691090	AG04450	lung:	n/a	n/a
36	CTCF	chr6:30691740-30691990	BJ	skin:	n/a	n/a
37	CTCF	chr6:30691860-30692010	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr6:30691740-30691890	HPF	lung:	n/a	n/a
39	CTCF	chr6:30691800-30691950	AG04449	skin:	n/a	n/a
40	CTCF	chr6:30691876-30691952	Gliobla	brain:	n/a	n/a
41	CTCF	chr6:30691854-30691986	MCF-7	breast:	n/a	n/a
42	CTCF	chr6:30691817-30691988	ProgFib	skin:	n/a	n/a
43	CTCF	chr6:30691800-30691950	AG09309	skin:	n/a	n/a
44	CTCF	chr6:30690860-30691010	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr6:30691814-30691965	LNCaP	prostate:	n/a	n/a
46	CTCF	chr6:30691800-30691950	SAEC	small airway:	n/a	n/a
47	CTCF	chr6:30690900-30691050	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr6:30691840-30691990	HepG2	liver:	n/a	n/a
49	CTCF	chr6:30691840-30691990	AG04449	skin:	n/a	n/a
50	CTCF	chr6:30691855-30691977	MCF-7	breast:	n/a	n/a

(count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30691305-30691355	AG04450	lung:	fetal
2	chr6:30691984-30692034	Hepatocyte	liver:	n/a
3	chr6:30691305-30691355	AG04450	lung:	fetal
4	chr6:30691984-30692034	Hepatocyte	liver:	n/a
5	chr6:30691764-30691814	SKMC	muscle:	n/a
6	chr6:30691259-30691309	BJ	skin:	n/a
7	chr6:30691623-30691673	SK-N-SH	brain:	n/a
8	chr6:30691505-30691555	IMR90	lung:	fetal
9	chr6:30691764-30691814	GM12891	blood:	n/a
10	chr6:30692147-30692197	A549	lung:	n/a
11	chr6:30691760-30691810	AG09319	gingival:	n/a
12	chr6:30692147-30692197	SK-N-SH_RA	brain:	n/a
13	chr6:30691914-30691964	U87	brain:	n/a
14	chr6:30691984-30692034	SK-N-SH_RA	brain:	n/a
15	chr6:30691259-30691309	T-47D	breast:	n/a
16	chr6:30691764-30691814	PFSK-1	brain:	n/a
17	chr6:30691505-30691555	HRCEpiC	kidney:	n/a
18	chr6:30691623-30691673	GM19239	blood:	n/a
19	chr6:30691305-30691355	NHBE	bronchial:	n/a
20	chr6:30691699-30691749	HCF	heart:	n/a
21	chr6:30691984-30692034	RPTEC	kidney:	n/a
22	chr6:30691984-30692034	CMK	blood:	n/a
23	chr6:30691665-30691715	NHDF-neo	bronchial:	n/a
24	chr6:30691764-30691814	Jurkat	blood:	n/a
25	chr6:30691984-30692034	HEEpiC	esophagus:	n/a
26	chr6:30691665-30691715	PFSK-1	brain:	n/a
27	chr6:30691760-30691810	HIPEpiC	eye:	n/a
28	chr6:30691760-30691810	SAEC	small airway:	n/a
29	chr6:30692066-30692116	H1-hESC	embryonic stem cell:	embryo
30	chr6:30691305-30691355	HRCEpiC	kidney:	n/a
31	chr6:30691505-30691555	RPTEC	kidney:	n/a
32	chr6:30692066-30692116	ProgFib	skin:	n/a
33	chr6:30691259-30691309	BE2_C	brain:	n/a
34	chr6:30691259-30691309	AG04449	skin:	fetal
35	chr6:30691895-30691945	HEK293	kidney:	embryo
