Variant report

Variant	esv2750621
Chromosome Location	chr6:35227168-35228219
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	chr6:35226717-35228327	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:35227129-35227629	K562	blood:	n/a	n/a
3	ATF1	chr6:35226687-35227563	K562	blood:	n/a	n/a
4	ATF2	chr6:35226695-35227677	H1-hESC	embryonic stem cell:	n/a	chr6:35227231-35227242
5	ATF2	chr6:35226992-35227815	GM12878	blood:	n/a	chr6:35227231-35227242
6	ATF2	chr6:35226867-35227633	H1-hESC	embryonic stem cell:	n/a	chr6:35227231-35227242
7	ATF2	chr6:35226757-35227574	GM12878	blood:	n/a	chr6:35227231-35227242
8	ATF3	chr6:35226994-35227774	HepG2	liver:	n/a	chr6:35227233-35227240 chr6:35227229-35227244 chr6:35227232-35227243 chr6:35227231-35227244 chr6:35227229-35227242 chr6:35227232-35227240 chr6:35227232-35227252 chr6:35227231-35227242 chr6:35227231-35227242 chr6:35227233-35227243
9	ATF3	chr6:35226997-35227718	H1-hESC	embryonic stem cell:	n/a	chr6:35227232-35227243 chr6:35227232-35227240 chr6:35227233-35227243 chr6:35227233-35227240 chr6:35227231-35227242 chr6:35227229-35227244 chr6:35227229-35227242 chr6:35227232-35227252 chr6:35227231-35227242 chr6:35227231-35227244
10	ATF3	chr6:35226886-35227641	K562	blood:	n/a	chr6:35227232-35227243 chr6:35227232-35227240 chr6:35227233-35227243 chr6:35227233-35227240 chr6:35227231-35227242 chr6:35227229-35227244 chr6:35227229-35227242 chr6:35227232-35227252 chr6:35227231-35227242 chr6:35227231-35227244
11	ATF3	chr6:35226911-35227927	K562	blood:	n/a	chr6:35227232-35227243 chr6:35227232-35227240 chr6:35227233-35227243 chr6:35227233-35227240 chr6:35227231-35227242 chr6:35227229-35227244 chr6:35227229-35227242 chr6:35227232-35227252 chr6:35227231-35227242 chr6:35227231-35227244
12	ATF3	chr6:35227152-35227710	HepG2	liver:	n/a	chr6:35227232-35227243 chr6:35227232-35227240 chr6:35227233-35227243 chr6:35227233-35227240 chr6:35227231-35227242 chr6:35227229-35227244 chr6:35227229-35227242 chr6:35227232-35227252 chr6:35227231-35227242 chr6:35227231-35227244
13	ATF3	chr6:35226870-35227699	H1-hESC	embryonic stem cell:	n/a	chr6:35227232-35227243 chr6:35227232-35227240 chr6:35227233-35227243 chr6:35227233-35227240 chr6:35227231-35227242 chr6:35227229-35227244 chr6:35227229-35227242 chr6:35227232-35227252 chr6:35227231-35227242 chr6:35227231-35227244
14	ATF3	chr6:35227235-35227553	GM12878	blood:	n/a	n/a
15	ATF3	chr6:35227164-35227741	GM12878	blood:	n/a	chr6:35227232-35227243 chr6:35227232-35227240 chr6:35227233-35227243 chr6:35227233-35227240 chr6:35227231-35227242 chr6:35227229-35227244 chr6:35227229-35227242 chr6:35227232-35227252 chr6:35227231-35227242 chr6:35227231-35227244
16	ATF3	chr6:35227151-35227632	A549	lung:	n/a	chr6:35227232-35227243 chr6:35227232-35227240 chr6:35227233-35227243 chr6:35227233-35227240 chr6:35227231-35227242 chr6:35227229-35227244 chr6:35227229-35227242 chr6:35227232-35227252 chr6:35227231-35227242 chr6:35227231-35227244
17	ATF3	chr6:35226995-35227680	K562	blood:	n/a	chr6:35227232-35227243 chr6:35227232-35227240 chr6:35227233-35227243 chr6:35227233-35227240 chr6:35227231-35227242 chr6:35227229-35227244 chr6:35227229-35227242 chr6:35227232-35227252 chr6:35227231-35227242 chr6:35227231-35227244
18	ATF3	chr6:35227739-35227909	GM12878	blood:	n/a	n/a
19	BACH1	chr6:35227258-35228215	H1-hESC	embryonic stem cell:	n/a	n/a
20	BCL3	chr6:35227189-35227658	A549	lung:	n/a	chr6:35227625-35227638
21	BCL3	chr6:35227031-35227688	A549	lung:	n/a	chr6:35227625-35227638
22	BCLAF1	chr6:35226670-35227713	GM12878	blood:	n/a	chr6:35227625-35227638
23	BCLAF1	chr6:35226809-35227728	GM12878	blood:	n/a	chr6:35227625-35227638
24	BCLAF1	chr6:35227140-35227795	K562	blood:	n/a	chr6:35227625-35227638 chr6:35227748-35227761
25	BHLHE40	chr6:35227034-35227874	HepG2	liver:	n/a	chr6:35227556-35227572
26	BHLHE40	chr6:35226775-35228417	K562	blood:	n/a	chr6:35227556-35227572
27	BHLHE40	chr6:35227114-35227553	HepG2	liver:	n/a	n/a
28	BHLHE40	chr6:35226989-35228296	GM12878	blood:	n/a	chr6:35227556-35227572
29	BRCA1	chr6:35227017-35227639	GM12878	blood:	n/a	n/a
30	BRCA1	chr6:35226966-35227565	H1-hESC	embryonic stem cell:	n/a	n/a
31	BRCA1	chr6:35226937-35227561	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr6:35227047-35227565	HepG2	liver:	n/a	n/a
33	CBX3	chr6:35226582-35227664	K562	blood:	n/a	n/a
34	CBX3	chr6:35227176-35227587	K562	blood:	n/a	n/a
35	CCNT2	chr6:35226786-35228000	K562	blood:	n/a	chr6:35227763-35227772
36	CEBPB	chr6:35227106-35227582	K562	blood:	n/a	n/a
