Variant report

Variant	rs2540923
Chromosome Location	chr2:37094945-37094946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1014584	1.00[CHD][hapmap]
rs10166375	1.00[ASN][1000 genomes]
rs10167453	1.00[CHD][hapmap]
rs10174832	1.00[CEU][hapmap]
rs10177905	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs10187519	1.00[ASN][1000 genomes]
rs10187755	1.00[ASN][1000 genomes]
rs10201668	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10209892	1.00[ASN][1000 genomes]
rs10210881	1.00[ASN][1000 genomes]
rs12464180	1.00[CHD][hapmap]
rs13385893	1.00[ASN][1000 genomes]
rs13397869	1.00[ASN][1000 genomes]
rs13398577	1.00[CEU][hapmap]
rs13408934	1.00[ASN][1000 genomes]
rs13422660	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs13427183	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13430716	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs17404648	1.00[CHD][hapmap]
rs2216106	0.82[ASW][hapmap]
rs2247010	1.00[CHD][hapmap]
rs2372811	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2540994	1.00[MEX][hapmap]
rs2691109	0.82[ASW][hapmap]
rs2691111	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2717522	0.82[ASW][hapmap]
rs28386843	1.00[ASN][1000 genomes]
rs28593131	1.00[ASN][1000 genomes]
rs28701005	1.00[ASN][1000 genomes]
rs4670171	1.00[CHD][hapmap]
rs4670606	1.00[MEX][hapmap]
rs6716696	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs6716891	1.00[CHD][hapmap]
rs7424163	1.00[MEX][hapmap]
rs7571203	1.00[ASN][1000 genomes]
rs998321	0.82[ASW][hapmap]

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	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	nsv1011014	chr2:37027819-37095895	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv999465	chr2:37029347-37095895	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr2:37062800-37095600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:37065800-37104200	Weak transcription	Right Ventricle	heart
3	chr2:37067400-37103200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:37067600-37103000	Weak transcription	Small Intestine	intestine
5	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
6	chr2:37068400-37095600	Weak transcription	Fetal Kidney	kidney
7	chr2:37073800-37098400	Weak transcription	Colonic Mucosa	Colon
8	chr2:37075600-37101600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:37075600-37139200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:37075800-37106600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:37076800-37111600	Weak transcription	Brain Germinal Matrix	brain
12	chr2:37077000-37102400	Weak transcription	Brain Angular Gyrus	brain
13	chr2:37077000-37102400	Weak transcription	Gastric	stomach
14	chr2:37077000-37116200	Weak transcription	Hela-S3	cervix
15	chr2:37077000-37116200	Weak transcription	NHLF	lung
16	chr2:37077200-37102400	Weak transcription	Aorta	Aorta
17	chr2:37077200-37102400	Weak transcription	Pancreas	Pancrea
18	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:37077400-37136600	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:37078000-37098600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:37078200-37118400	Weak transcription	Fetal Brain Male	brain
22	chr2:37079200-37111000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:37080600-37105800	Strong transcription	Primary B cells from cord blood	blood
24	chr2:37081600-37100200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:37082200-37115600	Weak transcription	Stomach Mucosa	stomach
26	chr2:37083400-37097000	Strong transcription	Primary T cells from cord blood	blood
27	chr2:37083800-37108000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:37084200-37103200	Weak transcription	HSMMtube	muscle
29	chr2:37084400-37099000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:37084400-37102400	Weak transcription	Spleen	Spleen
31	chr2:37085200-37098400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:37085800-37102000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:37086000-37096400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:37086200-37100400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:37086400-37099400	Weak transcription	Ovary	ovary
36	chr2:37086400-37099400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:37086400-37103600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:37087000-37095800	Weak transcription	A549	lung
39	chr2:37087000-37096200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:37088000-37101200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:37088000-37101400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:37088400-37095400	Weak transcription	HepG2	liver
44	chr2:37088600-37096400	Weak transcription	HUVEC	blood vessel
45	chr2:37089000-37101400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:37090600-37105600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr2:37090800-37097200	Strong transcription	Primary hematopoietic stem cells	blood
48	chr2:37090800-37105200	Strong transcription	Adipose Nuclei	Adipose
49	chr2:37090800-37114200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr2:37091000-37105800	Strong transcription	Primary T helper cells fromperipheralblood	blood

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