36	chr6:30691259-30691309	SK-N-SH	brain:	n/a
37	chr6:30691259-30691309	AoSMC	blood vessel:	n/a
38	chr6:30691984-30692034	K562	blood:	n/a
39	chr6:30691895-30691945	K562	blood:	n/a
40	chr6:30691259-30691309	HNPCEpiC	eye:	n/a
41	chr6:30692147-30692197	GM12892	blood:	n/a
42	chr6:30691895-30691945	HEEpiC	esophagus:	n/a
43	chr6:30691914-30691964	A549	lung:	n/a
44	chr6:30691760-30691810	NHDF-neo	bronchial:	n/a
45	chr6:30691623-30691673	HIPEpiC	eye:	n/a
46	chr6:30691683-30691733	HL-60	blood:	n/a
47	chr6:30691699-30691749	PrEC	prostate:	n/a
48	chr6:30691760-30691810	PANC-1	pancreas:	n/a
49	chr6:30691259-30691309	PANC-1	pancreas:	n/a
50	chr6:30692051-30692101	LNCaP	prostate:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30646446..30647403-chr6:30689906..30691430,10	K562	blood:
2	chr6:30451219..30453103-chr6:30692483..30694829,2	K562	blood:
3	chr6:30576582..30588788-chr6:30682721..30700088,114	K562	blood:
4	chr6:30574668..30575555-chr6:30690067..30690935,2	K562	blood:
5	chr6:30638422..30642374-chr6:30687329..30691225,7	MCF-7	breast:
6	chr6:30522151..30525852-chr6:30686505..30691954,11	K562	blood:
7	chr6:30692214..30695086-chr6:30900554..30903279,2	K562	blood:
8	chr6:30577773..30589670-chr6:30680333..30700280,58	MCF-7	breast:
9	chr6:30692885..30693719-chr6:43968705..43969609,2	Hela-S3	cervix:
10	chr6:30613134..30616889-chr6:30684889..30690956,7	MCF-7	breast:
11	chr13:41956378..41959414-chr6:30690779..30694701,5	K562	blood:
12	chr6:30692887..30695267-chr6:30900165..30903279,3	K562	blood:
13	chr6:30608315..30616989-chr6:30683761..30694958,31	K562	blood:
14	chr6:30689083..30692064-chr6:30851539..30853940,2	K562	blood:
15	chr6:30455790..30458568-chr6:30687436..30691942,4	MCF-7	breast:
16	chr6:30652479..30653370-chr6:30690436..30690984,2	K562	blood:
17	chr6:30691897..30694851-chr6:30760025..30762962,2	K562	blood:
18	chr6:30577862..30587208-chr6:30682997..30696247,43	MCF-7	breast:
19	chr6:30628328..30630913-chr6:30689339..30690997,2	K562	blood:
20	chr6:30510952..30513795-chr6:30691840..30693915,2	K562	blood:
21	chr3:156877387..156877977-chr6:30692681..30693212,2	Hela-S3	cervix:
22	chr6:30692018..30694762-chr6:30878588..30881246,2	K562	blood:
23	chr6:30643326..30660432-chr6:30681522..30696111,127	MCF-7	breast:
24	chr6:30687338..30691474-chr6:30850428..30854318,11	MCF-7	breast:
25	chr6:30646431..30647401-chr6:30690082..30691095,13	MCF-7	breast:
26	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:
27	chr6:30447631..30450065-chr6:30691817..30695001,3	K562	blood:
28	chr6:30646636..30647399-chr6:30690429..30691049,3	MCF-7	breast:

