Variant report

Variant	esv3507609
Chromosome Location	chr6:35463474-35466122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:612)
CpG islands
(count:489)
Chromatin interactive
region (count:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr6:35465448-35466198	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr6:35465018-35466097	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr6:35463936-35464216	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr6:35465385-35465467	K562	blood:	n/a	n/a
5	BACH1	chr6:35463553-35463623	K562	blood:	n/a	n/a
6	BHLHE40	chr6:35465035-35465358	GM12878	blood:	n/a	chr6:35465324-35465340
7	BHLHE40	chr6:35464925-35466949	K562	blood:	n/a	chr6:35465324-35465340 chr6:35466465-35466481
8	BHLHE40	chr6:35463875-35464243	K562	blood:	n/a	n/a
9	CBX3	chr6:35465319-35466849	K562	blood:	n/a	n/a
10	CBX3	chr6:35463719-35464260	K562	blood:	n/a	n/a
11	CBX3	chr6:35465435-35465782	K562	blood:	n/a	n/a
12	CCNT2	chr6:35464027-35466338	K562	blood:	n/a	chr6:35464480-35464489 chr6:35464739-35464748 chr6:35464464-35464473 chr6:35464364-35464373
13	CEBPD	chr6:35465562-35465982	HepG2	liver:	n/a	n/a
14	CEBPD	chr6:35464085-35464869	HepG2	liver:	n/a	n/a
15	CEBPD	chr6:35464886-35465232	HepG2	liver:	n/a	n/a
16	CHD1	chr6:35465591-35466082	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr6:35464674-35464717	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr6:35465678-35465729	K562	blood:	n/a	n/a
19	CHD2	chr6:35464140-35464171	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr6:35464391-35466037	Hela-S3	cervix:	n/a	chr6:35465063-35465073 chr6:35465017-35465027 chr6:35465585-35465595 chr6:35465520-35465530
21	CHD2	chr6:35465634-35465895	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr6:35463565-35466162	HepG2	liver:	n/a	n/a
23	CREB1	chr6:35464980-35465367	A549	lung:	n/a	n/a
24	CTBP2	chr6:35465183-35466438	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr6:35465520-35465670	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr6:35465540-35465690	HAc	cerebellar:	n/a	n/a
27	CTCF	chr6:35464580-35464730	GM12872	blood:	n/a	n/a
28	CTCF	chr6:35465600-35465750	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr6:35464540-35464690	HEK293	kidney:	n/a	n/a
30	CTCF	chr6:35465240-35465390	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr6:35464533-35464855	K562	blood:	n/a	n/a
32	CTCF	chr6:35465220-35465370	GM12874	blood:	n/a	n/a
33	CTCF	chr6:35465613-35465656	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr6:35466080-35466230	HepG2	liver:	n/a	n/a
35	CTCF	chr6:35465500-35465650	AG09309	skin:	n/a	n/a
36	CTCF	chr6:35464532-35464890	K562	blood:	n/a	n/a
37	CTCF	chr6:35464480-35464630	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr6:35465575-35465653	Fibrobl	skin:	n/a	n/a
39	CTCF	chr6:35465553-35465691	MCF-7	breast:	n/a	n/a
40	CTCF	chr6:35464540-35464690	BJ	skin:	n/a	n/a
41	CTCF	chr6:35464520-35464670	HAc	cerebellar:	n/a	n/a
42	CTCF	chr6:35465500-35465650	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr6:35465585-35465653	Pancreas_OC	pancreas:	n/a	n/a
44	CTCF	chr6:35464642-35464731	GM10248	blood:	n/a	n/a
45	CTCF	chr6:35464580-35464730	AG04449	skin:	n/a	n/a
46	CTCF	chr6:35464540-35464690	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr6:35464560-35464710	GM12875	blood:	n/a	n/a
48	CTCF	chr6:35466060-35466210	AG04449	skin:	n/a	n/a
49	CTCF	chr6:35465260-35465410	NHEK	skin:	n/a	n/a
50	CTCF	chr6:35464580-35464730	HMEC	breast:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:35464304-35464354	ECC-1	luminal epithelium:	n/a
2	chr6:35464304-35464354	ECC-1	luminal epithelium:	n/a
3	chr6:35466014-35466064	HAEpiC	amniotic membrane:	n/a
4	chr6:35464571-35464621	GM12892	blood:	n/a
5	chr6:35464939-35464989	HCF	heart:	n/a
6	chr6:35465342-35465392	SKMC	muscle:	n/a
7	chr6:35464939-35464989	HRCEpiC	kidney:	n/a
8	chr6:35464536-35464586	GM06990	blood:	n/a
9	chr6:35465342-35465392	NHBE	bronchial:	n/a
10	chr6:35463625-35463675	RPTEC	kidney:	n/a
11	chr6:35465342-35465392	HEK293	kidney:	embryo
12	chr6:35464304-35464354	SK-N-SH_RA	brain:	n/a
13	chr6:35464536-35464586	RPTEC	kidney:	n/a
14	chr6:35465342-35465392	NH-A	brain:	n/a
15	chr6:35464939-35464989	SK-N-SH	brain:	n/a
16	chr6:35465845-35465895	A549	lung:	n/a
17	chr6:35464571-35464621	AG09309	skin:	n/a
18	chr6:35464571-35464621	HCPEpiC	choroid plexus:	n/a
19	chr6:35465845-35465895	HIPEpiC	eye:	n/a
20	chr6:35463625-35463675	HMEC	breast:	n/a
21	chr6:35464536-35464586	ECC-1	luminal epithelium:	n/a
