Variant report

Variant	rs12466249
Chromosome Location	chr2:37245670-37245671
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10048628	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10084315	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171853	1.00[ASN][1000 genomes]
rs10174832	1.00[ASN][1000 genomes]
rs10176233	0.84[EUR][1000 genomes]
rs10177166	0.81[AFR][1000 genomes]
rs10177789	1.00[ASN][1000 genomes]
rs10177905	1.00[ASN][1000 genomes]
rs10186611	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202693	0.89[EUR][1000 genomes]
rs10211667	0.84[EUR][1000 genomes]
rs12464180	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465097	0.84[EUR][1000 genomes]
rs12469391	0.84[EUR][1000 genomes]
rs12470942	0.84[EUR][1000 genomes]
rs12474977	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12475211	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13382481	1.00[ASN][1000 genomes]
rs13382546	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385947	1.00[ASN][1000 genomes]
rs13394344	1.00[ASN][1000 genomes]
rs13398178	0.84[EUR][1000 genomes]
rs13398577	1.00[ASN][1000 genomes]
rs13398883	1.00[ASN][1000 genomes]
rs13399537	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs13411242	1.00[ASN][1000 genomes]
rs13419229	1.00[ASN][1000 genomes]
rs13424255	0.84[EUR][1000 genomes]
rs13425123	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs13425169	1.00[CEU][hapmap]
rs13426400	0.84[EUR][1000 genomes]
rs13426552	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13429524	1.00[ASN][1000 genomes]
rs13430716	1.00[CEU][hapmap]
rs17332720	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2464700	1.00[ASN][1000 genomes]
rs4648185	1.00[CEU][hapmap]
rs4648233	1.00[CEU][hapmap]
rs56808546	1.00[ASN][1000 genomes]
rs9309000	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9631047	0.84[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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv873879	chr2:37200033-37299145	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv581471	chr2:37213186-37257386	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv581472	chr2:37235324-37291320	Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1820206	chr2:37236821-37277811	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37195200-37252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:37195400-37248600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:37209000-37290200	Weak transcription	Small Intestine	intestine
4	chr2:37214200-37248400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:37219200-37256400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:37223400-37282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:37223400-37300400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr2:37224000-37256000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:37224000-37270600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:37224600-37248200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:37226800-37256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:37227800-37246000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:37228000-37247200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:37228600-37267000	Weak transcription	Stomach Mucosa	stomach
16	chr2:37229800-37251200	Weak transcription	K562	blood
17	chr2:37230400-37248400	Weak transcription	Right Ventricle	heart
18	chr2:37230800-37248200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:37232600-37248200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:37232800-37248400	Weak transcription	Psoas Muscle	Psoas
21	chr2:37232800-37251000	Weak transcription	Brain Substantia Nigra	brain
22	chr2:37233000-37253000	Weak transcription	NHEK	skin
23	chr2:37235000-37248400	Weak transcription	Aorta	Aorta
24	chr2:37237600-37255400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:37238000-37248200	Strong transcription	Adipose Nuclei	Adipose
26	chr2:37238200-37247600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:37238200-37255200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:37238400-37247400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:37238400-37248400	Weak transcription	Right Atrium	heart
30	chr2:37238400-37260800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:37238800-37251800	Strong transcription	Placenta	Placenta
32	chr2:37239200-37247600	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr2:37239200-37248000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:37239600-37246200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr2:37239800-37247200	Strong transcription	Fetal Lung	lung
36	chr2:37240200-37260800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:37240400-37246600	Weak transcription	HSMMtube	muscle
38	chr2:37240400-37254200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:37240400-37304800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:37240600-37246400	Weak transcription	HSMM	muscle
41	chr2:37240600-37249800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr2:37240600-37306000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:37240800-37281800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:37240800-37306400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr2:37240800-37307000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:37241000-37272600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr2:37241200-37246200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:37241200-37247000	Weak transcription	GM12878-XiMat	blood
49	chr2:37241200-37247400	Weak transcription	NHLF	lung
50	chr2:37241200-37247800	Weak transcription	Esophagus	oesophagus

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