37	CEBPB	chr6:35227254-35227543	HepG2	liver:	n/a	n/a
38	CEBPB	chr6:35226470-35227622	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr6:35226925-35227568	A549	lung:	n/a	n/a
40	CEBPB	chr6:35226984-35227550	HepG2	liver:	n/a	n/a
41	CEBPB	chr6:35226973-35227518	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr6:35226973-35227346	K562	blood:	n/a	n/a
43	CEBPD	chr6:35226778-35227973	HepG2	liver:	n/a	n/a
44	CEBPD	chr6:35227225-35227780	HepG2	liver:	n/a	n/a
45	CHD1	chr6:35227463-35227715	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD1	chr6:35227057-35227765	GM12878	blood:	n/a	n/a
47	CHD2	chr6:35227070-35227967	HepG2	liver:	n/a	chr6:35227808-35227818
48	CHD2	chr6:35227050-35228073	GM12878	blood:	n/a	chr6:35227808-35227818
49	CHD2	chr6:35226976-35228285	H1-hESC	embryonic stem cell:	n/a	chr6:35227808-35227818
50	CHD2	chr6:35227095-35227885	K562	blood:	n/a	chr6:35227808-35227818

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:35227515-35227565	NT2-D1	testis:	n/a
2	chr6:35227515-35227565	NT2-D1	testis:	n/a
3	chr6:35227381-35227431	HIPEpiC	eye:	n/a
4	chr6:35227515-35227565	GM12892	blood:	n/a
5	chr6:35227381-35227431	MCF-7	breast:	n/a
6	chr6:35227228-35227278	AG09309	skin:	n/a
7	chr6:35227659-35227709	H1-hESC	embryonic stem cell:	embryo
8	chr6:35227515-35227565	GM12878	blood:	n/a
9	chr6:35227408-35227458	HIPEpiC	eye:	n/a
10	chr6:35227228-35227278	U87	brain:	n/a
11	chr6:35227386-35227436	HCPEpiC	choroid plexus:	n/a
12	chr6:35227228-35227278	HEEpiC	esophagus:	n/a
13	chr6:35227659-35227709	A549	lung:	n/a
14	chr6:35227228-35227278	BE2_C	brain:	n/a
15	chr6:35227391-35227441	NHDF-neo	bronchial:	n/a
16	chr6:35227659-35227709	SK-N-SH_RA	brain:	n/a
17	chr6:35227386-35227436	NH-A	brain:	n/a
18	chr6:35227408-35227458	SKMC	muscle:	n/a
19	chr6:35227228-35227278	GM06990	blood:	n/a
20	chr6:35227408-35227458	HEK293	kidney:	embryo
21	chr6:35227408-35227458	MCF-7	breast:	n/a
22	chr6:35227386-35227436	PANC-1	pancreas:	n/a
23	chr6:35227408-35227458	SK-N-MC	brain:	n/a
24	chr6:35227228-35227278	H1-hESC	embryonic stem cell:	embryo
25	chr6:35227391-35227441	AG09319	gingival:	n/a
26	chr6:35227381-35227431	AG04449	skin:	fetal
27	chr6:35227515-35227565	HUVEC	blood vessel:	n/a
28	chr6:35227386-35227436	Caco-2	colon:	n/a
29	chr6:35227228-35227278	NHDF-neo	bronchial:	n/a
30	chr6:35227391-35227441	HRE	kidney:	n/a
31	chr6:35227381-35227431	AG09309	skin:	n/a
32	chr6:35227515-35227565	BE2_C	brain:	n/a
33	chr6:35227318-35227368	K562	blood:	n/a
34	chr6:35227386-35227436	LNCaP	prostate:	n/a
35	chr6:35227318-35227368	SK-N-MC	brain:	n/a
36	chr6:35227659-35227709	AG09309	skin:	n/a
37	chr6:35227659-35227709	NB4	blood:	n/a
38	chr6:35227408-35227458	MCF10A-Er-Src	breast:	n/a
39	chr6:35227228-35227278	BJ	skin:	n/a
40	chr6:35227228-35227278	T-47D	breast:	n/a
41	chr6:35227386-35227436	IMR90	lung:	fetal
42	chr6:35227408-35227458	HL-60	blood:	n/a
43	chr6:35227381-35227431	IMR90	lung:	fetal
44	chr6:35227391-35227441	Caco-2	colon:	n/a
45	chr6:35227386-35227436	SK-N-SH_RA	brain:	n/a
46	chr6:35227386-35227436	AG10803	skin:	n/a
47	chr6:35227228-35227278	AoSMC	blood vessel:	n/a
48	chr6:35227381-35227431	SAEC	small airway:	n/a
49	chr6:35227515-35227565	NH-A	brain:	n/a
50	chr6:35227386-35227436	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:34854986..34858344-chr6:35226281..35229493,3	K562	blood:
2	chr6:30584692..30585507-chr6:35226872..35227816,2	Hela-S3	cervix:
3	chr6:35227633..35229883-chr6:35250389..35252972,3	K562	blood:
4	chr6:35226330..35228825-chr6:35434969..35437843,3	MCF-7	breast:
5	chr6:35227789..35229882-chr6:35245132..35248269,3	K562	blood:
6	chr16:72127858..72128539-chr6:35227141..35228082,2	Hela-S3	cervix:
7	chr6:34202035..34205684-chr6:35227191..35229008,3	K562	blood:
8	chr6:35227208..35228940-chr6:35464081..35465836,2	K562	blood:
9	chr11:62608457..62610625-chr6:35227226..35229917,3	K562	blood:
10	chr14:69864800..69865430-chr6:35227423..35228019,2	Hela-S3	cervix:
11	chr6:35226889..35228758-chr6:35259523..35261436,2	MCF-7	breast:
12	chr6:34856224..34858095-chr6:35226235..35229197,2	MCF-7	breast:
13	chr6:35227214..35229292-chr6:35260435..35263392,2	K562	blood:
14	chr5:40754825..40755698-chr6:35227582..35228201,2	Hela-S3	cervix:
15	chr6:35226066..35229330-chr6:35434346..35438215,4	K562	blood:
16	chr6:35227851..35229511-chr6:35235858..35238683,2	MCF-7	breast:
17	chr6:35227094..35229802-chr6:35433183..35436613,4	K562	blood:
18	chr6:35227857..35229725-chr6:35245132..35247985,2	K562	blood:
