Variant report

Variant	rs56676752
Chromosome Location	chr2:173999860-173999861
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173938869..173942300-chr2:173999393..174002549,3	K562	blood:
2	chr2:173998706..174001151-chr2:174010395..174012464,2	K562	blood:
3	chr2:173938732..173942486-chr2:173997338..174001096,5	K562	blood:
4	chr2:173994976..173996675-chr2:173999550..174001864,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12465665	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12996371	0.93[ASN][1000 genomes]
rs16861266	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16861269	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16861279	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16861295	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16861323	0.89[EUR][1000 genomes]
rs2053964	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2119124	0.89[EUR][1000 genomes]
rs3769164	0.89[EUR][1000 genomes]
rs3769175	0.89[EUR][1000 genomes]
rs3769183	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3769190	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3769206	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3769208	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4632313	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59935415	0.83[EUR][1000 genomes]
rs61032750	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7571788	0.89[EUR][1000 genomes]
rs7602751	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173974400-174005200	Weak transcription	Fetal Intestine Small	intestine
2	chr2:173981000-174000800	Weak transcription	Fetal Thymus	thymus
3	chr2:173982800-174006400	Weak transcription	Fetal Lung	lung
4	chr2:173984200-174000200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:173988200-174004600	Weak transcription	Fetal Intestine Large	intestine
6	chr2:173989200-174006000	Weak transcription	Primary B cells from cord blood	blood
7	chr2:173989600-174003800	Weak transcription	Right Ventricle	heart
8	chr2:173989600-174007600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:173991800-174000800	Weak transcription	NH-A	brain
10	chr2:173991800-174005200	Weak transcription	K562	blood
11	chr2:173992000-174000800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:173995200-174000600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:173995800-174000800	Weak transcription	A549	lung
14	chr2:173996000-174001000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:173996000-174001400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:173996200-174000600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:173996400-174000800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:173996600-174001200	Weak transcription	Brain Germinal Matrix	brain
19	chr2:173996600-174012800	Weak transcription	Ovary	ovary
20	chr2:173996600-174013400	Weak transcription	Aorta	Aorta
21	chr2:173996800-174001000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:173997200-174000200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:173997400-174000800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:173997400-174000800	Weak transcription	Psoas Muscle	Psoas
25	chr2:173997400-174000800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:173997400-174001000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:173997400-174001200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:173997400-174001200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:173997400-174001200	Weak transcription	Fetal Brain Male	brain
30	chr2:173997400-174003400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:173997600-174000800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:173997600-174001600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:173998000-174001400	Weak transcription	Fetal Brain Female	brain
34	chr2:173998400-174000200	Weak transcription	Fetal Heart	heart
35	chr2:173998400-174000800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:173998800-174002800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr2:173999000-174000600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:173999200-174000200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:173999200-174000400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr2:173999200-174000800	Enhancers	NHDF-Ad	bronchial
41	chr2:173999200-174001000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr2:173999200-174001600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:173999200-174001800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:173999200-174002000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:173999200-174002200	Enhancers	Dnd41	blood
46	chr2:173999400-174000000	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr2:173999400-174000200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:173999400-174000200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:173999400-174000400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:173999400-174000800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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