Variant report

Variant	rs17494589
Chromosome Location	chr7:136564376-136564377
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:136563626..136566451-chr7:136583997..136585674,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10488595	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10488596	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10488597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs10954565	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10954566	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11763464	1.00[ASN][1000 genomes]
rs11771119	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532627	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532672	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533282	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12534748	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12536964	1.00[ASN][1000 genomes]
rs12537069	1.00[ASN][1000 genomes]
rs12537753	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537831	0.90[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538445	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12670040	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13222744	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223210	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13223738	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13230245	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235508	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235822	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424574	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap]
rs17409631	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17409769	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17487790	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17494540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34166421	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34617713	1.00[ASN][1000 genomes]
rs34653588	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35641096	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35784011	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36007709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485215	1.00[ASN][1000 genomes]
rs62485218	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485222	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485223	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71541328	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71541330	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785651	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7811987	1.00[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17494589	PTN	cis	parietal	SCAN
rs17494589	CREB3L2	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136557000-136567800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:136558000-136609200	Weak transcription	Left Ventricle	heart
3	chr7:136560600-136566800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:136561200-136569000	Enhancers	Fetal Heart	heart
5	chr7:136561400-136565000	Enhancers	Rectal Smooth Muscle	rectum
6	chr7:136561800-136564800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:136562200-136565200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:136562400-136565000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:136562600-136564400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:136562600-136565000	Enhancers	Colon Smooth Muscle	Colon
11	chr7:136563200-136567000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:136563400-136564400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:136563600-136566800	Weak transcription	NHLF	lung
14	chr7:136564000-136565000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:136564000-136565000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:136564000-136565600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:136564200-136564600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:136564200-136564800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:136564200-136565200	Enhancers	HUES6 Cell Line	embryonic stem cell

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