Variant report

Variant	rs2785685
Chromosome Location	chr6:75308709-75308710
allele	C/T
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	TBL1XR1	chr6:75308127-75308743	GM12878	blood:	n/a	n/a
2	TCF3	chr6:75308120-75308782	GM12878	blood:	n/a	n/a
3	FOXM1	chr6:75307934-75308809	GM12878	blood:	n/a	n/a
4	FOS	chr6:75308076-75308749	MCF10A-Er-Src	breast:	n/a	chr6:75308230-75308241
5	EP300	chr6:75307659-75308837	GM12878	blood:	n/a	chr6:75308746-75308756 chr6:75308690-75308704
6	CEBPB	chr6:75307937-75308782	Hela-S3	cervix:	n/a	n/a
7	FOS	chr6:75308025-75308837	MCF10A-Er-Src	breast:	n/a	chr6:75308230-75308241
8	FOXA1	chr6:75308301-75308961	T-47D	breast:	n/a	n/a
9	FOSL2	chr6:75308387-75308741	A549	lung:	n/a	n/a
10	BHLHE40	chr6:75307961-75308720	GM12878	blood:	n/a	n/a
11	FOXA1	chr6:75308392-75308741	T-47D	breast:	n/a	n/a
12	EP300	chr6:75308011-75308791	Hela-S3	cervix:	n/a	chr6:75308746-75308756 chr6:75308690-75308704
13	TEAD4	chr6:75308304-75308807	A549	lung:	n/a	n/a
14	TEAD4	chr6:75308180-75308887	A549	lung:	n/a	n/a
15	SPI1	chr6:75308467-75308849	GM12891	blood:	n/a	chr6:75308691-75308700
16	ATF2	chr6:75308012-75308947	GM12878	blood:	n/a	n/a
17	MEF2A	chr6:75307472-75308856	GM12878	blood:	n/a	chr6:75307795-75307804 chr6:75307791-75307807 chr6:75307792-75307807 chr6:75307794-75307805 chr6:75307790-75307811 chr6:75307790-75307811 chr6:75308694-75308702 chr6:75307838-75307852 chr6:75307788-75307809 chr6:75307792-75307808
18	RUNX3	chr6:75308048-75308865	GM12878	blood:	n/a	n/a
19	CEBPB	chr6:75308028-75308731	GM12878	blood:	n/a	n/a
20	TCF12	chr6:75307903-75309222	A549	lung:	n/a	chr6:75308746-75308755
21	STAT3	chr6:75307998-75308732	Hela-S3	cervix:	n/a	n/a
22	FOXA2	chr6:75308241-75309062	A549	lung:	n/a	n/a
23	NFIC	chr6:75307446-75308908	GM12878	blood:	n/a	n/a
24	SP1	chr6:75308031-75309003	A549	lung:	n/a	n/a
25	MTA3	chr6:75307957-75308773	GM12878	blood:	n/a	n/a
26	EP300	chr6:75308095-75309013	A549	lung:	n/a	chr6:75308746-75308756 chr6:75308690-75308704
27	SPI1	chr6:75308181-75309086	GM12878	blood:	n/a	chr6:75308691-75308700 chr6:75309042-75309051
28	MAZ	chr6:75308156-75308711	GM12878	blood:	n/a	n/a
29	GATA3	chr6:75308408-75308789	T-47D	breast:	n/a	n/a
30	BCL11A	chr6:75308014-75308820	GM12878	blood:	n/a	n/a
31	EP300	chr6:75308039-75308815	GM12878	blood:	n/a	chr6:75308746-75308756 chr6:75308690-75308704
32	ATF3	chr6:75308268-75308758	A549	lung:	n/a	n/a
33	GATA3	chr6:75308135-75308840	T-47D	breast:	n/a	n/a
34	ATF2	chr6:75307579-75308786	GM12878	blood:	n/a	n/a
35	BATF	chr6:75308112-75308740	GM12878	blood:	n/a	n/a
36	FOS	chr6:75308062-75308784	MCF10A-Er-Src	breast:	n/a	chr6:75308230-75308241
37	JUND	chr6:75308044-75308747	Hela-S3	cervix:	n/a	n/a
38	NFATC1	chr6:75308015-75308768	GM12878	blood:	n/a	n/a
39	RAD21	chr6:75308123-75308735	Hela-S3	cervix:	n/a	n/a
40	TCF12	chr6:75308329-75308831	A549	lung:	n/a	chr6:75308746-75308755
41	FOXM1	chr6:75307424-75308753	GM12878	blood:	n/a	n/a
42	POLR2A	chr6:75308312-75308786	PANC-1	pancreas:	n/a	n/a
43	ZBTB33	chr6:75308403-75308798	A549	lung:	n/a	n/a
44	BRCA1	chr6:75308059-75308785	Hela-S3	cervix:	n/a	n/a
45	MAX	chr6:75308110-75308817	A549	lung:	n/a	n/a
46	SPI1	chr6:75308529-75308796	GM12878	blood:	n/a	chr6:75308691-75308700
47	EP300	chr6:75308170-75308975	A549	lung:	n/a	chr6:75308746-75308756 chr6:75308690-75308704
48	TCF7L2	chr6:75308333-75309014	PANC-1	pancreas:	n/a	n/a
49	EBF1	chr6:75308151-75308747	GM12878	blood:	n/a	chr6:75308623-75308634
50	NFIC	chr6:75307163-75308772	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:75307090..75309713-chr6:75464873..75467404,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272243	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1041658	0.85[EUR][1000 genomes]
rs10434815	0.81[EUR][1000 genomes]
