Variant report

Variant	rs7593290
Chromosome Location	chr2:98398214-98398215
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98397492..98399885-chr2:98406316..98408049,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10166513	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10167772	0.94[ASN][1000 genomes]
rs10168543	1.00[ASN][1000 genomes]
rs10175129	0.94[ASN][1000 genomes]
rs10176826	0.85[CHB][hapmap]
rs10180434	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10180722	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10183768	0.94[ASN][1000 genomes]
rs10184457	0.85[CHB][hapmap]
rs10187061	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10188497	1.00[ASN][1000 genomes]
rs10188713	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10189414	0.94[ASN][1000 genomes]
rs10191101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10191483	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs10192322	0.82[CHB][hapmap]
rs10202138	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10206684	0.94[ASN][1000 genomes]
rs10209970	0.88[ASN][1000 genomes]
rs10210520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210880	0.88[ASN][1000 genomes]
rs11886417	0.88[ASN][1000 genomes]
rs11893437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11894541	0.94[ASN][1000 genomes]
rs11894895	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11895170	0.85[CHB][hapmap]
rs11897301	1.00[ASN][1000 genomes]
rs12712117	1.00[ASN][1000 genomes]
rs12712120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12712162	0.88[ASN][1000 genomes]
rs12712163	0.81[ASN][1000 genomes]
rs12712172	0.94[ASN][1000 genomes]
rs12992955	0.94[ASN][1000 genomes]
rs13000585	0.94[ASN][1000 genomes]
rs13004862	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13008904	0.94[ASN][1000 genomes]
rs13009300	0.82[AMR][1000 genomes]
rs13010004	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446327	1.00[ASN][1000 genomes]
rs17489259	0.83[AMR][1000 genomes]
rs1960329	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1982336	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2121271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293679	0.85[CHB][hapmap]
rs34190123	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34305873	0.91[ASN][1000 genomes]
rs34414288	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34469351	0.84[ASN][1000 genomes]
rs34635139	0.82[AMR][1000 genomes]
rs35185431	1.00[ASN][1000 genomes]
rs35203092	1.00[ASN][1000 genomes]
rs35263587	0.80[AMR][1000 genomes]
rs35776557	0.90[ASN][1000 genomes]
rs35807655	0.94[ASN][1000 genomes]
rs35940587	0.88[ASN][1000 genomes]
rs36079497	0.88[ASN][1000 genomes]
rs3821053	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55753459	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6543088	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6543111	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6707719	0.85[CHB][hapmap]
rs6712078	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6718982	0.88[ASN][1000 genomes]
rs6721323	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6728312	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738401	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6751727	0.94[ASN][1000 genomes]
rs6755021	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6756969	0.88[ASN][1000 genomes]
rs6760008	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68115667	0.88[ASN][1000 genomes]
rs6875	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71429373	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs718159	1.00[ASN][1000 genomes]
rs7557495	0.94[ASN][1000 genomes]
rs7570009	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578638	0.88[ASN][1000 genomes]
rs7582298	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7588227	0.88[ASN][1000 genomes]
rs7594928	0.94[ASN][1000 genomes]
rs7595039	1.00[ASN][1000 genomes]
rs7599043	0.94[ASN][1000 genomes]
rs7605288	0.88[ASN][1000 genomes]
rs9808558	0.85[CHB][hapmap]
rs9973490	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr2:98352200-98398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:98366200-98400000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:98368600-98413000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:98369600-98398800	Strong transcription	Fetal Muscle Leg	muscle
5	chr2:98370600-98407600	Weak transcription	HUVEC	blood vessel
6	chr2:98371200-98398600	Strong transcription	Primary B cells from cord blood	blood
7	chr2:98377400-98408000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:98377400-98410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:98378600-98421400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:98382800-98398600	Weak transcription	Small Intestine	intestine
11	chr2:98382800-98419800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:98383000-98408600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:98383200-98408800	Weak transcription	Fetal Brain Male	brain
14	chr2:98383200-98420200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:98383400-98405600	Weak transcription	A549	lung
16	chr2:98384000-98398800	Weak transcription	Stomach Mucosa	stomach
17	chr2:98385400-98399200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:98385800-98398800	Strong transcription	Fetal Stomach	stomach
19	chr2:98386000-98398800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:98386200-98398800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr2:98387800-98408000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:98387800-98408000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:98387800-98438200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:98388000-98398800	Strong transcription	Fetal Intestine Small	intestine
25	chr2:98388000-98407800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:98388000-98408600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:98389000-98408200	Weak transcription	NH-A	brain
28	chr2:98390200-98407600	Weak transcription	Psoas Muscle	Psoas
29	chr2:98390200-98408000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr2:98391000-98402400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:98391400-98408000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:98392000-98405000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:98392200-98404400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:98392200-98407600	Weak transcription	NHLF	lung
35	chr2:98392200-98409200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:98392400-98398400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:98392400-98398400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:98392400-98400400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:98392400-98401400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:98392400-98402400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:98392400-98402400	Weak transcription	Adipose Nuclei	Adipose
42	chr2:98392400-98402400	Weak transcription	Ovary	ovary
43	chr2:98392400-98402400	Weak transcription	Thymus	Thymus
44	chr2:98392400-98402400	Weak transcription	NHDF-Ad	bronchial
45	chr2:98392400-98402600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr2:98392400-98402600	Weak transcription	Placenta	Placenta
47	chr2:98392400-98402600	Weak transcription	Osteobl	bone
48	chr2:98392400-98403000	Weak transcription	Dnd41	blood
49	chr2:98392400-98403200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:98392400-98403200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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