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	TUBB	hsa-miR-708-5p	chr6:30692804-30692826
2	TUBB	hsa-let-7b-5p	chr6:30692791-30692811
3	TUBB	hsa-miR-183-5p	chr6:30692411-30692435

Variant related genes	Relation type
ENSG00000272540	TF binding region
ENSG00000272540	CpG island
ENSG00000252761	chromatin interactions
ENSG00000163660	chromatin interactions
ENSG00000137343	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000204592	chromatin interactions
ENSG00000204580	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000214222	chromatin interactions
ENSG00000146112	chromatin interactions
ENSG00000204560	chromatin interactions
ENSG00000230449	chromatin interactions
ENSG00000204568	chromatin interactions
ENSG00000137404	chromatin interactions
ENSG00000204564	chromatin interactions
ENSG00000213780	chromatin interactions
ENSG00000266183	chromatin interactions
ENSG00000204576	chromatin interactions
ENSG00000204590	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs25527	chr6:30690938-30690939	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531136222	chr6:30690943-30690944	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs558970344	chr6:30690968-30690969	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs575567923	chr6:30691067-30691068	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs544568671	chr6:30691139-30691140	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs139202417	chr6:30691166-30691167	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs143228836	chr6:30691187-30691188	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs147158826	chr6:30691217-30691218	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs370980027	chr6:30691298-30691299	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs140428951	chr6:30691403-30691404	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs554646933	chr6:30691418-30691419	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs141142574	chr6:30691451-30691452	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs25497	chr6:30691490-30691491	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs11546736	chr6:30691505-30691506	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs560390544	chr6:30691652-30691653	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs11546741	chr6:30691700-30691701	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs373645118	chr6:30691742-30691743	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
18	rs532302557	chr6:30691775-30691776	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
19	rs377512947	chr6:30691817-30691818	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
20	rs145104309	chr6:30691925-30691926	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
21	rs143521446	chr6:30691985-30691986	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs139901632	chr6:30692039-30692040	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs570585647	chr6:30692066-30692067	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs143403410	chr6:30692093-30692094	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs200599590	chr6:30692096-30692097	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs146810731	chr6:30692126-30692127	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs546364891	chr6:30692195-30692196	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs9468815	chr6:30692230-30692231	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs9468816	chr6:30692231-30692232	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs373701439	chr6:30692252-30692253	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs59425590	chr6:30692282-30692283	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs60680255	chr6:30692291-30692292	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs61451095	chr6:30692292-30692293	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs150645240	chr6:30692293-30692294	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs199752912	chr6:30692296-30692297	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs193275555	chr6:30692300-30692301	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs566733160	chr6:30692301-30692302	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs538816392	chr6:30692322-30692323	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs558808889	chr6:30692330-30692331	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs537939028	chr6:30692333-30692334	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs574063221	chr6:30692339-30692340	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs575294741	chr6:30692362-30692363	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs188973291	chr6:30692416-30692417	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region miRNA target site	14 gene(s)	Overlapped CNVs	n/a
44	rs534087781	chr6:30692445-30692446	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs568090639	chr6:30692524-30692525	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs1061397	chr6:30692539-30692540	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs557225575	chr6:30692546-30692547	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs192051958	chr6:30692566-30692567	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs1061424	chr6:30692583-30692584	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs551275802	chr6:30692593-30692594	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 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	18451855	CNVD

Chromatin state (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30688200-30692400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr6:30688400-30691800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:30688800-30693200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:30689000-30691000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
5	chr6:30689000-30691800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
6	chr6:30689400-30691000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:30689400-30691000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:30689400-30691000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
9	chr6:30689400-30691000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
10	chr6:30689400-30691000	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
11	chr6:30689400-30691000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
12	chr6:30689400-30691000	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:30689400-30691000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
14	chr6:30689400-30691200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
15	chr6:30689400-30691200	Transcr. at gene 5' and 3'	A549	lung
16	chr6:30689400-30691200	Transcr. at gene 5' and 3'	K562	blood
17	chr6:30689400-30691600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:30689400-30692000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:30689400-30692000	Transcr. at gene 5' and 3'	HMEC	breast
20	chr6:30689400-30692400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
21	chr6:30689400-30692400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:30689400-30692400	Transcr. at gene 5' and 3'	NHLF	lung
23	chr6:30689400-30693000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:30689400-30693000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:30689400-30694000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:30689400-30694000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:30689600-30691000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
28	chr6:30689600-30691000	Transcr. at gene 5' and 3'	Osteobl	bone
29	chr6:30689600-30691600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:30689600-30692200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
31	chr6:30689800-30691000	Transcr. at gene 5' and 3'	HepG2	liver
32	chr6:30689800-30691200	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:30689800-30691600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
34	chr6:30690000-30691000	Weak transcription	Aorta	Aorta
35	chr6:30690000-30691400	Weak transcription	Ovary	ovary
36	chr6:30690000-30693000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:30690000-30694000	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
38	chr6:30690000-30709600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr6:30690200-30691000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
40	chr6:30690200-30691000	Transcr. at gene 5' and 3'	Fetal Heart	heart
41	chr6:30690200-30691200	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
42	chr6:30690200-30692000	Transcr. at gene 5' and 3'	Hela-S3	cervix
43	chr6:30690200-30693000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:30690200-30693400	Transcr. at gene 5' and 3'	NH-A	brain
45	chr6:30690200-30694000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
46	chr6:30690200-30699200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr6:30690400-30691000	Genic enhancers	Primary B cells from peripheral blood	blood
48	chr6:30690400-30691000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:30690400-30691000	Genic enhancers	Brain Substantia Nigra	brain
50	chr6:30690400-30691000	Transcr. at gene 5' and 3'	Fetal Kidney	kidney

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