Variant report

Variant	rs28405657
Chromosome Location	chr4:120059890-120059891
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120059391..120062207-chr4:120131058..120133617,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11559058	0.83[EUR][1000 genomes]
rs17050059	0.83[EUR][1000 genomes]
rs4452412	0.91[ASN][1000 genomes]
rs59534418	0.83[EUR][1000 genomes]
rs60631510	0.81[ASN][1000 genomes]
rs6534129	0.91[ASN][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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120052800-120060000	Weak transcription	Fetal Intestine Large	intestine
2	chr4:120055800-120061800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:120056200-120061200	Enhancers	HSMM	muscle
4	chr4:120056400-120061800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:120056800-120060200	Active TSS	Fetal Heart	heart
6	chr4:120056800-120060600	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr4:120057000-120060200	Active TSS	Aorta	Aorta
8	chr4:120057000-120060800	Active TSS	Left Ventricle	heart
9	chr4:120057000-120063600	Active TSS	Right Ventricle	heart
10	chr4:120057000-120068400	Active TSS	Right Atrium	heart
11	chr4:120057200-120066600	Weak transcription	Pancreas	Pancrea
12	chr4:120057400-120060200	Weak transcription	HMEC	breast
13	chr4:120057600-120060200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:120057600-120060200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:120057600-120061000	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr4:120057600-120061600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:120057800-120060200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:120057800-120060200	Weak transcription	HUVEC	blood vessel
19	chr4:120057800-120060400	Weak transcription	Fetal Intestine Small	intestine
20	chr4:120057800-120060400	Weak transcription	HepG2	liver
21	chr4:120057800-120060800	Weak transcription	A549	lung
22	chr4:120057800-120061000	Weak transcription	Psoas Muscle	Psoas
23	chr4:120058000-120060000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:120058000-120061400	Enhancers	HSMMtube	muscle
25	chr4:120058400-120060400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:120058400-120060800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:120058400-120060800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:120058400-120061000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr4:120058400-120061000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:120058600-120060400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr4:120058600-120060800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr4:120058600-120061200	Enhancers	Osteobl	bone
33	chr4:120058600-120061800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr4:120058800-120061200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:120058800-120061200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:120058800-120062000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr4:120059000-120060800	Enhancers	Primary T cells from cord blood	blood
38	chr4:120059000-120061800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr4:120059200-120061000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr4:120059200-120061400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr4:120059200-120061400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:120059200-120061400	Enhancers	NHDF-Ad	bronchial
43	chr4:120059200-120061800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:120059400-120060000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr4:120059400-120060000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:120059400-120060400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr4:120059600-120060000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:120059600-120060000	Weak transcription	NHLF	lung
49	chr4:120059600-120060800	Weak transcription	Fetal Muscle Leg	muscle
50	chr4:120059600-120076200	Weak transcription	Fetal Muscle Trunk	muscle

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