Variant report

Variant	rs200943
Chromosome Location	chr10:38148730-38148731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:38123782..38128970-chr10:38145175..38149505,4	MCF-7	breast:
2	chr10:38044279..38047171-chr10:38147143..38150135,2	MCF-7	breast:
3	chr10:38144844..38146418-chr10:38148351..38151318,2	K562	blood:

Variant related genes	Relation type
ENSG00000198105	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1022698	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10764147	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10827835	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10827836	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11011343	0.83[ASN][1000 genomes]
rs11011351	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11011407	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1208559	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1208592	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1208681	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1208684	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1208689	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1208708	0.88[ASN][1000 genomes]
rs1208767	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12774732	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13503	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1735577	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1779017	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1814077	0.84[ASN][1000 genomes]
rs200903	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs200910	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs200924	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs200935	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs200936	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs200937	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs200939	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2144849	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2180408	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2257186	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2472150	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2504130	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2504155	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2505232	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs289648	0.81[ASN][1000 genomes]
rs289649	0.84[ASN][1000 genomes]
rs3851078	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4934906	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4934907	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4934912	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4934916	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs496627	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs527163	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs619739	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs623149	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs623454	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs626519	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs629577	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs639479	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs640774	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs645064	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs662945	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7069702	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7099777	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs719569	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9417256	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs200943	HSD17B7///HSD17B7P2///LOC730412	Cis_1M	lymphoblastoid	RTeQTL
rs200943	ZNF37A///ZNF37B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38145400-38149400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr10:38147800-38149400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr10:38147800-38149400	Enhancers	Rectal Smooth Muscle	rectum
4	chr10:38147800-38149600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:38147800-38149600	Weak transcription	Osteobl	bone
6	chr10:38148000-38149600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:38148200-38149200	Weak transcription	HepG2	liver
8	chr10:38148200-38149400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:38148200-38149600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:38148400-38148800	Weak transcription	Colon Smooth Muscle	Colon
11	chr10:38148400-38149400	Weak transcription	Stomach Smooth Muscle	stomach

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