Variant report

Variant	rs2053964
Chromosome Location	chr2:173974439-173974440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173972593..173975547-chr2:173981865..173984989,3	MCF-7	breast:
2	chr2:173972338..173974560-chr2:173994516..173997449,2	K562	blood:
3	chr2:173965020..173969595-chr2:173970768..173975249,5	K562	blood:

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12465665	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12996371	1.00[CHB][hapmap];0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs16861266	1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16861269	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16861279	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16861295	0.81[JPT][hapmap];0.91[YRI][hapmap];0.94[EUR][1000 genomes]
rs16861304	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs16861323	1.00[GIH][hapmap];0.82[YRI][hapmap];0.94[EUR][1000 genomes]
rs2119124	0.85[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.94[EUR][1000 genomes]
rs2289395	1.00[GIH][hapmap];0.83[EUR][1000 genomes]
rs3739103	1.00[GIH][hapmap]
rs3769164	0.81[CHB][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];0.94[EUR][1000 genomes]
rs3769166	0.81[JPT][hapmap]
rs3769175	0.81[JPT][hapmap];0.94[EUR][1000 genomes]
rs3769176	0.82[CHB][hapmap]
rs3769179	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs3769183	0.83[CHB][hapmap];0.80[JPT][hapmap];0.92[YRI][hapmap];0.94[EUR][1000 genomes]
rs3769190	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769206	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3769208	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4632313	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56676752	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59935415	0.88[EUR][1000 genomes]
rs61032750	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6753354	0.85[JPT][hapmap]
rs7566222	0.85[CHB][hapmap];0.83[JPT][hapmap];0.83[YRI][hapmap]
rs7571788	0.94[EUR][1000 genomes]
rs7602751	0.95[CHB][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173945400-173991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:173953800-173991400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:173955600-173984000	Weak transcription	Gastric	stomach
4	chr2:173955800-173977200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:173957800-173983800	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:173958000-173983800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:173962200-173983800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:173965000-173987400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:173965400-173984400	Weak transcription	Aorta	Aorta
10	chr2:173965400-173987200	Weak transcription	Dnd41	blood
11	chr2:173965400-173989200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:173965600-173983800	Weak transcription	Adipose Nuclei	Adipose
13	chr2:173968200-173974600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:173968600-173990600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:173969200-173987600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:173970000-173983200	Weak transcription	Right Atrium	heart
17	chr2:173971000-173974800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:173971600-173974800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:173971600-173985600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:173971800-173980400	Weak transcription	Ovary	ovary
21	chr2:173972200-173980200	Weak transcription	Psoas Muscle	Psoas
22	chr2:173972200-173983800	Weak transcription	Lung	lung
23	chr2:173972600-173974800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:173972600-173983800	Weak transcription	Right Ventricle	heart
25	chr2:173973200-173974800	Enhancers	HSMM	muscle
26	chr2:173973200-173974800	Enhancers	NHDF-Ad	bronchial
27	chr2:173973200-173983800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:173973400-173974600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:173973400-173974600	Enhancers	Colon Smooth Muscle	Colon
30	chr2:173973400-173974600	Enhancers	Fetal Lung	lung
31	chr2:173973400-173974600	Enhancers	Hela-S3	cervix
32	chr2:173973400-173974800	Enhancers	Rectal Smooth Muscle	rectum
33	chr2:173973400-173974800	Enhancers	HMEC	breast
34	chr2:173973600-173974800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:173973600-173974800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:173973600-173974800	Enhancers	HSMMtube	muscle
37	chr2:173973800-173974600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:173973800-173974600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr2:173973800-173974600	Enhancers	NHEK	skin
40	chr2:173973800-173974800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:173973800-173974800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:173973800-173977200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:173974000-173974800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:173974000-173974800	Enhancers	Small Intestine	intestine
45	chr2:173974200-173974600	Active TSS	Stomach Smooth Muscle	stomach
46	chr2:173974200-173974600	Enhancers	HepG2	liver
47	chr2:173974200-173974800	Enhancers	Fetal Intestine Large	intestine
48	chr2:173974200-173974800	Genic enhancers	K562	blood
49	chr2:173974400-173974600	Enhancers	Fetal Stomach	stomach
50	chr2:173974400-173974600	Enhancers	GM12878-XiMat	blood

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