19	chr6:35225346..35227530-chr6:35309507..35311733,2	MCF-7	breast:
20	chr2:233561381..233562276-chr6:35227526..35228227,2	Hela-S3	cervix:
21	chr6:35227190..35227798-chr6:35435609..35436281,2	K562	blood:
22	chr19:2269411..2270247-chr6:35227292..35228062,2	Hela-S3	cervix:
23	chr3:73160089..73160610-chr6:35226975..35227865,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCP11-3	chr6:35226104-35227196	NONHSAT112170

Variant related genes	Relation type
ZNF76	TF binding region
ZNF76	CpG island
ENSG00000137309	chromatin interactions
ENSG00000100632	chromatin interactions
ENSG00000064999	chromatin interactions
ENSG00000064995	chromatin interactions
ENSG00000204120	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000065029	chromatin interactions
ENSG00000204568	chromatin interactions
ENSG00000007866	chromatin interactions
ENSG00000029364	chromatin interactions
ENSG00000167476	chromatin interactions
ENSG00000140830	chromatin interactions
ENSG00000112033	chromatin interactions
ENSG00000104904	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000198755	chromatin interactions
ENSG00000217004	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368482429	chr6:35227184-35227185	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
2	rs554347801	chr6:35227202-35227203	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs575796586	chr6:35227239-35227240	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
4	rs544319818	chr6:35227280-35227281	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
5	rs556213983	chr6:35227329-35227330	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs577983919	chr6:35227330-35227331	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs545375155	chr6:35227348-35227349	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs73407681	chr6:35227354-35227355	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs527989611	chr6:35227359-35227360	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs182496686	chr6:35227360-35227361	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs561483627	chr6:35227392-35227393	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs531915123	chr6:35227395-35227396	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs549930889	chr6:35227428-35227429	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs571305216	chr6:35227434-35227435	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs111472908	chr6:35227443-35227444	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
16	rs547369357	chr6:35227450-35227451	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs555582295	chr6:35227475-35227476	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs111406412	chr6:35227516-35227517	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs367838045	chr6:35227554-35227555	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
20	rs75453646	chr6:35227558-35227559	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
21	rs565494979	chr6:35227569-35227570	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
22	rs536559198	chr6:35227579-35227580	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
23	rs554413120	chr6:35227673-35227674	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
24	rs77920691	chr6:35227766-35227767	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
25	rs575892321	chr6:35227773-35227774	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
26	rs4713844	chr6:35227832-35227833	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs61415782	chr6:35227843-35227844	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556279094	chr6:35227888-35227889	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs578047293	chr6:35227891-35227892	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs188739971	chr6:35227892-35227893	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs115865960	chr6:35227901-35227902	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs144864895	chr6:35227911-35227912	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs543365122	chr6:35227912-35227913	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs13198880	chr6:35227932-35227933	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs192829259	chr6:35227936-35227937	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs13199107	chr6:35227940-35227941	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs13199111	chr6:35227952-35227953	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs28613121	