Variant report

Variant	rs73994706
Chromosome Location	chr17:63095965-63095966
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	RCOR1	chr17:63095655-63096980	K562	blood:	n/a	n/a
2	ATF2	chr17:63095924-63096675	GM12878	blood:	n/a	n/a
3	FOXM1	chr17:63095952-63097046	GM12878	blood:	n/a	n/a
4	PML	chr17:63095958-63097102	GM12878	blood:	n/a	n/a
5	RUNX3	chr17:63095886-63097010	GM12878	blood:	n/a	n/a
6	FOSL2	chr17:63095852-63097039	A549	lung:	n/a	n/a
7	EBF1	chr17:63095396-63096993	GM12878	blood:	n/a	chr17:63096189-63096200
8	MTA3	chr17:63095928-63096958	GM12878	blood:	n/a	n/a
9	ZNF384	chr17:63095922-63096223	GM12878	blood:	n/a	n/a
10	NFIC	chr17:63095943-63096839	GM12878	blood:	n/a	n/a
11	POLR2A	chr17:63095962-63096530	U87	brain:	n/a	n/a
12	RAD21	chr17:63095938-63097190	HCT-116	colon:	n/a	chr17:63096834-63096848 chr17:63096830-63096849 chr17:63096832-63096844
13	FOS	chr17:63095952-63096573	MCF10A-Er-Src	breast:	n/a	n/a
14	CTCF	chr17:63095924-63097695	A549	lung:	n/a	chr17:63096833-63096849 chr17:63096832-63096850 chr17:63096837-63096850 chr17:63096766-63096779 chr17:63096834-63096847 chr17:63096817-63096830 chr17:63096827-63096848 chr17:63096834-63096847
15	GATA3	chr17:63095836-63097084	A549	lung:	n/a	n/a
16	RUNX3	chr17:63095899-63097022	GM12878	blood:	n/a	n/a
17	EBF1	chr17:63095946-63096761	GM12878	blood:	n/a	chr17:63096189-63096200
18	BCL3	chr17:63095965-63096414	GM12878	blood:	n/a	n/a
19	CEBPB	chr17:63095946-63096847	GM12878	blood:	n/a	n/a
20	RAD21	chr17:63095943-63097680	SK-N-SH	brain:	n/a	chr17:63096834-63096848 chr17:63096830-63096849 chr17:63096832-63096844

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:52 , 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	chr17:63092800-63096000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:63094000-63096000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:63094400-63096000	Weak transcription	Primary T cells from cord blood	blood
5	chr17:63095000-63096200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr17:63095000-63096200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr17:63095200-63096000	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr17:63095200-63096000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr17:63095200-63096000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr17:63095200-63096200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr17:63095200-63096200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr17:63095200-63096200	Enhancers	Primary B cells from peripheral blood	blood
13	chr17:63095200-63096200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr17:63095200-63096200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:63095200-63096200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr17:63095200-63096200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr17:63095200-63096200	Enhancers	Adipose Nuclei	Adipose
18	chr17:63095200-63096200	Enhancers	Colon Smooth Muscle	Colon
19	chr17:63095200-63096200	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr17:63095200-63096200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr17:63095200-63096200	Enhancers	GM12878-XiMat	blood
22	chr17:63095200-63096200	Enhancers	NH-A	brain
23	chr17:63095200-63096200	Enhancers	NHEK	skin
24	chr17:63095400-63096000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr17:63095400-63096000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr17:63095400-63096000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr17:63095400-63096000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:63095400-63096000	Enhancers	Brain Anterior Caudate	brain
29	chr17:63095400-63096000	Enhancers	Duodenum Mucosa	Duodenum
30	chr17:63095400-63096000	Enhancers	Hela-S3	cervix
31	chr17:63095400-63096200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr17:63095400-63096200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr17:63095400-63096200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr17:63095400-63096200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr17:63095400-63096200	Enhancers	Stomach Mucosa	stomach
36	chr17:63095400-63096200	Enhancers	HMEC	breast
37	chr17:63095400-63096200	Enhancers	HSMM	muscle
38	chr17:63095400-63096200	Enhancers	NHLF	lung
39	chr17:63095400-63096400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr17:63095400-63096400	Enhancers	Pancreas	Pancrea
41	chr17:63095400-63096600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr17:63095400-63097200	Enhancers	Small Intestine	intestine
43	chr17:63095600-63096000	Enhancers	Brain Substantia Nigra	brain
44	chr17:63095600-63096200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr17:63095600-63096200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr17:63095600-63096200	Enhancers	NHDF-Ad	bronchial
47	chr17:63095800-63096000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr17:63095800-63096000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr17:63095800-63096200	Enhancers	Primary B cells from cord blood	blood
50	chr17:63095800-63096200	Active TSS	A549	lung

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