Variant report

Variant	esv1809461
Chromosome Location	chr6:34204682-34206034
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	chr6:34204650-34204885	K562	blood:	n/a	n/a
2	ARID3A	chr6:34204672-34204939	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:34205717-34205869	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:34205911-34205970	K562	blood:	n/a	n/a
5	ATF2	chr6:34205599-34206775	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr6:34203212-34204748	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr6:34205677-34206139	GM12878	blood:	n/a	n/a
8	ATF2	chr6:34203931-34205103	GM12878	blood:	n/a	n/a
9	ATF3	chr6:34204228-34204739	K562	blood:	n/a	chr6:34204588-34204597
10	ATF3	chr6:34205808-34206112	K562	blood:	n/a	chr6:34205884-34205893
11	ATF3	chr6:34205751-34206327	K562	blood:	n/a	chr6:34205884-34205893
12	BACH1	chr6:34206024-34206439	K562	blood:	n/a	n/a
13	BACH1	chr6:34203470-34204683	K562	blood:	n/a	chr6:34203549-34203563
14	BACH1	chr6:34202422-34204707	H1-hESC	embryonic stem cell:	n/a	chr6:34203549-34203563
15	BACH1	chr6:34205776-34206195	H1-hESC	embryonic stem cell:	n/a	n/a
16	BCL11A	chr6:34204764-34205132	GM12878	blood:	n/a	chr6:34204938-34204947 chr6:34204935-34204944 chr6:34204934-34204947
17	BCL11A	chr6:34204791-34205038	GM12878	blood:	n/a	chr6:34204938-34204947 chr6:34204935-34204944 chr6:34204934-34204947
18	BCL11A	chr6:34205837-34206048	GM12878	blood:	n/a	chr6:34205884-34205897 chr6:34205942-34205951
19	BCL11A	chr6:34204551-34204762	GM12878	blood:	n/a	n/a
20	BCL3	chr6:34204235-34205090	GM12878	blood:	n/a	chr6:34204938-34204947 chr6:34204935-34204944 chr6:34204934-34204947
21	BCL3	chr6:34205436-34206203	K562	blood:	n/a	chr6:34205442-34205455 chr6:34205744-34205753 chr6:34205443-34205456 chr6:34205884-34205897 chr6:34205942-34205951 chr6:34205513-34205526
22	BCLAF1	chr6:34203209-34205104	K562	blood:	n/a	chr6:34204938-34204947 chr6:34203272-34203281 chr6:34203414-34203427 chr6:34203434-34203443 chr6:34204935-34204944 chr6:34204934-34204947
23	BCLAF1	chr6:34205732-34206211	GM12878	blood:	n/a	chr6:34205744-34205753 chr6:34205884-34205897 chr6:34205942-34205951
24	BCLAF1	chr6:34203716-34204767	GM12878	blood:	n/a	n/a
25	BCLAF1	chr6:34205531-34207192	K562	blood:	n/a	chr6:34205744-34205753 chr6:34205884-34205897 chr6:34205942-34205951
26	BCLAF1	chr6:34205667-34206236	K562	blood:	n/a	chr6:34205744-34205753 chr6:34205884-34205897 chr6:34205942-34205951
27	BCLAF1	chr6:34203336-34205094	GM12878	blood:	n/a	chr6:34204938-34204947 chr6:34203414-34203427 chr6:34203434-34203443 chr6:34204935-34204944 chr6:34204934-34204947
28	BHLHE40	chr6:34203088-34205165	GM12878	blood:	n/a	chr6:34204607-34204623 chr6:34204910-34204926
29	BHLHE40	chr6:34205408-34205496	GM12878	blood:	n/a	chr6:34205454-34205470 chr6:34205440-34205456
30	BHLHE40	chr6:34205713-34206325	GM12878	blood:	n/a	chr6:34205886-34205902
31	BHLHE40	chr6:34203081-34204903	K562	blood:	n/a	chr6:34204607-34204623
32	BHLHE40	chr6:34205772-34206152	K562	blood:	n/a	chr6:34205886-34205902
33	BHLHE40	chr6:34204417-34204945	HepG2	liver:	n/a	chr6:34204607-34204623 chr6:34204910-34204926
34	BRCA1	chr6:34205937-34206212	HepG2	liver:	n/a	n/a
35	BRCA1	chr6:34204348-34204764	Hela-S3	cervix:	n/a	n/a
36	CBX3	chr6:34205587-34206440	K562	blood:	n/a	n/a
37	CBX3	chr6:34202931-34204843	K562	blood:	n/a	n/a
38	CBX3	chr6:34205797-34206131	K562	blood:	n/a	n/a
39	CCNT2	chr6:34202690-34206370	K562	blood:	n/a	chr6:34202983-34202992 chr6:34204588-34204597 chr6:34203018-34203027 chr6:34203362-34203371 chr6:34205365-34205374 chr6:34205687-34205696 chr6:34203060-34203069 chr6:34204858-34204867 chr6:34205495-34205504 chr6:34203273-34203282
40	CEBPD	chr6:34203055-34205004	K562	blood:	n/a	n/a
41	CEBPD	chr6:34205576-34206118	HepG2	liver:	n/a	n/a
42	CEBPD	chr6:34205292-34205554	HepG2	liver:	n/a	n/a
43	CEBPD	chr6:34205712-34206317	K562	blood:	n/a	n/a
44	CEBPD	chr6:34203221-34204925	K562	blood:	n/a	n/a
45	CEBPD	chr6:34204187-34204879	HepG2	liver:	n/a	n/a
46	CHD1	chr6:34203488-34205101	GM12878	blood:	n/a	n/a
47	CHD1	chr6:34203247-34207472	IMR90	lung:	n/a	chr6:34205496-34205506 chr6:34205433-34205443 chr6:34203477-34203487 chr6:34205352-34205359
48	CHD1	chr6:34203402-34205116	H1-hESC	embryonic stem cell:	n/a	chr6:34203477-34203487
49	CHD1	chr6:34205413-34206425	GM12878	blood:	n/a	chr6:34205496-34205506 chr6:34205433-34205443
50	CHD1	chr6:34205405-34207466	H1-hESC	embryonic stem cell:	n/a	chr6:34205496-34205506 chr6:34205433-34205443

