Variant report

Variant	rs57214946
Chromosome Location	chr4:120061540-120061541
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:120060171..120063563-chr4:120128883..120130877,3	MCF-7	breast:
2	chr4:120059391..120062207-chr4:120131058..120133617,2	MCF-7	breast:
3	chr4:120060909..120063531-chr4:120066181..120067927,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16997547	1.00[EUR][1000 genomes]
rs16997549	1.00[EUR][1000 genomes]
rs17050041	1.00[EUR][1000 genomes]
rs17050049	1.00[EUR][1000 genomes]
rs17050052	1.00[EUR][1000 genomes]
rs17050056	1.00[EUR][1000 genomes]
rs28703190	1.00[EUR][1000 genomes]
rs57626477	1.00[EUR][1000 genomes]
rs60317087	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6813762	1.00[EUR][1000 genomes]
rs6824074	1.00[EUR][1000 genomes]
rs6837925	1.00[EUR][1000 genomes]
rs6839198	1.00[EUR][1000 genomes]
rs6843548	1.00[EUR][1000 genomes]
rs6854148	1.00[EUR][1000 genomes]
rs72908513	1.00[EUR][1000 genomes]
rs7678499	1.00[EUR][1000 genomes]
rs7678948	1.00[EUR][1000 genomes]
rs9684201	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1007214	chr4:120007913-120112460	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1003827	chr4:120008227-120112460	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv522386	chr4:120009147-120115379	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	nsv1007619	chr4:120014898-120112460	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120055800-120061800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:120056400-120061800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr4:120057000-120063600	Active TSS	Right Ventricle	heart
4	chr4:120057000-120068400	Active TSS	Right Atrium	heart
5	chr4:120057200-120066600	Weak transcription	Pancreas	Pancrea
6	chr4:120057600-120061600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:120058600-120061800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr4:120058800-120062000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr4:120059000-120061800	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr4:120059200-120061800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:120059600-120076200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:120060000-120061800	Enhancers	Fetal Intestine Large	intestine
13	chr4:120060000-120070400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:120060400-120061800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:120060400-120061800	Enhancers	Fetal Intestine Small	intestine
16	chr4:120060400-120061800	Enhancers	Stomach Mucosa	stomach
17	chr4:120060400-120062400	Enhancers	HepG2	liver
18	chr4:120060400-120070200	Weak transcription	Aorta	Aorta
19	chr4:120060600-120061600	Enhancers	Primary B cells from cord blood	blood
20	chr4:120060800-120061600	Enhancers	A549	lung
21	chr4:120060800-120061800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:120061000-120061600	Flanking Active TSS	HUVEC	blood vessel
23	chr4:120061000-120062600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:120061000-120063000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:120061200-120061800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:120061200-120061800	Enhancers	Primary T cells from cord blood	blood
27	chr4:120061200-120061800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:120061200-120061800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:120061200-120062400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:120061200-120063400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:120061200-120070200	Weak transcription	Psoas Muscle	Psoas
32	chr4:120061400-120061600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:120061400-120061800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr4:120061400-120061800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr4:120061400-120062000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr4:120061400-120062200	Enhancers	Fetal Heart	heart
37	chr4:120061400-120062200	Weak transcription	Left Ventricle	heart
38	chr4:120061400-120062600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr4:120061400-120083200	Weak transcription	HSMMtube	muscle
40	chr4:120061400-120089200	Weak transcription	Fetal Muscle Leg	muscle

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