Variant report

Variant	rs73221992
Chromosome Location	chr2:20641223-20641224
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20633992..20655025-chr2:20829429..20854651,127	MCF-7	breast:
2	chr2:20640108..20658716-chr2:20812153..20855311,258	MCF-7	breast:
3	chr2:20635815..20638085-chr2:20639443..20641718,2	K562	blood:

Variant related genes	Relation type
ENSG00000118960	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs58365598	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7579125	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][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	nsv455830	chr2:20621404-20659862	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv581166	chr2:20621404-20659862	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
3	nsv873717	chr2:20625174-20756900	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv873718	chr2:20627875-20752152	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv873719	chr2:20628882-20756900	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20625000-20646000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:20629200-20643400	Weak transcription	Right Atrium	heart
3	chr2:20630600-20644800	Weak transcription	Lung	lung
4	chr2:20632600-20644800	Weak transcription	Aorta	Aorta
5	chr2:20633200-20641600	Weak transcription	Placenta	Placenta
6	chr2:20637400-20641800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:20638400-20644400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:20638400-20644600	Weak transcription	Brain Angular Gyrus	brain
9	chr2:20638400-20644600	Weak transcription	Psoas Muscle	Psoas
10	chr2:20638600-20641600	Weak transcription	K562	blood
11	chr2:20638600-20643200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:20639000-20643400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:20639000-20643400	Weak transcription	Ovary	ovary
14	chr2:20639200-20642800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:20639200-20643400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:20639200-20643400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:20639400-20642800	Weak transcription	Liver	Liver
18	chr2:20639400-20643200	Weak transcription	NHDF-Ad	bronchial
19	chr2:20639400-20643400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:20639400-20643400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:20639400-20643400	Weak transcription	Osteobl	bone
22	chr2:20639400-20643600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:20639400-20643600	Weak transcription	NH-A	brain
24	chr2:20639400-20646000	Weak transcription	HSMMtube	muscle
25	chr2:20639600-20641600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:20639600-20641600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:20639600-20642600	Weak transcription	Hela-S3	cervix
28	chr2:20639600-20642800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:20639600-20642800	Weak transcription	Stomach Mucosa	stomach
30	chr2:20639600-20643200	Weak transcription	HSMM	muscle
31	chr2:20639600-20643200	Weak transcription	HUVEC	blood vessel
32	chr2:20639600-20643200	Weak transcription	NHLF	lung
33	chr2:20639600-20643400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:20639600-20643400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:20639600-20643400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:20639600-20644400	Weak transcription	Left Ventricle	heart
37	chr2:20639600-20644400	Weak transcription	Pancreas	Pancrea
38	chr2:20639600-20644800	Weak transcription	Colonic Mucosa	Colon
39	chr2:20639600-20646000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:20639600-20646000	Weak transcription	Gastric	stomach
41	chr2:20639600-20646200	Weak transcription	HMEC	breast
42	chr2:20639800-20643200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:20639800-20643200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:20639800-20643400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:20640200-20642000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr2:20640200-20642600	Weak transcription	Fetal Intestine Small	intestine
47	chr2:20640400-20641600	Enhancers	Primary B cells from cord blood	blood
48	chr2:20640400-20643200	Weak transcription	Adipose Nuclei	Adipose
49	chr2:20640400-20643200	Weak transcription	HepG2	liver
50	chr2:20640600-20641400	Weak transcription	A549	lung

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