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:34204646-34204696	GM12878	blood:	n/a
2	chr6:34204646-34204696	GM12878	blood:	n/a
3	chr6:34205811-34205861	SK-N-SH	brain:	n/a
4	chr6:34205665-34205715	IMR90	lung:	fetal
5	chr6:34205811-34205861	NHDF-neo	bronchial:	n/a
6	chr6:34204698-34204748	HMEC	breast:	n/a
7	chr6:34205665-34205715	PFSK-1	brain:	n/a
8	chr6:34205665-34205715	NHBE	bronchial:	n/a
9	chr6:34204911-34204961	HEK293	kidney:	embryo
10	chr6:34205811-34205861	AG10803	skin:	n/a
11	chr6:34204911-34204961	PFSK-1	brain:	n/a
12	chr6:34204646-34204696	HCT-116	colon:	n/a
13	chr6:34205811-34205861	GM12891	blood:	n/a
14	chr6:34204698-34204748	HRPEpiC	eye:	n/a
15	chr6:34205811-34205861	HAEpiC	amniotic membrane:	n/a
16	chr6:34205665-34205715	Jurkat	blood:	n/a
17	chr6:34204911-34204961	Jurkat	blood:	n/a
18	chr6:34204646-34204696	AG04449	skin:	fetal
19	chr6:34205811-34205861	HEEpiC	esophagus:	n/a
20	chr6:34205665-34205715	K562	blood:	n/a
21	chr6:34204698-34204748	SKMC	muscle:	n/a
22	chr6:34204646-34204696	RPTEC	kidney:	n/a
23	chr6:34205811-34205861	HIPEpiC	eye:	n/a
24	chr6:34205811-34205861	NT2-D1	testis:	n/a
25	chr6:34204911-34204961	HCPEpiC	choroid plexus:	n/a
26	chr6:34204911-34204961	IMR90	lung:	fetal
27	chr6:34205665-34205715	Hela-S3	cervix:	n/a
28	chr6:34204698-34204748	MCF10A-Er-Src	breast:	n/a
29	chr6:34204646-34204696	PANC-1	pancreas:	n/a
30	chr6:34204646-34204696	NHBE	bronchial:	n/a
31	chr6:34204646-34204696	GM12891	blood:	n/a
32	chr6:34205665-34205715	HAEpiC	amniotic membrane:	n/a
33	chr6:34204698-34204748	ProgFib	skin:	n/a
34	chr6:34204698-34204748	AG09319	gingival:	n/a
35	chr6:34204911-34204961	NHDF-neo	bronchial:	n/a
36	chr6:34204911-34204961	AG09319	gingival:	n/a
37	chr6:34205665-34205715	AG10803	skin:	n/a
38	chr6:34204911-34204961	HRE	kidney:	n/a
39	chr6:34205665-34205715	NT2-D1	testis:	n/a
40	chr6:34204698-34204748	HEK293	kidney:	embryo
41	chr6:34204646-34204696	AoSMC	blood vessel:	n/a
42	chr6:34204698-34204748	HNPCEpiC	eye:	n/a
43	chr6:34204698-34204748	NT2-D1	testis:	n/a
44	chr6:34204646-34204696	IMR90	lung:	fetal
45	chr6:34205811-34205861	HepG2	liver:	n/a
46	chr6:34204698-34204748	HCT-116	colon:	n/a
47	chr6:34204911-34204961	AoSMC	blood vessel:	n/a
48	chr6:34205811-34205861	AG04450	lung:	fetal
49	chr6:34204698-34204748	BJ	skin:	n/a
50	chr6:34204646-34204696	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:34203686..34207490-chr6:34388234..34395019,9	K562	blood:
2	chr6:34204437..34204948-chr9:100745047..100745884,2	HCT-116	colon:
3	chr6:32937897..32939542-chr6:34204390..34205971,2	K562	blood:
4	chr22:42371294..42372795-chr6:34203726..34205755,2	K562	blood:
5	chr6:34202422..34206409-chr6:34359682..34362061,4	MCF-7	breast:
6	chr6:34204158..34206160-chr6:34249084..34250799,2	K562	blood:
7	chr6:34205221..34206122-chr8:145013261..145014125,2	Hela-S3	cervix:
8	chr6:34203866..34208750-chr6:34388488..34394053,10	MCF-7	breast:
9	chr6:34203144..34206658-chr6:34358641..34361602,5	MCF-7	breast:
10	chr6:34205000..34207351-chr6:34521778..34524214,3	MCF-7	breast:
11	chr3:156392161..156392699-chr6:34204120..34204941,2	Hela-S3	cervix:
12	chr6:34023198..34025594-chr6:34206013..34207538,2	K562	blood:
13	chr6:34163746..34164612-chr6:34205526..34206234,2	MCF-7	breast:
14	chr6:26030302..26034233-chr6:34203696..34206879,3	K562	blood:
15	chr15:78730134..78730654-chr6:34204413..34205121,2	Hela-S3	cervix:
16	chr6:34202852..34208935-chr6:34358420..34361531,11	K562	blood:
17	chr6:27114807..27116319-chr6:34202953..34205471,2	K562	blood:
18	chr6:34202426..34206348-chr6:34246132..34251181,8	K562	blood:
19	chr1:249120210..249121150-chr6:34204127..34204729,2	Hela-S3	cervix:
20	chr6:32935087..32937260-chr6:34203527..34205699,2	K562	blood:
21	chr11:62609122..62609720-chr6:34204185..34204725,2	Hela-S3	cervix:
22	chr1:145611150..145611650-chr6:34204399..34204900,2	Hela-S3	cervix:
23	chr6:33587172..33590152-chr6:34203876..34205466,2	K562	blood:
24	chr6:34202383..34217863-chr6:34357259..34364960,37	K562	blood:
25	chr15:79164841..79165710-chr6:34204367..34204927,2	HCT-116	colon:
26	chr6:34156179..34158888-chr6:34205822..34208269,2	K562	blood:
27	chr6:34204520..34207436-chr6:34522666..34524361,2	K562	blood:
28	chr3:156877676..156878528-chr6:34205365..34206028,2	Hela-S3	cervix:
29	chr2:174828611..174829584-chr6:34204558..34205105,2	NB4	blood:
30	chr11:33061352..33062092-chr6:34204110..34205009,2	Hela-S3	cervix:
