Variant report

Variant	rs2034787
Chromosome Location	chr4:186843924-186843925
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10002339	0.81[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap]
rs10002348	0.87[ASN][1000 genomes]
rs10002615	0.82[ASN][1000 genomes]
rs10012858	0.92[ASN][1000 genomes]
rs10013071	0.85[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10021784	0.93[ASN][1000 genomes]
rs10022762	0.94[JPT][hapmap];0.95[YRI][hapmap];0.82[ASN][1000 genomes]
rs11132362	0.90[ASN][1000 genomes]
rs11729474	0.88[ASN][1000 genomes]
rs11733555	0.89[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.90[ASN][1000 genomes]
rs11735211	0.91[ASN][1000 genomes]
rs12641600	0.81[JPT][hapmap]
rs12650520	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1454745	0.97[ASN][1000 genomes]
rs1551435	0.81[JPT][hapmap]
rs1809174	0.95[ASN][1000 genomes]
rs2278938	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs2278939	0.81[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap]
rs2648117	0.83[ASW][hapmap]
rs28459616	0.95[ASN][1000 genomes]
rs28532657	0.82[ASN][1000 genomes]
rs28561493	0.81[ASN][1000 genomes]
rs28674702	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4241812	0.96[ASN][1000 genomes]
rs4637445	0.81[CHD][hapmap]
rs4862589	0.95[ASN][1000 genomes]
rs4862590	0.95[ASN][1000 genomes]
rs4862591	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4862592	0.96[ASN][1000 genomes]
rs4862595	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4862597	0.82[ASN][1000 genomes]
rs4862598	0.82[ASN][1000 genomes]
rs4862602	0.81[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.82[ASN][1000 genomes]
rs6552935	0.91[ASW][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs6552938	0.89[JPT][hapmap];0.90[YRI][hapmap]
rs6833156	0.85[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.82[ASN][1000 genomes]
rs6838311	0.90[ASN][1000 genomes]
rs6847341	0.85[ASN][1000 genomes]
rs6848267	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs724072	0.85[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.81[ASN][1000 genomes]
rs7656292	0.80[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap]
rs7672034	0.90[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap]
rs7672190	0.92[ASN][1000 genomes]
rs7693781	0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.92[TSI][hapmap]
rs9994907	0.83[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022661	chr4:186789827-187122464	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv537422	chr4:186789827-187122464	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv1032178	chr4:186836629-186909596	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2034787	SORBS2	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186838200-186847000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr4:186838600-186847000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:186842600-186844000	Flanking Active TSS	Fetal Heart	heart
4	chr4:186842600-186844200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:186843000-186844400	Enhancers	Ovary	ovary
6	chr4:186843000-186847000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:186843200-186847200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:186843200-186853400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:186843600-186846800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:186843600-186847000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:186843600-186847000	Weak transcription	Gastric	stomach
12	chr4:186843600-186847000	Weak transcription	Left Ventricle	heart
13	chr4:186843600-186847200	Weak transcription	Right Atrium	heart
14	chr4:186843600-186853400	Weak transcription	Spleen	Spleen
15	chr4:186843800-186844400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links