Variant report

Variant	rs1053652
Chromosome Location	chr2:113409837-113409838
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10167360	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10171024	0.82[EUR][1000 genomes]
rs10184339	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779885	0.86[ASN][1000 genomes]
rs11123146	0.85[ASN][1000 genomes]
rs11680446	0.89[CHB][hapmap]
rs11889567	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12467747	0.86[ASN][1000 genomes]
rs12475403	0.85[ASN][1000 genomes]
rs12479380	0.81[CHB][hapmap]
rs12612089	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12612238	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12618806	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13023016	0.83[CHB][hapmap]
rs17515708	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17515715	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2048873	0.95[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34282612	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35048989	0.84[EUR][1000 genomes]
rs3827758	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs4261730	0.86[ASN][1000 genomes]
rs4848288	0.81[JPT][hapmap]
rs4849084	0.83[CHB][hapmap]
rs4849086	0.89[CEU][hapmap];0.94[CHB][hapmap];0.82[EUR][1000 genomes]
rs4849091	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4849097	0.83[ASN][1000 genomes]
rs58662040	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60372418	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6542074	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6705487	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs6725228	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72823516	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7371700	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs908545	0.85[CHB][hapmap]
rs9308674	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9308675	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9308676	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113404400-113410600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:113404800-113412600	Weak transcription	Gastric	stomach
3	chr2:113404800-113414400	Weak transcription	Esophagus	oesophagus
4	chr2:113404800-113416200	Weak transcription	Ovary	ovary
5	chr2:113404800-113416800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:113405000-113411200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:113405000-113413200	Strong transcription	Placenta	Placenta
8	chr2:113405000-113416200	Weak transcription	Aorta	Aorta
9	chr2:113405000-113416400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:113405000-113423200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:113405200-113411600	Strong transcription	Fetal Intestine Large	intestine
12	chr2:113405200-113413600	Strong transcription	Left Ventricle	heart
13	chr2:113405200-113419000	Weak transcription	Stomach Mucosa	stomach
14	chr2:113405200-113423200	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr2:113405200-113423800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr2:113405400-113412000	Strong transcription	Primary B cells from cord blood	blood
17	chr2:113405400-113412600	Weak transcription	Pancreas	Pancrea
18	chr2:113405400-113422600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:113405400-113423200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:113405400-113423200	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:113405600-113410000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr2:113405600-113411000	Strong transcription	Psoas Muscle	Psoas
23	chr2:113405600-113411600	Strong transcription	Primary hematopoietic stem cells	blood
24	chr2:113405600-113422000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:113405800-113411000	Genic enhancers	Liver	Liver
26	chr2:113405800-113422600	Strong transcription	Fetal Muscle Leg	muscle
27	chr2:113406000-113414600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:113406000-113419600	Strong transcription	Fetal Lung	lung
29	chr2:113406000-113423000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:113406200-113410400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:113406200-113410400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:113406200-113423400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:113406200-113423400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:113406200-113423600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:113406200-113424600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:113406400-113414400	Weak transcription	Right Ventricle	heart
37	chr2:113406400-113423000	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr2:113406400-113423000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:113406400-113423200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:113406800-113411800	Strong transcription	Brain Angular Gyrus	brain
41	chr2:113406800-113412800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:113406800-113423200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr2:113407000-113412200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:113407000-113413400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:113407000-113413600	Strong transcription	Fetal Brain Female	brain
46	chr2:113407000-113415200	Strong transcription	A549	lung
47	chr2:113407000-113416800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:113407000-113417000	Weak transcription	Fetal Brain Male	brain
49	chr2:113407000-113420600	Strong transcription	Adipose Nuclei	Adipose
50	chr2:113407000-113423000	Strong transcription	NHDF-Ad	bronchial

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