Variant report

Variant	rs199864763
Chromosome Location	chr17:63096051-63096052
allele	-/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	BCL11A	chr17:63096032-63096351	GM12878	blood:	n/a	n/a
2	TCF12	chr17:63095986-63097512	A549	lung:	n/a	n/a
3	YY1	chr17:63096021-63096389	HCT-116	colon:	n/a	n/a
4	EBF1	chr17:63095977-63097000	GM12878	blood:	n/a	chr17:63096189-63096200
5	RCOR1	chr17:63095655-63096980	K562	blood:	n/a	n/a
6	ATF2	chr17:63095924-63096675	GM12878	blood:	n/a	n/a
7	NFIC	chr17:63095997-63096917	GM12878	blood:	n/a	n/a
8	POLR2A	chr17:63095989-63096845	GM12878	blood:	n/a	n/a
9	FOXM1	chr17:63095952-63097046	GM12878	blood:	n/a	n/a
10	POLR2A	chr17:63096002-63096915	GM12892	blood:	n/a	n/a
11	FOS	chr17:63096028-63096425	MCF10A-Er-Src	breast:	n/a	n/a
12	NFIC	chr17:63096033-63096659	ECC-1	luminal epithelium:	n/a	n/a
13	BCL3	chr17:63096007-63096919	A549	lung:	n/a	chr17:63096771-63096784 chr17:63096763-63096772 chr17:63096597-63096606 chr17:63096816-63096829
14	NFATC1	chr17:63096006-63096644	GM12878	blood:	n/a	n/a
15	IRF4	chr17:63095984-63096821	GM12878	blood:	n/a	n/a
16	SMC3	chr17:63095992-63097070	GM12878	blood:	n/a	chr17:63096834-63096844 chr17:63096834-63096848
17	STAT5A	chr17:63095977-63096461	GM12878	blood:	n/a	n/a
18	PML	chr17:63095958-63097102	GM12878	blood:	n/a	n/a
19	RUNX3	chr17:63095886-63097010	GM12878	blood:	n/a	n/a
20	FOSL2	chr17:63095852-63097039	A549	lung:	n/a	n/a
21	MAX	chr17:63096024-63097087	A549	lung:	n/a	chr17:63096967-63096977
22	POLR2A	chr17:63096037-63096439	GM12891	blood:	n/a	n/a
23	PAX5	chr17:63096033-63096522	GM12878	blood:	n/a	n/a
24	STAT5A	chr17:63095994-63097050	GM12878	blood:	n/a	n/a
25	EP300	chr17:63096027-63096857	GM12878	blood:	n/a	chr17:63096798-63096814 chr17:63096789-63096805 chr17:63096820-63096829
26	RCOR1	chr17:63096028-63096951	GM12878	blood:	n/a	n/a
27	BHLHE40	chr17:63096003-63096984	GM12878	blood:	n/a	n/a
28	MTA3	chr17:63095979-63096614	GM12878	blood:	n/a	n/a
29	FOXM1	chr17:63096003-63097159	GM12878	blood:	n/a	n/a
30	YY1	chr17:63096042-63097042	GM12878	blood:	n/a	chr17:63096761-63096770 chr17:63096966-63096980 chr17:63096979-63096990
31	PBX3	chr17:63096016-63096225	GM12878	blood:	n/a	n/a
32	EP300	chr17:63096007-63096751	ECC-1	luminal epithelium:	n/a	n/a
33	SP1	chr17:63095990-63096704	GM12878	blood:	n/a	n/a
34	FOSL2	chr17:63096030-63096661	A549	lung:	n/a	n/a
35	JUND	chr17:63096028-63097031	K562	blood:	n/a	n/a
36	BATF	chr17:63096012-63096353	GM12878	blood:	n/a	n/a
37	EP300	chr17:63096017-63096956	GM12878	blood:	n/a	chr17:63096798-63096814 chr17:63096789-63096805 chr17:63096820-63096829
38	RCOR1	chr17:63096021-63096968	K562	blood:	n/a	n/a
39	ATF2	chr17:63095985-63096878	GM12878	blood:	n/a	n/a
40	NFIC	chr17:63096002-63096683	ECC-1	luminal epithelium:	n/a	n/a
41	POU2F2	chr17:63095987-63097065	GM12878	blood:	n/a	chr17:63096866-63096881 chr17:63096868-63096880 chr17:63096867-63096880
42	PAX5	chr17:63096031-63096860	GM12878	blood:	n/a	chr17:63096597-63096606
43	STAT3	chr17:63096042-63096681	GM12878	blood:	n/a	n/a
44	EBF1	chr17:63095396-63096993	GM12878	blood:	n/a	chr17:63096189-63096200
45	MTA3	chr17:63095928-63096958	GM12878	blood:	n/a	n/a
46	ZNF384	chr17:63095922-63096223	GM12878	blood:	n/a	n/a
47	IRF4	chr17:63095971-63096820	GM12878	blood:	n/a	n/a
48	RAD21	chr17:63096003-63097299	HCT-116	colon:	n/a	chr17:63096834-63096848 chr17:63096830-63096849 chr17:63096832-63096844
49	POLR2A	chr17:63096020-63096833	GM12892	blood:	n/a	n/a
50	POU2F2	chr17:63096044-63096397	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:63051381..63054935-chr17:63092846..63100708,11	MCF-7	breast:
2	chr17:63094402..63096834-chr17:63124738..63127386,3	MCF-7	breast:
3	chr17:62969521..62973434-chr17:63095329..63098484,3	MCF-7	breast:
4	chr17:63051785..63054961-chr17:63094963..63102322,8	MCF-7	breast:
5	chr17:63090606..63093224-chr17:63094471..63096809,2	K562	blood:
6	chr17:63056815..63059165-chr17:63094050..63096835,2	MCF-7	breast:
7	chr17:63050336..63051938-chr17:63095270..63097179,2	K562	blood:
8	chr17:62969603..62971143-chr17:63093866..63096603,2	K562	blood:
9	chr17:63094877..63096816-chr17:63119599..63121828,2	K562	blood:

Variant related genes	Relation type
ENSG00000263470	TF binding region
ENSG00000120063	Chromatin interaction
ENSG00000214174	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066765	chr17:62649313-63124303	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv575872	chr17:63084995-63111452	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv112229	chr17:63095123-63104894	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63082200-63096400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr17:63095000-63096200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr17:63095000-63096200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr17:63095200-63096200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr17:63095200-63096200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr17:63095200-63096200	Enhancers	Primary B cells from peripheral blood	blood
7	chr17:63095200-63096200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr17:63095200-63096200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:63095200-63096200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr17:63095200-63096200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:63095200-63096200	Enhancers	Adipose Nuclei	Adipose
12	chr17:63095200-63096200	Enhancers	Colon Smooth Muscle	Colon
13	chr17:63095200-63096200	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr17:63095200-63096200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr17:63095200-63096200	Enhancers	GM12878-XiMat	blood
16	chr17:63095200-63096200	Enhancers	NH-A	brain
17	chr17:63095200-63096200	Enhancers	NHEK	skin
18	chr17:63095400-63096200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr17:63095400-63096200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:63095400-63096200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:63095400-63096200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr17:63095400-63096200	Enhancers	Stomach Mucosa	stomach
23	chr17:63095400-63096200	Enhancers	HMEC	breast
24	chr17:63095400-63096200	Enhancers	HSMM	muscle
25	chr17:63095400-63096200	Enhancers	NHLF	lung
26	chr17:63095400-63096400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:63095400-63096400	Enhancers	Pancreas	Pancrea
28	chr17:63095400-63096600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:63095400-63097200	Enhancers	Small Intestine	intestine
30	chr17:63095600-63096200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr17:63095600-63096200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr17:63095600-63096200	Enhancers	NHDF-Ad	bronchial
33	chr17:63095800-63096200	Enhancers	Primary B cells from cord blood	blood
34	chr17:63095800-63096200	Active TSS	A549	lung
35	chr17:63095800-63096200	Enhancers	Osteobl	bone
36	chr17:63095800-63097200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:63096000-63096200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr17:63096000-63096200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr17:63096000-63096200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr17:63096000-63096200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr17:63096000-63096200	Enhancers	Primary T cells from cord blood	blood
42	chr17:63096000-63096200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr17:63096000-63096200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr17:63096000-63096200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr17:63096000-63096200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr17:63096000-63096200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr17:63096000-63096200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr17:63096000-63096200	Enhancers	Brain Angular Gyrus	brain
49	chr17:63096000-63096200	Enhancers	Brain Cingulate Gyrus	brain
50	chr17:63096000-63096200	Enhancers	Brain Hippocampus Middle	brain

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