Variant report

Variant	rs62199523
Chromosome Location	chr2:187301521-187301522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10164423	0.81[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	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189873	0.85[EUR][1000 genomes]
rs10190643	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201678	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206285	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208364	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383146	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384032	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389341	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389837	0.81[EUR][1000 genomes]
rs13390957	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391318	0.85[EUR][1000 genomes]
rs13396881	1.00[EUR][1000 genomes]
rs13398061	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	0.81[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	0.96[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	0.89[EUR][1000 genomes]
rs36103051	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55908314	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	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197203	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197214	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197216	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197217	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197218	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197222	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62197223	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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198604	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198605	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198606	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62198607	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198611	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198612	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198652	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198656	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62198658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62198659	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199460	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199522	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62199527	1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62200583	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62200584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73979177	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73979185	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187290600-187304200	Weak transcription	Stomach Mucosa	stomach
2	chr2:187291800-187301800	Weak transcription	GM12878-XiMat	blood
3	chr2:187293000-187304400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:187293200-187302600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:187293800-187322000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:187295400-187302600	Weak transcription	Brain Anterior Caudate	brain
7	chr2:187295600-187302400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:187296200-187302600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:187297200-187303200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:187297600-187305200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:187297800-187331200	Weak transcription	Left Ventricle	heart
12	chr2:187298000-187301800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:187298200-187304400	Weak transcription	Pancreas	Pancrea
14	chr2:187298800-187302000	Strong transcription	Fetal Intestine Large	intestine
15	chr2:187298800-187302200	Weak transcription	Esophagus	oesophagus
16	chr2:187298800-187302600	Weak transcription	Colonic Mucosa	Colon
17	chr2:187299000-187301600	Strong transcription	Duodenum Mucosa	Duodenum
18	chr2:187299200-187301600	Strong transcription	Stomach Smooth Muscle	stomach
19	chr2:187299200-187302200	Strong transcription	HepG2	liver
20	chr2:187299600-187302200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr2:187299600-187319600	Weak transcription	Adipose Nuclei	Adipose
22	chr2:187299600-187322800	Weak transcription	Aorta	Aorta
23	chr2:187299800-187305200	Weak transcription	Liver	Liver
24	chr2:187299800-187305600	Weak transcription	Spleen	Spleen
25	chr2:187300000-187301600	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:187300200-187305400	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr2:187300400-187302400	Strong transcription	Primary B cells from cord blood	blood
28	chr2:187300400-187302400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:187300400-187303600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:187300600-187301800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:187300800-187302000	ZNF genes & repeats	Fetal Stomach	stomach
32	chr2:187300800-187302200	Strong transcription	Ovary	ovary
33	chr2:187300800-187302600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:187301000-187302200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr2:187301000-187303400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr2:187301000-187303400	Weak transcription	Right Atrium	heart
37	chr2:187301200-187301600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr2:187301200-187301600	ZNF genes & repeats	Gastric	stomach
39	chr2:187301200-187316000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:187301400-187301600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:187301400-187301800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:187301400-187301800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:187301400-187301800	ZNF genes & repeats	Dnd41	blood
44	chr2:187301400-187303000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:187301400-187304200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:187301400-187321000	Weak transcription	Primary T cells from cord blood	blood
47	chr2:187301400-187322600	Weak transcription	Rectal Mucosa Donor 29	rectum

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