Variant report

Variant	rs17611937
Chromosome Location	chr7:27775894-27775895
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	chr7:27699948..27706867-chr7:27775418..27784557,21	K562	blood:
2	chr7:27773133..27776591-chr7:27778404..27780614,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229893	Chromatin interaction
ENSG00000106052	Chromatin interaction
ENSG00000106049	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11763499	0.93[EUR][1000 genomes]
rs11766320	0.92[EUR][1000 genomes]
rs17155666	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17155928	0.85[CHB][hapmap];0.81[CHD][hapmap]
rs17685046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2051829	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2237337	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2285930	0.84[CEU][hapmap];0.85[CHB][hapmap];0.81[CHD][hapmap]
rs2391486	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34369550	0.95[ASN][1000 genomes]
rs3944121	0.83[CHD][hapmap]
rs4722732	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4722733	0.96[ASN][1000 genomes]
rs4722739	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4722742	1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs55714615	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55738305	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56137979	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61538692	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62449631	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62454807	0.92[EUR][1000 genomes]
rs62454947	0.92[EUR][1000 genomes]
rs6462043	0.92[EUR][1000 genomes]
rs6950949	0.92[EUR][1000 genomes]
rs6957836	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6958125	0.92[EUR][1000 genomes]
rs6974060	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6974991	0.92[EUR][1000 genomes]
rs6978847	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs757964	0.95[ASN][1000 genomes]
rs7785305	0.94[ASN][1000 genomes]
rs7796790	0.92[ASN][1000 genomes]
rs7799957	0.80[CHB][hapmap]
rs7804317	0.94[ASN][1000 genomes]
rs7808062	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs960293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs960294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9638846	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9638847	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9639563	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs9639564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs17611937	PRR15	cis	parietal	SCAN
rs17611937	HOXA13	cis	parietal	SCAN
rs17611937	SNX10	cis	cerebellum	SCAN
rs17611937	CRHR2	cis	parietal	SCAN
rs17611937	TAX1BP1	cis	cerebellum	SCAN
rs17611937	TRIL	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27760000-27778800	Weak transcription	HSMMtube	muscle
2	chr7:27770000-27778600	Weak transcription	Right Atrium	heart
3	chr7:27772800-27778800	Enhancers	Fetal Intestine Small	intestine
4	chr7:27773000-27776000	Enhancers	HepG2	liver
5	chr7:27773600-27778600	Enhancers	Fetal Intestine Large	intestine
6	chr7:27774600-27776600	Weak transcription	K562	blood
7	chr7:27774600-27776800	Weak transcription	Stomach Mucosa	stomach
8	chr7:27774600-27779000	Weak transcription	Small Intestine	intestine
9	chr7:27774800-27778400	Weak transcription	HUVEC	blood vessel
10	chr7:27775200-27778200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:27775200-27778400	Weak transcription	Hela-S3	cervix
12	chr7:27775600-27778600	Weak transcription	A549	lung
13	chr7:27775800-27776800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:27775800-27777000	Weak transcription	Pancreas	Pancrea
15	chr7:27775800-27777600	Weak transcription	Liver	Liver
16	chr7:27775800-27777600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:27775800-27778000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:27775800-27778200	Weak transcription	Fetal Lung	lung
19	chr7:27775800-27778800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:27775800-27779200	Weak transcription	Gastric	stomach
21	chr7:27775800-27779200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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