Variant report

Variant	rs13427422
Chromosome Location	chr2:98501573-98501574
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10167772	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10168543	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10168709	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10169155	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10175129	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10176826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10180434	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10180837	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10183768	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10184393	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10184457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10184552	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10188497	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10188713	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10189414	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10191101	0.85[CHB][hapmap]
rs10192322	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10206684	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10208070	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10209970	0.85[CHB][hapmap]
rs10210299	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10210880	0.82[EUR][1000 genomes]
rs1024086	0.85[CHB][hapmap]
rs11893437	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11894541	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11895170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11897301	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12712117	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12712147	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12712162	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12712163	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12712172	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12992955	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13000585	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13008678	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13008904	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13009300	0.89[ASN][1000 genomes]
rs13012645	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13387725	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13404788	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1446327	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1503202	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1960329	1.00[CEU][hapmap];0.84[CHB][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1982336	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs2121271	0.85[CHB][hapmap]
rs2293679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2305142	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs34305873	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35203092	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35402416	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35776557	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35807655	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35940587	0.83[EUR][1000 genomes]
rs36079497	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3821053	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55817781	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6543088	0.85[CHB][hapmap]
rs6707719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6707750	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6712078	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6713504	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6718982	1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[YRI][hapmap];0.82[EUR][1000 genomes]
rs6721323	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs6721467	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6736735	0.85[CEU][hapmap]
rs6751727	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6756969	0.82[EUR][1000 genomes]
rs6760008	0.85[CHB][hapmap]
rs6875	0.85[CHB][hapmap]
rs718159	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7557495	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7578638	0.82[EUR][1000 genomes]
rs7588227	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7591374	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7594928	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7595039	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7599043	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7605288	0.83[EUR][1000 genomes]
rs9784011	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9808558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats 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	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98447800-98502800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:98478600-98502200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:98478600-98502800	Weak transcription	Colonic Mucosa	Colon
4	chr2:98478600-98502800	Weak transcription	Pancreas	Pancrea
5	chr2:98487200-98502800	Weak transcription	Aorta	Aorta
6	chr2:98487400-98502400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:98487400-98502600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:98488200-98502200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr2:98488200-98502200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:98488200-98502600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:98488400-98502000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:98488400-98502000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:98488400-98502000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:98488400-98502200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:98488400-98502800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:98488400-98502800	Weak transcription	NHDF-Ad	bronchial
17	chr2:98488400-98502800	Weak transcription	NHLF	lung
18	chr2:98488600-98502000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:98488600-98502200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:98488600-98502400	Weak transcription	A549	lung
21	chr2:98488800-98502000	Weak transcription	Osteobl	bone
22	chr2:98489000-98501600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:98489000-98502000	Weak transcription	HSMMtube	muscle
24	chr2:98489000-98502200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:98489000-98502600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:98489000-98502800	Weak transcription	Ovary	ovary
27	chr2:98489200-98502200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr2:98489200-98502600	Weak transcription	HMEC	breast
29	chr2:98489200-98502800	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:98489200-98502800	Weak transcription	Psoas Muscle	Psoas
31	chr2:98489600-98502800	Weak transcription	Spleen	Spleen
32	chr2:98490000-98502000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:98490000-98502000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:98490000-98502200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:98490000-98502800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:98490000-98502800	Weak transcription	Lung	lung
37	chr2:98490200-98502000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:98490200-98502800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:98490200-98502800	Weak transcription	Fetal Stomach	stomach
40	chr2:98490400-98502000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:98491600-98501600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:98492600-98501600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:98493000-98502200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:98494000-98502200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:98494200-98502000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:98495000-98502000	Weak transcription	Fetal Lung	lung
47	chr2:98495200-98502000	Weak transcription	Brain Germinal Matrix	brain
48	chr2:98495600-98502200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:98495800-98501600	Weak transcription	Fetal Intestine Small	intestine
50	chr2:98495800-98502200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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