Variant report

Variant	rs2075671
Chromosome Location	chr7:100345106-100345107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100336156..100338514-chr7:100343827..100346025,2	K562	blood:
2	chr7:100164565..100167457-chr7:100344225..100346169,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10247855	1.00[LWK][hapmap]
rs10487157	0.89[MEX][hapmap]
rs10953301	0.83[CHB][hapmap]
rs11520986	0.83[CHB][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap]
rs11764045	0.89[MEX][hapmap]
rs11974395	0.83[CHB][hapmap];0.91[GIH][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap]
rs11979818	0.83[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap]
rs11983334	0.83[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap]
rs12532878	0.89[MEX][hapmap]
rs1617640	0.90[JPT][hapmap]
rs17228602	1.00[LWK][hapmap]
rs17880573	1.00[ASW][hapmap]
rs2075674	0.94[MEX][hapmap]
rs2231172	0.94[MEX][hapmap]
rs2272572	0.83[CHB][hapmap];0.90[GIH][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap]
rs2293769	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3891039	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4727459	0.83[CHB][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap]
rs4729602	0.83[CHB][hapmap];0.91[GIH][hapmap];0.89[MEX][hapmap]
rs4729606	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap]
rs4729607	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs6969584	0.89[MEX][hapmap]
rs6969697	0.89[MEX][hapmap]
rs7812123	0.89[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv607933	chr7:100240191-100365613	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv8184	chr7:100240737-100345945	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	esv1804951	chr7:100275135-100374093	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888796	chr7:100313420-100423365	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv5869	chr7:100325725-100347340	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Other erythrocyte phenotypes	19862010	GWAS catalog

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2075671	MOSPD3	cis	Whole Blood	GTEx
rs2075671	LHFPL3	cis	cerebellum	SCAN
rs2075671	BRI3	cis	cerebellum	SCAN
rs2075671	PERQ1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100343200-100345600	Weak transcription	Brain Hippocampus Middle	brain
2	chr7:100343200-100348200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:100343200-100356000	Weak transcription	Right Atrium	heart

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