Variant report

Variant	rs61233180
Chromosome Location	chr2:37900901-37900902
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37900528..37902254-chr2:37903447..37906132,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11124597	0.91[ASN][1000 genomes]
rs12615921	0.89[ASN][1000 genomes]
rs17523989	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2240985	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4670750	0.86[ASN][1000 genomes]
rs4670751	0.85[ASN][1000 genomes]
rs4670758	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4670760	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59984376	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs729793	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9309014	0.95[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:66 , 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	chr2:37900000-37901400	Weak transcription	Esophagus	oesophagus
4	chr2:37900200-37901000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:37900200-37901200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:37900200-37901400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:37900200-37901400	Weak transcription	Fetal Thymus	thymus
8	chr2:37900200-37902000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:37900200-37902000	Weak transcription	NHEK	skin
10	chr2:37900200-37902200	Weak transcription	Left Ventricle	heart
11	chr2:37900200-37903000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:37900200-37903000	Weak transcription	Stomach Mucosa	stomach
13	chr2:37900200-37903200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:37900200-37903400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:37900200-37904800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:37900200-37905000	Weak transcription	Lung	lung
17	chr2:37900200-37905000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:37900200-37916000	Weak transcription	Psoas Muscle	Psoas
19	chr2:37900400-37901400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:37900400-37901400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:37900400-37901400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:37900400-37901400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:37900400-37901400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:37900400-37901400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr2:37900400-37901400	Weak transcription	Primary B cells from cord blood	blood
26	chr2:37900400-37901400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:37900400-37901400	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:37900400-37901400	Weak transcription	Fetal Stomach	stomach
29	chr2:37900400-37901400	Weak transcription	A549	lung
30	chr2:37900400-37901600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:37900400-37901600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:37900400-37901800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:37900400-37902000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:37900400-37902000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:37900400-37902000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:37900400-37902000	Weak transcription	GM12878-XiMat	blood
37	chr2:37900400-37902000	Weak transcription	HMEC	breast
38	chr2:37900400-37902000	Weak transcription	HSMMtube	muscle
39	chr2:37900400-37902200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:37900400-37902200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr2:37900400-37902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:37900400-37902200	Weak transcription	Placenta	Placenta
43	chr2:37900400-37902200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:37900400-37902400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:37900400-37902800	Weak transcription	HUVEC	blood vessel
46	chr2:37900400-37902800	Enhancers	K562	blood
47	chr2:37900400-37902800	Weak transcription	NH-A	brain
48	chr2:37900400-37902800	Weak transcription	NHDF-Ad	bronchial
49	chr2:37900400-37903200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr2:37900400-37903200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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