Variant report

Variant	rs2214626
Chromosome Location	chr7:16315652-16315653
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10264415	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1295129	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1527208	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1527209	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1527219	0.82[CEU][hapmap]
rs1527220	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs1527221	0.82[EUR][1000 genomes]
rs17361889	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17458603	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17672493	0.80[EUR][1000 genomes]
rs1918259	0.89[CEU][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap];0.82[EUR][1000 genomes]
rs1918260	0.81[EUR][1000 genomes]
rs1918266	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1918267	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4721485	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56005627	0.88[EUR][1000 genomes]
rs56024841	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56161298	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56279207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61282805	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62440376	0.80[EUR][1000 genomes]
rs62440394	0.86[EUR][1000 genomes]
rs62440396	0.84[AMR][1000 genomes]
rs62440406	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62440407	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62440450	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62440451	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6954901	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs6956986	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6961874	0.82[EUR][1000 genomes]
rs6968510	0.96[ASN][1000 genomes]
rs6974124	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7778438	0.82[EUR][1000 genomes]
rs7782485	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs987932	0.81[CEU][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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948950	chr7:16168925-16395434	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757214	chr7:16236162-16334228	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv34298	chr7:16251754-16324185	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1022388	chr7:16251992-16431864	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1022814	chr7:16262300-16339988	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2214626	SOSTDC1	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16308800-16318000	Weak transcription	Left Ventricle	heart
2	chr7:16311400-16318000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:16311600-16319000	Weak transcription	Aorta	Aorta
4	chr7:16312200-16315800	Weak transcription	Fetal Heart	heart
5	chr7:16312400-16318000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:16312400-16332800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:16313000-16318000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:16313400-16319000	Weak transcription	Ovary	ovary
9	chr7:16313600-16317400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:16313600-16318800	Weak transcription	Fetal Stomach	stomach
11	chr7:16313600-16319000	Weak transcription	Pancreas	Pancrea
12	chr7:16313600-16348200	Weak transcription	Gastric	stomach
13	chr7:16315400-16316000	Weak transcription	K562	blood

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