Variant report

Variant	rs729793
Chromosome Location	chr2:37902133-37902134
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	chr2:37901542..37903159-chr2:37919185..37920897,2	K562	blood:
2	chr2:37900528..37902254-chr2:37903447..37906132,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11124597	0.91[ASN][1000 genomes]
rs12469780	0.82[AMR][1000 genomes]
rs12615921	0.97[ASN][1000 genomes]
rs17523989	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2240985	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4670750	0.85[ASN][1000 genomes]
rs4670751	0.84[ASN][1000 genomes]
rs4670758	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4670760	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59984376	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61233180	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9309014	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv833825	chr2:37808169-37985917	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription 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	7 gene(s)	inside rSNPs	diseases
4	nsv535645	chr2:37853282-37972640	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv535646	chr2:37853282-38014428	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873880	chr2:37868214-37926046	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv535647	chr2:37874563-38014428	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv998567	chr2:37886244-37910627	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37899200-37902800	Weak transcription	Hela-S3	cervix
2	chr2:37899800-37906800	Weak transcription	Gastric	stomach
3	chr2:37900200-37902200	Weak transcription	Left Ventricle	heart
4	chr2:37900200-37903000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:37900200-37903000	Weak transcription	Stomach Mucosa	stomach
6	chr2:37900200-37903200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:37900200-37903400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:37900200-37904800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:37900200-37905000	Weak transcription	Lung	lung
10	chr2:37900200-37905000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:37900200-37916000	Weak transcription	Psoas Muscle	Psoas
12	chr2:37900400-37902200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:37900400-37902200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:37900400-37902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:37900400-37902200	Weak transcription	Placenta	Placenta
16	chr2:37900400-37902200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:37900400-37902400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:37900400-37902800	Weak transcription	HUVEC	blood vessel
19	chr2:37900400-37902800	Enhancers	K562	blood
20	chr2:37900400-37902800	Weak transcription	NH-A	brain
21	chr2:37900400-37902800	Weak transcription	NHDF-Ad	bronchial
22	chr2:37900400-37903200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:37900400-37903200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:37900400-37903200	Weak transcription	Osteobl	bone
25	chr2:37900400-37903400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:37900400-37903400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:37900400-37903400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr2:37900400-37903800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:37900400-37903800	Weak transcription	Primary T cells from cord blood	blood
30	chr2:37900400-37905000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:37900400-37905200	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:37900400-37905200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:37900400-37906800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:37900400-37910000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr2:37900800-37902200	Weak transcription	Fetal Heart	heart
36	chr2:37901000-37902200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:37901000-37903000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr2:37901400-37902200	Enhancers	Primary B cells from cord blood	blood
39	chr2:37901400-37902200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:37901400-37902400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr2:37901400-37902600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:37901400-37903200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr2:37901400-37903800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:37901400-37903800	Enhancers	Fetal Stomach	stomach
45	chr2:37901400-37904000	Enhancers	H9 Cell Line	embryonic stem cell
46	chr2:37901400-37904200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:37901400-37904400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr2:37901400-37905000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:37901600-37902400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:37901600-37904600	Weak transcription	Esophagus	oesophagus

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