Variant report

Variant	rs62199460
Chromosome Location	chr2:187291374-187291375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10164423	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170460	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10178380	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10188935	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189873	0.85[EUR][1000 genomes]
rs10190643	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201678	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202978	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206285	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208050	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208364	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208438	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383146	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384032	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389341	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389837	0.81[EUR][1000 genomes]
rs13390957	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391318	0.85[EUR][1000 genomes]
rs13396881	1.00[EUR][1000 genomes]
rs13398061	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13398442	0.85[EUR][1000 genomes]
rs13398794	1.00[ASN][1000 genomes]
rs13400819	1.00[ASN][1000 genomes]
rs13404172	0.89[EUR][1000 genomes]
rs13411835	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13413555	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13414293	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13414549	0.89[EUR][1000 genomes]
rs13418456	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13421613	0.89[EUR][1000 genomes]
rs13424471	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16827613	0.85[EUR][1000 genomes]
rs16827842	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28804162	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36103051	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55908314	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62197190	0.85[EUR][1000 genomes]
rs62197192	0.85[EUR][1000 genomes]
rs62197196	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197197	0.89[EUR][1000 genomes]
rs62197200	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197201	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197202	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197203	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197214	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197216	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197217	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197218	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197222	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197223	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197225	0.94[EUR][1000 genomes]
rs62197226	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197227	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197253	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197255	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197257	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198560	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198604	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198605	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198606	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62198607	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198611	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198612	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198652	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198656	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198658	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62198659	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199522	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199523	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199524	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199527	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62200577	1.00[ASN][1000 genomes]
rs62200580	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62200581	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62200583	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62200584	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73979177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73979185	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980894	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868949	chr2:186657142-187327560	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv428067	chr2:187171324-187334779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1005680	chr2:187244500-187320653	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv536080	chr2:187244500-187320653	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1001927	chr2:187264940-187325667	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv997835	chr2:187265730-187327561	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv536081	chr2:187265730-187327561	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187274200-187294000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:187276200-187293000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:187279600-187291400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:187279800-187300600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:187281600-187292800	Weak transcription	Liver	Liver
6	chr2:187282400-187299200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:187286800-187291400	Weak transcription	Primary B cells from cord blood	blood
8	chr2:187287200-187300800	Weak transcription	Ovary	ovary
9	chr2:187287400-187298000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:187287600-187292400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:187287600-187292600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:187287800-187293200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:187288600-187301200	Weak transcription	Gastric	stomach
14	chr2:187289200-187300800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:187289800-187291600	Enhancers	Fetal Intestine Small	intestine
16	chr2:187290000-187293000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr2:187290200-187298200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:187290400-187291800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:187290600-187304200	Weak transcription	Stomach Mucosa	stomach
20	chr2:187290800-187291600	Enhancers	Fetal Intestine Large	intestine
21	chr2:187290800-187291800	Enhancers	Fetal Lung	lung
22	chr2:187290800-187292000	Enhancers	HepG2	liver
23	chr2:187290800-187292400	Enhancers	Primary T cells from cord blood	blood
24	chr2:187291000-187291600	Enhancers	Small Intestine	intestine
25	chr2:187291000-187292000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr2:187291200-187291400	Enhancers	Fetal Stomach	stomach
27	chr2:187291200-187291800	Enhancers	Primary hematopoietic stem cells	blood
28	chr2:187291200-187291800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:187291200-187291800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr2:187291200-187291800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr2:187291200-187291800	Enhancers	GM12878-XiMat	blood
32	chr2:187291200-187292000	Enhancers	Primary B cells from peripheral blood	blood
33	chr2:187291200-187292000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:187291200-187292000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:187291200-187292400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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