Variant report

Variant	rs57681139
Chromosome Location	chr2:98454473-98454474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10432626	0.82[ASN][1000 genomes]
rs11678591	0.88[ASN][1000 genomes]
rs11680018	0.81[EUR][1000 genomes]
rs11680321	0.93[ASN][1000 genomes]
rs11680883	0.81[EUR][1000 genomes]
rs11681535	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11684749	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11690687	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11690737	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11691494	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11692010	0.95[ASN][1000 genomes]
rs12052222	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12052836	0.81[ASN][1000 genomes]
rs12052846	0.82[ASN][1000 genomes]
rs12104810	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12995673	0.80[EUR][1000 genomes]
rs13004090	0.82[EUR][1000 genomes]
rs13008968	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13020776	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13023980	0.92[ASN][1000 genomes]
rs13028954	0.90[ASN][1000 genomes]
rs13032265	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17489454	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17489915	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17490429	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1838797	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1875699	0.80[ASN][1000 genomes]
rs2044458	0.93[ASN][1000 genomes]
rs2044459	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2084176	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2278700	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2305143	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2871183	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34373359	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34502870	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34528940	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35098301	0.80[ASN][1000 genomes]
rs35424768	0.95[ASN][1000 genomes]
rs35505530	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4311104	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55886305	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs58546246	0.88[ASN][1000 genomes]
rs6711101	0.93[ASN][1000 genomes]
rs6746768	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6748124	0.88[ASN][1000 genomes]
rs6757357	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71412824	0.80[EUR][1000 genomes]
rs717417	0.80[EUR][1000 genomes]
rs7564773	0.82[ASN][1000 genomes]
rs7601898	0.82[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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98405800-98459600	Weak transcription	Stomach Mucosa	stomach
2	chr2:98406400-98469200	Weak transcription	A549	lung
3	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
4	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
5	chr2:98410000-98456200	Weak transcription	Thymus	Thymus
6	chr2:98410000-98456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:98410000-98456800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:98410000-98457400	Weak transcription	Small Intestine	intestine
9	chr2:98422000-98456200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:98424000-98475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:98424200-98461600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:98425600-98456800	Weak transcription	Esophagus	oesophagus
13	chr2:98425600-98461000	Weak transcription	Brain Germinal Matrix	brain
14	chr2:98426000-98456800	Weak transcription	Right Ventricle	heart
15	chr2:98426200-98456800	Weak transcription	Pancreas	Pancrea
16	chr2:98426400-98456200	Weak transcription	NHEK	skin
17	chr2:98426400-98456800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:98428000-98466600	Weak transcription	K562	blood
19	chr2:98428200-98456600	Weak transcription	Brain Angular Gyrus	brain
20	chr2:98428600-98456000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:98428600-98456600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:98428600-98461200	Weak transcription	Fetal Brain Male	brain
23	chr2:98428600-98464600	Weak transcription	HSMMtube	muscle
24	chr2:98428800-98485000	Weak transcription	NHLF	lung
25	chr2:98429000-98470600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:98429200-98456600	Weak transcription	Fetal Lung	lung
27	chr2:98430000-98467800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:98430600-98456200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:98430600-98456800	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:98430800-98456000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:98430800-98456000	Weak transcription	Ovary	ovary
32	chr2:98431000-98466400	Weak transcription	NH-A	brain
33	chr2:98434200-98484000	Weak transcription	NHDF-Ad	bronchial
34	chr2:98434400-98456000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:98434400-98466400	Weak transcription	Brain Substantia Nigra	brain
36	chr2:98434400-98485800	Weak transcription	Lung	lung
37	chr2:98436600-98456600	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:98438200-98456200	Weak transcription	Spleen	Spleen
39	chr2:98439000-98455600	Weak transcription	Fetal Thymus	thymus
40	chr2:98442200-98455400	Weak transcription	Fetal Stomach	stomach
41	chr2:98442200-98456800	Weak transcription	Aorta	Aorta
42	chr2:98445200-98459800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr2:98445800-98460000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr2:98446000-98460200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr2:98446000-98475000	Weak transcription	Gastric	stomach
46	chr2:98446200-98455600	Weak transcription	Fetal Intestine Small	intestine
47	chr2:98446200-98456000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:98446200-98456800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:98446400-98457000	Weak transcription	Colonic Mucosa	Colon
50	chr2:98447200-98456400	Weak transcription	Fetal Heart	heart

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