chr6:35227974-35227975	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs190508611	chr6:35227998-35227999	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs564879686	chr6:35228014-35228015	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs13199228	chr6:35228019-35228020	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs532239810	chr6:35228058-35228059	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs559448221	chr6:35228065-35228066	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs547139319	chr6:35228091-35228092	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs559319200	chr6:35228135-35228136	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs528233048	chr6:35228149-35228150	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs140179900	chr6:35228163-35228164	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs9296144	chr6:35228215-35228216	Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs192491910	chr6:35228217-35228218	Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
small cell lung cancer	17426248	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35225400-35228000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:35226000-35228000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:35226000-35228000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:35226000-35228000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:35226000-35228000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr6:35226000-35228200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:35226000-35228200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:35226000-35228200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr6:35226000-35228200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr6:35226000-35228200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:35226000-35228200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr6:35226000-35228200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr6:35226000-35228200	Active TSS	Ovary	ovary
14	chr6:35226000-35228200	Active TSS	HSMM	muscle
15	chr6:35226000-35228200	Active TSS	NHLF	lung
16	chr6:35226000-35228400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:35226200-35227200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr6:35226200-35227800	Active TSS	Fetal Muscle Trunk	muscle
19	chr6:35226200-35228000	Active TSS	H1 Cell Line	embryonic stem cell
20	chr6:35226200-35228000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:35226200-35228000	Active TSS	Brain Hippocampus Middle	brain
22	chr6:35226200-35228000	Active TSS	Brain Substantia Nigra	brain
23	chr6:35226200-35228200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:35226200-35228200	Active TSS	Aorta	Aorta
25	chr6:35226200-35228400	Active TSS	Left Ventricle	heart
26	chr6:35226400-35227200	Flanking Active TSS	Liver	Liver
27	chr6:35226400-35228000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:35226400-35228000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:35226400-35228000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:35226400-35228000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr6:35226400-35228000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:35226400-35228000	Active TSS	Muscle Satellite Cultured Cells	--
33	chr6:35226400-35228000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:35226400-35228000	Active TSS	Brain Cingulate Gyrus	brain
35	chr6:35226400-35228000	Active TSS	Colon Smooth Muscle	Colon
36	chr6:35226400-35228000	Active TSS	Fetal Brain Male	brain
37	chr6:35226400-35228000	Active TSS	Fetal Kidney	kidney
38	chr6:35226400-35228000	Active TSS	Fetal Lung	lung
39	chr6:35226400-35228000	Active TSS	Placenta Amnion	Placenta Amnion
40	chr6:35226400-35228000	Active TSS	Stomach Smooth Muscle	stomach
41	chr6:35226400-35228000	Active TSS	Hela-S3	cervix
42	chr6:35226400-35228000	Active TSS	K562	blood
43	chr6:35226400-35228200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:35226400-35228200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:35226400-35228200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:35226400-35228200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:35226400-35228200	Active TSS	A549	lung
48	chr6:35226400-35228200	Active TSS	GM12878-XiMat	blood
49	chr6:35226400-35228200	Active TSS	NHDF-Ad	bronchial
50	chr6:35226400-35228400	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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