Variant report

Variant	rs10257982
Chromosome Location	chr7:3334597-3334598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10224769	0.86[ASN][1000 genomes]
rs10228151	0.82[CHB][hapmap];0.82[CHD][hapmap]
rs10228723	0.90[ASN][1000 genomes]
rs10233166	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10238520	0.84[ASN][1000 genomes]
rs10243467	0.83[CEU][hapmap]
rs10250421	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs10250444	0.82[CHB][hapmap];0.86[CHD][hapmap]
rs10258501	0.85[CHB][hapmap];0.81[CHD][hapmap]
rs10260145	0.90[ASN][1000 genomes]
rs10261250	0.92[ASN][1000 genomes]
rs10261912	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10266047	0.86[CHB][hapmap]
rs10268249	0.86[ASN][1000 genomes]
rs10268837	0.83[CHB][hapmap]
rs10271803	0.88[CEU][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap]
rs10276190	0.90[ASN][1000 genomes]
rs10276933	0.81[CHB][hapmap]
rs10807838	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10951155	0.82[CHB][hapmap];0.89[CHD][hapmap]
rs10951159	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1112428	0.82[CHB][hapmap]
rs11974620	0.87[ASN][1000 genomes]
rs11983024	0.83[CHB][hapmap]
rs12056172	0.82[CHB][hapmap]
rs12234397	0.82[CHD][hapmap]
rs12537113	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12537528	0.84[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.85[YRI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12537549	0.88[ASN][1000 genomes]
rs12540305	0.86[ASN][1000 genomes]
rs12700789	0.82[CHB][hapmap]
rs13224926	0.81[EUR][1000 genomes]
rs13230698	0.88[ASN][1000 genomes]
rs1357311	0.88[CEU][hapmap]
rs1403158	0.86[CHB][hapmap]
rs1525556	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1525557	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17133257	0.86[CHD][hapmap]
rs2340848	0.88[CEU][hapmap];0.83[GIH][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap]
rs34608458	0.90[ASN][1000 genomes]
rs34735349	0.90[ASN][1000 genomes]
rs4131987	0.86[CHB][hapmap]
rs4255031	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4295560	0.90[ASN][1000 genomes]
rs4316064	0.82[CHB][hapmap];0.89[CHD][hapmap];0.83[MEX][hapmap]
rs4320450	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4327753	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4336505	0.89[ASN][1000 genomes]
rs4349886	0.88[ASN][1000 genomes]
rs4358698	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4443553	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4495320	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4499989	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4506106	0.84[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4521670	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4544975	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs4588749	0.89[ASN][1000 genomes]
rs4607498	0.89[CHD][hapmap]
rs4719883	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4719894	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs4722654	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4722655	0.89[ASN][1000 genomes]
rs4722663	0.82[CHB][hapmap];0.86[CHD][hapmap]
rs4722673	0.90[ASN][1000 genomes]
rs4722674	0.90[ASN][1000 genomes]
rs4722693	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4722696	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4722708	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4722709	0.81[EUR][1000 genomes]
rs6461983	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6461993	0.90[ASN][1000 genomes]
rs6461994	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6462030	0.86[CHB][hapmap]
rs6462094	0.91[CEU][hapmap]
rs67586312	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6958390	0.90[ASN][1000 genomes]
rs6959232	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6959702	0.90[ASN][1000 genomes]
rs6962796	0.84[CEU][hapmap];0.89[GIH][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap]
rs6965684	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6966619	0.82[CHB][hapmap];0.89[CHD][hapmap]
rs6980323	0.90[ASN][1000 genomes]
rs7785994	0.82[CHB][hapmap];0.89[CHD][hapmap]
rs7789887	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7791820	0.90[ASN][1000 genomes]
rs7794279	0.90[ASN][1000 genomes]
rs7797018	0.86[CEU][hapmap];0.84[CHB][hapmap];0.83[YRI][hapmap];0.81[EUR][1000 genomes]
rs7798418	0.80[EUR][1000 genomes]
rs7798672	0.89[ASN][1000 genomes]
rs7802250	0.86[CHB][hapmap]
rs7803004	0.82[CHB][hapmap];0.82[CHD][hapmap]
rs7803993	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7811244	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7811286	0.83[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9969270	0.82[CHB][hapmap]
rs9986894	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9986896	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464264	chr7:3194156-3349625	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv605880	chr7:3194156-3349625	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1023127	chr7:3216344-3466223	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1018173	chr7:3258989-3879848	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv538660	chr7:3258989-3879848	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2758100	chr7:3286625-3560229	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2759500	chr7:3286625-3560229	Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1016555	chr7:3298478-3872512	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv538661	chr7:3298478-3872512	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1019515	chr7:3300048-3479972	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv887324	chr7:3308195-3400105	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv1803572	chr7:3327994-3341589	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10257982	C7orf50	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3333400-3334800	Enhancers	Duodenum Mucosa	Duodenum
2	chr7:3333600-3334800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr7:3333600-3334800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:3333600-3334800	Enhancers	Fetal Intestine Small	intestine
5	chr7:3334200-3334600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr7:3334200-3334800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:3334200-3334800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:3334200-3334800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:3334200-3334800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:3334200-3334800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
11	chr7:3334200-3334800	Enhancers	Fetal Intestine Large	intestine
12	chr7:3334200-3334800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr7:3334400-3334600	Enhancers	Fetal Thymus	thymus
14	chr7:3334400-3334800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:3334400-3334800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
16	chr7:3334400-3334800	Enhancers	Pancreas	Pancrea
17	chr7:3334400-3334800	Enhancers	Stomach Mucosa	stomach

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