Variant report

Variant	rs1337391
Chromosome Location	chr9:16611692-16611693
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10738439	1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.87[MKK][hapmap];0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs10962488	0.94[ASN][1000 genomes]
rs10962511	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs12000426	0.86[YRI][hapmap];0.94[ASN][1000 genomes]
rs1415473	0.94[ASN][1000 genomes]
rs1952346	0.82[JPT][hapmap]
rs2095657	0.83[YRI][hapmap]
rs28733737	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7030387	0.94[ASN][1000 genomes]
rs7049082	0.94[ASN][1000 genomes]
rs7856477	0.86[YRI][hapmap]
rs7872747	0.94[ASN][1000 genomes]
rs7872838	0.94[ASN][1000 genomes]
rs943744	0.88[ASN][1000 genomes]
rs943745	1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530934	chr9:16281246-16779432	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1032856	chr9:16465330-16773471	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv540073	chr9:16465330-16773471	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv524264	chr9:16596071-16611692	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv430000	chr9:16603483-16671045	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Heschl's gyrus morphology	25130324	GWAS catalog

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16599000-16612200	Weak transcription	Osteobl	bone
2	chr9:16599000-16612600	Weak transcription	HSMM	muscle
3	chr9:16602800-16612400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:16603200-16612600	Weak transcription	HUVEC	blood vessel
5	chr9:16606200-16613600	Weak transcription	HSMMtube	muscle
6	chr9:16606200-16615000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:16607000-16618400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:16608400-16618600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:16609400-16612200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:16609400-16613600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:16609600-16612600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr9:16609600-16618000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:16609600-16619800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr9:16610000-16612800	Weak transcription	Ovary	ovary
15	chr9:16610200-16614400	Enhancers	NHDF-Ad	bronchial
16	chr9:16610800-16612600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:16610800-16613000	Enhancers	Colon Smooth Muscle	Colon
18	chr9:16610800-16613600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:16611000-16613800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr9:16611200-16611800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:16611200-16614200	Enhancers	NHLF	lung
22	chr9:16611200-16615200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr9:16611200-16618000	Weak transcription	Fetal Stomach	stomach
24	chr9:16611400-16611800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr9:16611400-16611800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr9:16611400-16615600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr9:16611400-16626400	Weak transcription	Aorta	Aorta
28	chr9:16611600-16612200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:16611600-16614200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:16611600-16618800	Weak transcription	Rectal Smooth Muscle	rectum

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