31	chr6:34204127..34204964-chr9:131790137..131790828,2	Hela-S3	cervix:
32	chr6:34204142..34204871-chr8:145734847..145735360,2	HCT-116	colon:
33	chr6:34202035..34205684-chr6:35227191..35229008,3	K562	blood:
34	chr6:33383299..33386120-chr6:34202398..34204899,2	K562	blood:
35	chr6:34203584..34206226-chr6:34392090..34394590,2	K562	blood:
36	chr6:33755468..33757115-chr6:34205033..34207556,2	MCF-7	breast:
37	chr6:34202622..34206817-chr6:34391790..34393979,3	MCF-7	breast:

Variant related genes	Relation type
HMGA1	TF binding region
HMGA1	CpG island
ENSG00000133316	chromatin interactions
ENSG00000121848	chromatin interactions
ENSG00000148341	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000167700	chromatin interactions
ENSG00000223837	chromatin interactions
ENSG00000270800	chromatin interactions
ENSG00000163659	chromatin interactions
ENSG00000163660	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000185787	chromatin interactions
ENSG00000136381	chromatin interactions
ENSG00000172845	chromatin interactions
ENSG00000204257	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000264500	chromatin interactions
ENSG00000137259	chromatin interactions
ENSG00000175137	chromatin interactions
ENSG00000161904	chromatin interactions
ENSG00000272325	chromatin interactions
ENSG00000065029	chromatin interactions
ENSG00000100167	chromatin interactions
ENSG00000176148	chromatin interactions
ENSG00000124614	chromatin interactions
ENSG00000124664	chromatin interactions
ENSG00000096433	chromatin interactions
ENSG00000271231	chromatin interactions
ENSG00000225339	chromatin interactions
ENSG00000136938	chromatin interactions
ENSG00000178209	chromatin interactions
ENSG00000124493	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000243926	chromatin interactions
ENSG00000112514	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9380423	chr6:34204682-34204683	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564404149	chr6:34204765-34204766	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
3	rs547240969	chr6:34204769-34204770	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
4	rs532441234	chr6:34204843-34204844	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
5	rs532749103	chr6:34204854-34204855	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
6	rs559754611	chr6:34204885-34204886	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
7	rs530233001	chr6:34204890-34204891	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
8	rs113872254	chr6:34204963-34204964	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
9	rs142069698	chr6:34204964-34204965	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
10	rs59269255	chr6:34204970-34204971	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
11	rs11541858	chr6:34205045-34205046	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
12	rs548660526	chr6:34205338-34205339	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
13	rs570266028	chr6:34205384-34205385	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
14	rs190509307	chr6:34205447-34205448	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
15	rs370788671	chr6:34205465-34205466	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
16	rs58141537	chr6:34205484-34205485	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs116882763	chr6:34205532-34205533	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
18	rs571105981	chr6:34205544-34205545	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
19	rs534347924	chr6:34205603-34205604	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
20	rs552573114	chr6:34205607-34205608	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
21	rs182218233	chr6:34205610-34205611	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
22	rs535187425	chr6:34205639-34205640	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
23	rs556593641	chr6:34205641-34205642	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
24	rs368294043	chr6:34205648-34205649	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
25	rs575397136	chr6:34205668-34205669	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
