Variant report

Variant	rs2276607
Chromosome Location	chr2:20069380-20069381
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20066730..20071387-chr2:20098933..20103374,5	MCF-7	breast:
2	chr2:20066412..20068865-chr2:20069307..20071942,2	MCF-7	breast:
3	chr2:20068233..20072834-chr2:20097586..20102817,5	K562	blood:

Variant related genes	Relation type
ENSG00000271991	Chromatin interaction
ENSG00000228784	Chromatin interaction
ENSG00000183891	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12466415	0.92[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2276606	0.86[LWK][hapmap]
rs5021924	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[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	nsv873711	chr2:19950864-20073860	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv873712	chr2:19955245-20131079	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv873713	chr2:19955245-20144372	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv455819	chr2:19987440-20095690	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv581155	chr2:19987440-20095690	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv873714	chr2:20019616-20113088	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv873715	chr2:20059323-20144372	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 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	chr2:20063600-20070600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:20068200-20069400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:20068200-20069400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:20068200-20069400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:20068200-20069400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr2:20068200-20069400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:20068200-20069400	Flanking Active TSS	Fetal Intestine Small	intestine
8	chr2:20068200-20069400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
9	chr2:20068200-20069600	Flanking Active TSS	Fetal Thymus	thymus
10	chr2:20068400-20069400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr2:20068400-20069400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:20068400-20069400	Active TSS	Duodenum Mucosa	Duodenum
13	chr2:20068400-20069600	Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr2:20068600-20069400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:20068600-20069400	Active TSS	Primary T cells from cord blood	blood
16	chr2:20068600-20069400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
17	chr2:20068600-20069400	Active TSS	NHDF-Ad	bronchial
18	chr2:20068800-20069400	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr2:20068800-20069400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr2:20068800-20069400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:20068800-20069400	Enhancers	Fetal Brain Male	brain
22	chr2:20068800-20069400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr2:20068800-20069600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr2:20068800-20069800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr2:20068800-20075600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:20068800-20086200	Weak transcription	Spleen	Spleen
27	chr2:20068800-20097200	Weak transcription	Aorta	Aorta
28	chr2:20069000-20069400	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr2:20069000-20069400	Enhancers	Primary hematopoietic stem cells	blood
30	chr2:20069000-20069400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr2:20069000-20069400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr2:20069000-20069400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr2:20069000-20069400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr2:20069000-20069400	Enhancers	Brain Substantia Nigra	brain
35	chr2:20069000-20069400	Enhancers	Esophagus	oesophagus
36	chr2:20069000-20069400	Enhancers	Fetal Heart	heart
37	chr2:20069000-20069400	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr2:20069000-20069400	Weak transcription	Gastric	stomach
39	chr2:20069000-20069400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr2:20069000-20069600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:20069000-20069600	Enhancers	Lung	lung
42	chr2:20069000-20069800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:20069000-20069800	Enhancers	GM12878-XiMat	blood
44	chr2:20069000-20098200	Weak transcription	Right Atrium	heart
45	chr2:20069200-20069400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
46	chr2:20069200-20069400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:20069200-20069400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:20069200-20069400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:20069200-20069400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:20069200-20069400	Enhancers	Colonic Mucosa	Colon

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