Variant report

Variant	rs72940977
Chromosome Location	chr4:143004011-143004012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143003226..143005064-chr4:143008065..143011031,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2636673	1.00[AMR][1000 genomes]
rs59640122	1.00[AMR][1000 genomes]
rs72933280	1.00[AMR][1000 genomes]
rs72939088	0.81[AFR][1000 genomes]
rs72940949	1.00[AMR][1000 genomes]
rs72940957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946952	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946966	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv830096	chr4:142867099-143023761	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv428775	chr4:142943213-143050195	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv830097	chr4:142949705-143136372	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142948400-143029200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:142961800-143009600	Weak transcription	A549	lung
3	chr4:142966000-143010000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:142966000-143013800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:142978200-143006200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:142985800-143011000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:142988000-143015400	Weak transcription	Aorta	Aorta
8	chr4:142988200-143029400	Weak transcription	Left Ventricle	heart
9	chr4:142988400-143008600	Weak transcription	NHDF-Ad	bronchial
10	chr4:142990000-143051200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:142996800-143012600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:142997000-143006000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:142997600-143014000	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:142997800-143024600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:143000200-143005000	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr4:143000200-143006400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:143000800-143004200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:143001000-143004600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:143001000-143004800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr4:143001200-143004400	Strong transcription	Primary T cells from cord blood	blood
21	chr4:143001400-143040600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:143001600-143007800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:143001600-143010400	Weak transcription	NHEK	skin
24	chr4:143001800-143004800	Strong transcription	HMEC	breast
25	chr4:143002000-143004400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:143002000-143009000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:143002000-143011200	Weak transcription	HSMM	muscle
28	chr4:143002600-143010000	Weak transcription	Osteobl	bone
29	chr4:143002600-143041800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr4:143002800-143008000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:143002800-143009600	Weak transcription	Fetal Heart	heart
32	chr4:143003000-143006800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr4:143003400-143004200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:143003600-143005800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:143003600-143006200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr4:143003600-143006200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:143003800-143004200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:143003800-143006000	Weak transcription	Dnd41	blood
39	chr4:143003800-143006000	Weak transcription	HSMMtube	muscle
40	chr4:143003800-143007000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr4:143004000-143005400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr4:143004000-143006400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:143004000-143015400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr4:143004000-143017000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:143004000-143021800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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