26	rs539612749	chr6:34205689-34205690	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs557803225	chr6:34205712-34205713	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs79127179	chr6:34205713-34205714	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs540498911	chr6:34205761-34205762	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs559792288	chr6:34205795-34205796	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs118012224	chr6:34205822-34205823	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs186006155	chr6:34205823-34205824	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs563791992	chr6:34205871-34205872	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs530831338	chr6:34205878-34205879	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs552713817	chr6:34205891-34205892	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs564496593	chr6:34205913-34205914	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs566371065	chr6:34205954-34205955	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs114529313	chr6:34205962-34205963	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs546851558	chr6:34205977-34205978	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Medulloblastoma	22249617	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34202400-34207000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:34202400-34207400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:34202400-34207400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:34202600-34206000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr6:34202600-34206000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr6:34202600-34206200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:34202600-34206200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:34202600-34206800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:34202800-34206000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:34202800-34206000	Active TSS	Thymus	Thymus
11	chr6:34202800-34206200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr6:34202800-34206400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr6:34202800-34206800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:34202800-34206800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:34202800-34206800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:34203000-34205400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:34203200-34205400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:34203200-34206200	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr6:34203200-34206400	Active TSS	Small Intestine	intestine
20	chr6:34203400-34204800	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr6:34203400-34205600	Active TSS	Brain Germinal Matrix	brain
22	chr6:34203400-34206200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:34203400-34206400	Active TSS	Fetal Kidney	kidney
24	chr6:34203400-34206600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr6:34203400-34206800	Active TSS	Esophagus	oesophagus
26	chr6:34203600-34206200	Active TSS	Brain Anterior Caudate	brain
27	chr6:34203600-34206600	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr6:34203600-34207600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:34203800-34206200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:34203800-34206200	Active TSS	Brain Cingulate Gyrus	brain
31	chr6:34203800-34206200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr6:34203800-34206600	Active TSS	Psoas Muscle	Psoas
33	chr6:34204000-34205600	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr6:34204000-34206200	Active TSS	Brain Hippocampus Middle	brain
35	chr6:34204200-34205600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:34204200-34205600	Active TSS	Placenta Amnion	Placenta Amnion
37	chr6:34204200-34206000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:34204200-34206000	Active TSS	Brain Substantia Nigra	brain
39	chr6:34204200-34206000	Active TSS	Gastric	stomach
40	chr6:34204200-34206200	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr6:34204200-34206200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:34204200-34206200	Active TSS	Primary T cells from cord blood	blood
43	chr6:34204200-34206200	Active TSS	Duodenum Mucosa	Duodenum
44	chr6:34204200-34206200	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr6:34204200-34206200	Active TSS	HSMM	muscle
46	chr6:34204200-34206200	Active TSS	Osteobl	bone
47	chr6:34204200-34206400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr6:34204200-34207200	Active TSS	A549	lung
49	chr6:34204400-34204800	Enhancers	Fetal Brain Male	brain
50	chr6:34204400-34204800	Bivalent/Poised TSS	Fetal Brain Female	brain

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