rs1318620	0.89[EUR][1000 genomes]
rs1334508	0.81[EUR][1000 genomes]
rs1537951	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1855568	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2502498	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2781831	0.90[EUR][1000 genomes]
rs2781832	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2785671	0.85[EUR][1000 genomes]
rs2785682	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2785683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2785686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349776	0.81[EUR][1000 genomes]
rs473061	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs475854	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs475924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs488583	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs490353	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs490721	0.93[EUR][1000 genomes]
rs493138	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs498111	0.85[EUR][1000 genomes]
rs502220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs508557	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs512609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517112	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517712	0.85[EUR][1000 genomes]
rs524179	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs527379	0.85[EUR][1000 genomes]
rs531195	0.85[EUR][1000 genomes]
rs551041	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs564969	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs567525	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs575612	0.85[EUR][1000 genomes]
rs6904268	0.81[EUR][1000 genomes]
rs6910123	0.81[EUR][1000 genomes]
rs6912037	0.89[EUR][1000 genomes]
rs7756702	0.85[EUR][1000 genomes]
rs9341476	0.85[EUR][1000 genomes]
rs9341482	0.81[EUR][1000 genomes]
rs9341483	0.81[EUR][1000 genomes]
rs9343176	0.85[EUR][1000 genomes]
rs9343184	0.81[EUR][1000 genomes]
rs9350554	0.85[EUR][1000 genomes]
rs9352141	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9359092	0.81[EUR][1000 genomes]
rs9360807	0.81[EUR][1000 genomes]
rs9360809	0.81[EUR][1000 genomes]
rs9360810	0.81[EUR][1000 genomes]
rs9360811	0.81[EUR][1000 genomes]
rs9360827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520746	chr6:75211546-75691814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv917283	chr6:75234428-75641440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv830694	chr6:75245483-75446282	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75306400-75309400	Enhancers	HMEC	breast
2	chr6:75306400-75309400	Enhancers	HSMM	muscle
3	chr6:75306400-75309600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:75306800-75309000	Enhancers	Osteobl	bone
5	chr6:75306800-75309200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:75306800-75309200	Enhancers	NHEK	skin
7	chr6:75307000-75309200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:75307000-75316800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:75307000-75319000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:75307200-75312000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:75307400-75309600	Enhancers	Hela-S3	cervix
12	chr6:75307400-75312800	Weak transcription	NHDF-Ad	bronchial
13	chr6:75307600-75313000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:75308000-75309400	Flanking Active TSS	GM12878-XiMat	blood
15	chr6:75308400-75308800	Enhancers	NH-A	brain
16	chr6:75308400-75309000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:75308400-75310600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:75308600-75308800	Enhancers	A549	lung
19	chr6:75308600-75313200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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