Variant report

Variant	rs56953250
Chromosome Location	chr2:233665278-233665279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11883745	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11883794	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11884898	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11885029	0.81[AMR][1000 genomes]
rs11885497	0.95[EUR][1000 genomes]
rs11885646	0.97[EUR][1000 genomes]
rs11890879	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11892639	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894688	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11897789	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11900295	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11900327	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901015	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11904714	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271702	0.83[EUR][1000 genomes]
rs2289913	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2289916	0.87[ASN][1000 genomes]
rs2293781	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2305138	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2344614	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2880899	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34487721	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3738904	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3816336	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3817310	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4144794	1.00[EUR][1000 genomes]
rs55686138	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55913849	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56140815	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56344253	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56357073	0.81[EUR][1000 genomes]
rs57092158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57211905	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57513852	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57657135	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57667610	0.83[EUR][1000 genomes]
rs57986228	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58268778	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58466616	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58520085	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58835825	0.83[EUR][1000 genomes]
rs59488869	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59502980	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59514271	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59667905	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60103392	0.83[EUR][1000 genomes]
rs60532570	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61518838	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6719766	0.83[EUR][1000 genomes]
rs73092767	0.98[EUR][1000 genomes]
rs73092790	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73102244	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73102257	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73102286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73106355	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73106363	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73107693	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73108328	0.83[EUR][1000 genomes]
rs73108346	0.85[EUR][1000 genomes]
rs73999704	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73999707	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7560000	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7564410	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7578385	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7598518	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601559	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7606011	0.93[EUR][1000 genomes];0.90[ASN][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	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460134	chr2:233639909-233714686	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3427756	chr2:233661496-233680721	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	1 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	chr2:233642000-233667200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:233648800-233666800	Strong transcription	HSMM	muscle
3	chr2:233648800-233668000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:233649000-233680600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:233649200-233665800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:233649400-233665400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:233649400-233666000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:233649400-233667600	Strong transcription	Fetal Thymus	thymus
9	chr2:233649600-233666800	Strong transcription	HepG2	liver
10	chr2:233649800-233666400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:233649800-233667000	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:233651200-233668000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:233651400-233665600	Strong transcription	Primary hematopoietic stem cells	blood
14	chr2:233651400-233668000	Strong transcription	Liver	Liver
15	chr2:233651800-233665600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:233651800-233666000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:233651800-233668000	Strong transcription	Dnd41	blood
18	chr2:233652200-233666400	Strong transcription	Primary T cells from cord blood	blood
19	chr2:233652400-233666600	Strong transcription	Primary B cells from cord blood	blood
20	chr2:233654400-233666200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:233655600-233689200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:233656600-233671200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:233656800-233674000	Weak transcription	Fetal Heart	heart
24	chr2:233657400-233665400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:233657600-233665400	Weak transcription	Esophagus	oesophagus
26	chr2:233657800-233665400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:233658000-233671200	Weak transcription	NHLF	lung
28	chr2:233658400-233665400	Weak transcription	Lung	lung
29	chr2:233658400-233671200	Weak transcription	Gastric	stomach
30	chr2:233658800-233671200	Weak transcription	Small Intestine	intestine
31	chr2:233659000-233671200	Weak transcription	Fetal Brain Male	brain
32	chr2:233659600-233666400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:233659600-233671200	Weak transcription	Pancreas	Pancrea
34	chr2:233659600-233671600	Weak transcription	Spleen	Spleen
35	chr2:233659800-233671200	Weak transcription	Brain Substantia Nigra	brain
36	chr2:233659800-233672400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:233660400-233666400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:233660800-233688600	Weak transcription	Psoas Muscle	Psoas
39	chr2:233661000-233665400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:233661000-233670200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:233661200-233671000	Weak transcription	NHDF-Ad	bronchial
42	chr2:233661200-233671200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:233661400-233671200	Weak transcription	Right Ventricle	heart
44	chr2:233661600-233665400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:233661800-233670800	Weak transcription	Colonic Mucosa	Colon
46	chr2:233661800-233671000	Weak transcription	NHEK	skin
47	chr2:233661800-233671200	Weak transcription	Aorta	Aorta
48	chr2:233661800-233671200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:233662200-233665400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:233662200-233665400	Weak transcription	Fetal Brain Female	brain

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