Variant report

Variant	rs12002953
Chromosome Location	chr9:16745743-16745744
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10733318	0.98[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10733319	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10738455	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10738456	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10738458	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10738459	0.84[ASN][1000 genomes]
rs10756802	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10756803	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10756804	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10756805	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10756806	0.94[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10756808	0.84[ASN][1000 genomes]
rs10756809	0.84[ASN][1000 genomes]
rs10810605	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10810609	0.80[ASN][1000 genomes]
rs10810612	0.84[ASN][1000 genomes]
rs10962563	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10962564	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10962565	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10962566	0.96[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11999316	0.88[ASN][1000 genomes]
rs12004872	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13285058	0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13299069	0.84[ASN][1000 genomes]
rs13300274	0.84[ASN][1000 genomes]
rs1330294	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1330296	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1330297	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1330298	0.90[ASN][1000 genomes]
rs16934964	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1928849	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1970284	0.82[ASN][1000 genomes]
rs1970285	0.82[ASN][1000 genomes]
rs1980935	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1980936	0.90[ASN][1000 genomes]
rs1980937	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2039187	0.86[ASN][1000 genomes]
rs2039188	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2094781	0.84[ASN][1000 genomes]
rs2225326	0.94[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2275255	1.00[EUR][1000 genomes]
rs28529611	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4961750	0.90[ASN][1000 genomes]
rs4961751	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4961752	0.94[AFR][1000 genomes]
rs4961753	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs5015536	0.84[ASN][1000 genomes]
rs5015537	0.84[ASN][1000 genomes]
rs5015539	0.84[ASN][1000 genomes]
rs5015540	0.84[ASN][1000 genomes]
rs5016911	0.90[ASN][1000 genomes]
rs5016917	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs62541547	0.85[AFR][1000 genomes]
rs6475073	0.93[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6475074	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6475075	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6475076	0.90[ASN][1000 genomes]
rs6475077	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6475078	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7021735	0.86[ASN][1000 genomes]
rs7028827	0.88[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7029771	1.00[EUR][1000 genomes]
rs7034961	0.98[AFR][1000 genomes]
rs7035033	0.98[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7035178	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7035732	0.82[ASN][1000 genomes]
rs7035869	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7038545	0.98[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7043797	0.86[ASN][1000 genomes]
rs7047213	0.96[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7470506	0.90[ASN][1000 genomes]
rs7851438	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7853541	0.93[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7853573	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7853718	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7853764	0.95[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7853897	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7857685	0.86[ASN][1000 genomes]
rs7857721	0.86[ASN][1000 genomes]
rs7857929	0.82[ASN][1000 genomes]
rs7858709	0.82[ASN][1000 genomes]
rs7858712	0.82[ASN][1000 genomes]
rs7858914	0.82[ASN][1000 genomes]
rs7866999	0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7867602	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7868192	0.84[ASN][1000 genomes]
rs7868606	0.84[ASN][1000 genomes]
rs7868731	0.84[ASN][1000 genomes]
rs7868797	0.84[ASN][1000 genomes]
rs7869097	1.00[EUR][1000 genomes]
rs7869115	0.91[AFR][1000 genomes]
rs9987413	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9987475	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9987476	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9987698	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9987701	0.94[AFR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv2758627	chr9:16641966-16809203	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv2759673	chr9:16641966-16809203	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription 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	10 gene(s)	inside rSNPs	diseases
8	nsv892649	chr9:16677221-16761597	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv892650	chr9:16696187-16950860	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16730200-16748200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:16733800-16749200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr9:16735000-16749200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:16738600-16749200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr9:16742600-16746000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:16743600-16749400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:16744400-16745800	Enhancers	Fetal Lung	lung
8	chr9:16744400-16746200	Enhancers	Fetal Stomach	stomach
9	chr9:16745000-16745800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr9:16745200-16745800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr9:16745200-16745800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr9:16745200-16745800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr9:16745200-16747200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:16745400-16745800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr9:16745400-16745800	Active TSS	Stomach Smooth Muscle	stomach
16	chr9:16745400-16748600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:16745400-16752400	Weak transcription	Colon Smooth Muscle	Colon
18	chr9:16745400-16758000	Weak transcription	Ovary	ovary
19	chr9:16745400-16774800	Weak transcription	Osteobl	bone
20	chr9:16745600-16750600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:16745600-16752200	Weak transcription	NHDF-Ad	bronchial
22	chr9:16745600-16766200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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