22	chr6:35465342-35465392	H1-hESC	embryonic stem cell:	embryo
23	chr6:35464536-35464586	PrEC	prostate:	n/a
24	chr6:35463625-35463675	GM12878	blood:	n/a
25	chr6:35466014-35466064	SK-N-SH	brain:	n/a
26	chr6:35464939-35464989	PFSK-1	brain:	n/a
27	chr6:35464304-35464354	HL-60	blood:	n/a
28	chr6:35464304-35464354	HEK293	kidney:	embryo
29	chr6:35465845-35465895	ProgFib	skin:	n/a
30	chr6:35464304-35464354	AoSMC	blood vessel:	n/a
31	chr6:35466014-35466064	HNPCEpiC	eye:	n/a
32	chr6:35464536-35464586	GM12892	blood:	n/a
33	chr6:35463625-35463675	ProgFib	skin:	n/a
34	chr6:35466014-35466064	K562	blood:	n/a
35	chr6:35466014-35466064	HCPEpiC	choroid plexus:	n/a
36	chr6:35465342-35465392	Hepatocyte	liver:	n/a
37	chr6:35464536-35464586	SK-N-SH_RA	brain:	n/a
38	chr6:35465845-35465895	GM12892	blood:	n/a
39	chr6:35466014-35466064	HEK293	kidney:	embryo
40	chr6:35465342-35465392	AG04449	skin:	fetal
41	chr6:35464939-35464989	HPAEpiC	pulmonary alveolar:	n/a
42	chr6:35464536-35464586	HPAEpiC	pulmonary alveolar:	n/a
43	chr6:35463625-35463675	NT2-D1	testis:	n/a
44	chr6:35466014-35466064	HCF	heart:	n/a
45	chr6:35464304-35464354	LNCaP	prostate:	n/a
46	chr6:35464939-35464989	NH-A	brain:	n/a
47	chr6:35465845-35465895	PFSK-1	brain:	n/a
48	chr6:35463625-35463675	HepG2	liver:	n/a
49	chr6:35464939-35464989	Jurkat	blood:	n/a
50	chr6:35464536-35464586	HL-60	blood:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35464935..35465692-chr7:44835784..44836776,2	Hela-S3	cervix:
2	chr6:35225785..35227535-chr6:35464894..35467017,2	K562	blood:
3	chr1:153699734..153700587-chr6:35465219..35465916,2	Hela-S3	cervix:
4	chr6:35265003..35267090-chr6:35463346..35464932,2	K562	blood:
5	chr21:46237169..46238057-chr6:35464670..35465479,2	Hela-S3	cervix:
6	chr6:35464241..35466956-chr6:35695881..35700309,4	MCF-7	breast:
7	chr6:35465758..35466302-chr9:35603362..35604311,2	Hela-S3	cervix:
8	chr17:36905700..36906366-chr6:35464667..35465593,2	Hela-S3	cervix:
9	chr6:35310114..35311915-chr6:35462651..35465491,3	MCF-7	breast:
10	chr11:33757381..33758237-chr6:35465059..35466295,3	Hela-S3	cervix:
11	chr6:35310116..35312027-chr6:35462385..35465150,2	MCF-7	breast:
12	chr6:35270724..35273111-chr6:35465041..35467348,2	K562	blood:
13	chr6:35264944..35267460-chr6:35465302..35468823,3	MCF-7	breast:
14	chr6:35263661..35265616-chr6:35463054..35466039,2	MCF-7	breast:
15	chr6:35419956..35422517-chr6:35464991..35466898,2	MCF-7	breast:
16	chr20:47894747..47895275-chr6:35464852..35465455,2	Hela-S3	cervix:
17	chr20:15349649..15350459-chr6:35465170..35465747,2	MCF-7	breast:
18	chr6:35418643..35423313-chr6:35462563..35468017,10	K562	blood:
19	chr6:35310112..35312932-chr6:35464368..35466518,2	K562	blood:
20	chr6:35310058..35310620-chr6:35464293..35465068,2	K562	blood:
21	chr6:35465886..35468037-chr6:35705048..35706925,2	K562	blood:
22	chr6:35227208..35228940-chr6:35464081..35465836,2	K562	blood:
23	chr6:35463571..35465690-chr6:35654249..35656915,2	K562	blood:
24	chr6:35465054..35467000-chr6:36192851..36194879,2	MCF-7	breast:
25	chr6:35435808..35436604-chr6:35464010..35464598,3	Hela-S3	cervix:
26	chr6:35465082..35466862-chr6:35699908..35701462,2	MCF-7	breast:
27	chr6:35465446..35468035-chr6:35607430..35610345,2	K562	blood:
28	chr6:35463384..35465009-chr6:35703029..35705389,2	K562	blood:
29	chr6:35464312..35466499-chr6:35694204..35696742,2	MCF-7	breast:
30	chr6:35465083..35467815-chr6:35613967..35615894,2	MCF-7	breast:
31	chr6:35465223..35467694-chr6:35696445..35698937,2	K562	blood:
32	chr5:43514826..43515720-chr6:35464905..35465668,2	Hela-S3	cervix:
33	chr6:35376688..35379327-chr6:35465068..35467470,3	K562	blood:
34	chr6:35462682..35465009-chr6:35702407..35705389,2	K562	blood:
35	chr6:35464601..35467910-chr6:35655207..35659461,3	K562	blood:
36	chr2:176033099..176033744-chr6:35465562..35466338,2	Hela-S3	cervix:
37	chr19:11198114..11200950-chr6:35464173..35466447,2	K562	blood:
38	chr6:35423795..35426623-chr6:35465037..35468781,3	K562	blood:
39	chr1:210547375..210547960-chr6:35465386..35466203,2	Hela-S3	cervix:
40	chr17:7387197..7388120-chr6:35464620..35465289,2	Hela-S3	cervix:
41	chr6:35289938..35291662-chr6:35465459..35467668,2	K562	blood:
42	chr6:35462442..35464169-chr6:35698121..35700196,2	MCF-7	breast:
43	chr6:35260813..35263112-chr6:35464822..35466518,2	K562	blood:
44	chr5:130531404..130532060-chr6:35465194..35466059,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
TEAD3	TF binding region
TEAD3	CpG island
ENSG00000096060	chromatin interactions
