Variant report

Variant	rs4632313
Chromosome Location	chr2:173994389-173994390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173985743..173988657-chr2:173992178..173994964,4	K562	blood:
2	chr2:173988691..173991779-chr2:173993829..173996976,3	K562	blood:
3	chr2:173989210..173991573-chr2:173993201..173996190,3	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12465665	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12996371	1.00[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs16861266	1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16861269	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16861279	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16861295	0.82[JPT][hapmap];0.94[EUR][1000 genomes]
rs16861304	0.82[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs16861323	0.82[CHD][hapmap];0.94[EUR][1000 genomes]
rs2053964	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2119124	0.84[CHB][hapmap];0.84[JPT][hapmap];0.94[EUR][1000 genomes]
rs2289395	0.88[LWK][hapmap];0.88[YRI][hapmap];0.83[EUR][1000 genomes]
rs3769164	0.81[CHB][hapmap];0.80[CHD][hapmap];0.94[EUR][1000 genomes]
rs3769166	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs3769175	0.81[CHD][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes]
rs3769176	0.82[CHB][hapmap]
rs3769179	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs3769183	0.82[CHB][hapmap];0.94[EUR][1000 genomes]
rs3769190	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3769206	1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3769208	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56676752	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59935415	0.88[EUR][1000 genomes]
rs61032750	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6753354	0.82[CHD][hapmap]
rs7566222	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs7571788	0.94[EUR][1000 genomes]
rs7602751	0.95[CHB][hapmap];0.85[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:57 , 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	chr2:173978200-173995200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:173981000-174000800	Weak transcription	Fetal Thymus	thymus
4	chr2:173982800-174006400	Weak transcription	Fetal Lung	lung
5	chr2:173984200-174000200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:173984400-173994600	Weak transcription	Pancreas	Pancrea
7	chr2:173984600-173994800	Weak transcription	Liver	Liver
8	chr2:173984600-173995400	Weak transcription	Fetal Stomach	stomach
9	chr2:173985200-173995400	Weak transcription	Adipose Nuclei	Adipose
10	chr2:173985400-173995400	Weak transcription	Ovary	ovary
11	chr2:173986000-173995000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:173986200-173997200	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:173986800-173995200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:173988000-173999200	Weak transcription	Dnd41	blood
15	chr2:173988200-174004600	Weak transcription	Fetal Intestine Large	intestine
16	chr2:173989200-174006000	Weak transcription	Primary B cells from cord blood	blood
17	chr2:173989600-173995400	Weak transcription	Aorta	Aorta
18	chr2:173989600-173995400	Weak transcription	Psoas Muscle	Psoas
19	chr2:173989600-174003800	Weak transcription	Right Ventricle	heart
20	chr2:173989600-174007600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:173989800-173995200	Weak transcription	NHLF	lung
22	chr2:173989800-173995400	Weak transcription	Left Ventricle	heart
23	chr2:173989800-173995400	Weak transcription	Right Atrium	heart
24	chr2:173990000-173995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:173990000-173995400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:173990200-173994400	Weak transcription	A549	lung
27	chr2:173991800-173995000	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:173991800-173995000	Weak transcription	GM12878-XiMat	blood
29	chr2:173991800-173995800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:173991800-173999600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:173991800-174000800	Weak transcription	NH-A	brain
32	chr2:173991800-174005200	Weak transcription	K562	blood
33	chr2:173992000-173994400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:173992000-173994800	Weak transcription	NHEK	skin
35	chr2:173992000-173995200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:173992000-173995200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:173992000-173995200	Weak transcription	HMEC	breast
38	chr2:173992000-173995400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:173992000-173995400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:173992000-173999400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:173992000-173999400	Weak transcription	Osteobl	bone
42	chr2:173992000-174000800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:173992200-173999200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:173993000-173995200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:173993200-173999400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:173994000-173994400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:173994000-173994400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr2:173994000-173994400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr2:173994000-173994800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:173994000-173995000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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