Variant report

Variant	rs6752119
Chromosome Location	chr2:37882690-37882691
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37881322..37883473-chr2:37897027..37898680,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10694	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs11124594	0.83[ASN][1000 genomes]
rs11124595	0.84[ASN][1000 genomes]
rs11883958	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12469780	0.83[JPT][hapmap]
rs12474331	0.83[JPT][hapmap]
rs12622958	0.83[CHB][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13387842	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13406302	0.96[CHB][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17021174	0.82[ASN][1000 genomes]
rs2041508	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2072419	0.96[CHB][hapmap];0.85[ASN][1000 genomes]
rs3731852	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs3731854	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs4670210	0.87[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs4670211	0.86[ASN][1000 genomes]
rs4670748	0.87[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs56809883	0.87[ASN][1000 genomes]
rs6544095	0.87[CHB][hapmap];0.86[ASN][1000 genomes]
rs67084656	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6709067	0.83[ASN][1000 genomes]
rs6709621	0.82[ASN][1000 genomes]
rs6711909	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6722589	0.87[ASN][1000 genomes]
rs6740127	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6752220	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs6752762	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6759224	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs7607934	0.82[ASN][1000 genomes]
rs7735	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs9742	0.91[CHB][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37853600-37897400	Weak transcription	Small Intestine	intestine
2	chr2:37872000-37892400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:37873800-37889000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:37874400-37883200	Enhancers	Adipose Nuclei	Adipose
5	chr2:37874600-37884000	Enhancers	Fetal Muscle Leg	muscle
6	chr2:37874600-37893000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:37875400-37883400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:37875800-37883800	Genic enhancers	NHDF-Ad	bronchial
9	chr2:37875800-37884400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:37875800-37891800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:37875800-37893600	Weak transcription	Fetal Intestine Large	intestine
12	chr2:37875800-37896400	Weak transcription	Fetal Intestine Small	intestine
13	chr2:37876000-37882800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:37876200-37884400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:37877400-37883200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr2:37878000-37886200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr2:37878400-37894000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:37878600-37882800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:37878600-37882800	Enhancers	Fetal Thymus	thymus
20	chr2:37878800-37886400	Weak transcription	Liver	Liver
21	chr2:37879200-37883800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:37879400-37883600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:37879600-37882800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:37879600-37888800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:37879600-37893000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:37879600-37893000	Genic enhancers	Osteobl	bone
27	chr2:37879800-37883000	Weak transcription	Brain Substantia Nigra	brain
28	chr2:37879800-37888600	Weak transcription	Fetal Stomach	stomach
29	chr2:37880000-37884200	Genic enhancers	NH-A	brain
30	chr2:37880200-37888400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:37880400-37884800	Weak transcription	Stomach Mucosa	stomach
32	chr2:37880400-37886000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:37880400-37897000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:37880600-37883000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:37880600-37885600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr2:37880800-37883200	Enhancers	Fetal Brain Male	brain
37	chr2:37880800-37885200	Enhancers	Primary B cells from cord blood	blood
38	chr2:37881000-37882800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr2:37881000-37883200	Enhancers	Brain Germinal Matrix	brain
40	chr2:37881000-37883400	Enhancers	Fetal Brain Female	brain
41	chr2:37881200-37883000	Flanking Active TSS	NHEK	skin
42	chr2:37881200-37885000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr2:37881200-37890800	Enhancers	Rectal Smooth Muscle	rectum
44	chr2:37881400-37883000	Enhancers	K562	blood
45	chr2:37881400-37884000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr2:37881400-37884000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr2:37881400-37885000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:37881400-37885200	Weak transcription	Gastric	stomach
49	chr2:37881400-37887600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:37881600-37882800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links