ENSG00000112039	chromatin interactions
ENSG00000056661	chromatin interactions
ENSG00000248240	chromatin interactions
ENSG00000143624	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000130164	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000232909	chromatin interactions
ENSG00000085063	chromatin interactions
ENSG00000198755	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000112033	chromatin interactions
ENSG00000172244	chromatin interactions
ENSG00000115966	chromatin interactions
ENSG00000023892	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000065029	chromatin interactions
ENSG00000196262	chromatin interactions
ENSG00000157343	chromatin interactions
ENSG00000184900	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554534846	chr6:35463513-35463514	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs72894791	chr6:35463517-35463518	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs182054321	chr6:35463535-35463536	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs149916718	chr6:35463558-35463559	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs543081057	chr6:35463565-35463566	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs543943222	chr6:35463581-35463582	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs564922963	chr6:35463610-35463611	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs577004148	chr6:35463683-35463684	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs111444760	chr6:35463786-35463787	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs540903749	chr6:35463790-35463791	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs559193356	chr6:35463814-35463815	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs369294075	chr6:35463848-35463849	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs187061185	chr6:35463979-35463980	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs373470644	chr6:35463986-35463987	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs529953771	chr6:35464012-35464013	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs532085505	chr6:35464030-35464031	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs547740279	chr6:35464110-35464111	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs562945561	chr6:35464152-35464153	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs530516154	chr6:35464159-35464160	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs552289037	chr6:35464239-35464240	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs571728232	chr6:35464260-35464261	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs111292016	chr6:35464343-35464344	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs192850479	chr6:35464473-35464474	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs548028547	chr6:35464476-35464477	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs566338430	chr6:35464504-35464505	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs536948687	chr6:35464514-35464515	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs34743606	chr6:35464568-35464569	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs71002565	chr6:35464598-35464599	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs374158554	chr6:35464599-35464600	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs554999757	chr6:35464603-35464604	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs555053502	chr6:35464611-35464612	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs185265331	chr6:35464871-35464872	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs112559313	chr6:35464972-35464973	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
34	rs537135476	chr6:35465017-35465018	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs9470041	chr6:35465023-35465024	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs144922138	chr6:35465039-35465040	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs540791143	chr6:35465052-35465053	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs188779831	chr6:35465115-35465116	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
39	rs574345053	chr6:35465135-35465136	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
