Variant report

Variant	rs3771095
Chromosome Location	chr2:188211112-188211113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11887657	0.87[EUR][1000 genomes]
rs13432953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1398062	1.00[EUR][1000 genomes]
rs1511878	0.81[ASN][1000 genomes]
rs1706287	0.89[CEU][hapmap];0.88[GIH][hapmap]
rs17366895	1.00[CEU][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17705816	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17705846	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28866036	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3213738	0.90[EUR][1000 genomes]
rs3771074	0.85[CHD][hapmap]
rs3771077	0.87[EUR][1000 genomes]
rs3771083	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3771088	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3815524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4482438	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58059768	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58601170	0.85[ASN][1000 genomes]
rs59646699	0.85[ASN][1000 genomes]
rs67285489	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6729250	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6753578	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs67937232	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67965661	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs696574	0.89[CEU][hapmap]
rs698578	1.00[CEU][hapmap]
rs72895223	0.86[AFR][1000 genomes]
rs72895240	0.86[AFR][1000 genomes]
rs72898690	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72899252	0.86[AFR][1000 genomes]
rs72899256	0.86[AFR][1000 genomes]
rs72899265	0.86[AFR][1000 genomes]
rs72900656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900687	0.85[EUR][1000 genomes]
rs72902452	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72902489	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72904948	0.86[AFR][1000 genomes]
rs72904991	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs72910645	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7584162	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7588800	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs840606	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs840617	0.80[CEU][hapmap];0.81[GIH][hapmap]
rs858745	0.89[CEU][hapmap];0.84[GIH][hapmap];0.81[TSI][hapmap]
rs858750	0.89[CEU][hapmap];0.85[GIH][hapmap];0.81[TSI][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	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533935	chr2:188089148-188284766	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv834487	chr2:188182556-188353363	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3771095	HIBCH	cis	parietal	SCAN
rs3771095	TMEM194B	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188203200-188218200	Weak transcription	Aorta	Aorta
2	chr2:188203800-188222400	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:188204000-188253600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:188204600-188213400	Weak transcription	Fetal Lung	lung
5	chr2:188206800-188213800	Strong transcription	HUVEC	blood vessel
6	chr2:188208800-188250400	Weak transcription	Primary T cells from cord blood	blood
7	chr2:188209000-188212000	Strong transcription	Primary hematopoietic stem cells	blood
8	chr2:188209000-188229600	Weak transcription	Fetal Thymus	thymus
9	chr2:188209200-188222600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:188209400-188213800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:188209600-188221400	Weak transcription	Fetal Kidney	kidney
12	chr2:188209800-188212200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:188209800-188233400	Weak transcription	Right Ventricle	heart
14	chr2:188210000-188212600	Weak transcription	Psoas Muscle	Psoas
15	chr2:188210200-188211400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:188210200-188212200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:188210200-188212200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:188210600-188223200	Weak transcription	Left Ventricle	heart
19	chr2:188210800-188215400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:188210800-188248000	Weak transcription	HSMMtube	muscle
21	chr2:188211000-188213200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:188211000-188213800	Weak transcription	Adipose Nuclei	Adipose
23	chr2:188211000-188214000	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links