40	rs192869384	chr6:35465233-35465234	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs563127112	chr6:35465291-35465292	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs202127806	chr6:35465293-35465294	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs530560913	chr6:35465298-35465299	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs564174661	chr6:35465342-35465343	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs528205602	chr6:35465376-35465377	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs529373409	chr6:35465458-35465459	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs370641312	chr6:35465468-35465469	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs547964257	chr6:35465504-35465505	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs45493300	chr6:35465580-35465581	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs185839943	chr6:35465593-35465594	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	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
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
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
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
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35456200-35464400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr6:35457200-35463600	Enhancers	Pancreas	Pancrea
3	chr6:35458400-35463800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:35458400-35463800	Weak transcription	Brain Angular Gyrus	brain
5	chr6:35458600-35463800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:35458800-35463600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:35458800-35463600	Weak transcription	Brain Anterior Caudate	brain
8	chr6:35458800-35463800	Weak transcription	Brain Hippocampus Middle	brain
9	chr6:35460000-35463600	Weak transcription	A549	lung
10	chr6:35460400-35463600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr6:35460600-35463800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
12	chr6:35461000-35465000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr6:35461000-35465000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr6:35461200-35463800	Bivalent Enhancer	Fetal Thymus	thymus
15	chr6:35461600-35463600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr6:35461600-35464000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr6:35462000-35463600	Flanking Active TSS	Placenta	Placenta
18	chr6:35462000-35463600	Flanking Active TSS	HepG2	liver
19	chr6:35462000-35464000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:35462000-35464000	Flanking Active TSS	HSMM	muscle
21	chr6:35462200-35463600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:35462200-35463800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:35462400-35464400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:35462600-35463600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:35462600-35463600	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr6:35462600-35464000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:35462800-35463600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
28	chr6:35462800-35463800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:35462800-35463800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:35462800-35464000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr6:35463000-35463600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr6:35463000-35463600	Flanking Active TSS	Fetal Lung	lung
33	chr6:35463000-35463600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
34	chr6:35463000-35463600	Enhancers	Psoas Muscle	Psoas
35	chr6:35463000-35463600	Weak transcription	Spleen	Spleen
36	chr6:35463000-35463600	Flanking Active TSS	NHLF	lung
37	chr6:35463000-35463800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:35463000-35463800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr6:35463000-35463800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr6:35463000-35463800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:35463000-35463800	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr6:35463000-35463800	Flanking Active TSS	Fetal Heart	heart
43	chr6:35463000-35463800	Flanking Active TSS	Stomach Mucosa	stomach
44	chr6:35463000-35463800	Flanking Active TSS	NH-A	brain
45	chr6:35463000-35463800	Flanking Active TSS	NHDF-Ad	bronchial
46	chr6:35463000-35463800	Flanking Active TSS	NHEK	skin
47	chr6:35463000-35464000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:35463000-35464000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
49	chr6:35463000-35464000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:35463000-35464000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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