Variant report

Variant	rs17098247
Chromosome Location	chr14:32347353-32347354
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10132352	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133717	1.00[ASN][1000 genomes]
rs10133942	1.00[ASN][1000 genomes]
rs11156708	1.00[ASN][1000 genomes]
rs11156720	1.00[ASN][1000 genomes]
rs11621039	1.00[ASN][1000 genomes]
rs11621248	1.00[ASN][1000 genomes]
rs11621390	1.00[ASN][1000 genomes]
rs11621521	1.00[ASN][1000 genomes]
rs11621686	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622367	1.00[ASN][1000 genomes]
rs11622373	1.00[ASN][1000 genomes]
rs11624141	1.00[ASN][1000 genomes]
rs11624768	1.00[ASN][1000 genomes]
rs11624788	1.00[ASN][1000 genomes]
rs11626536	1.00[ASN][1000 genomes]
rs11627538	1.00[ASN][1000 genomes]
rs11628274	1.00[ASN][1000 genomes]
rs11848123	1.00[ASN][1000 genomes]
rs11848353	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848392	1.00[ASN][1000 genomes]
rs12185052	1.00[ASN][1000 genomes]
rs17098218	0.83[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17098251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17379796	0.91[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17379852	0.91[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17379887	0.91[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17381661	1.00[ASN][1000 genomes]
rs17464234	0.90[EUR][1000 genomes]
rs17464629	0.91[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17464712	0.91[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17464726	0.91[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1953269	0.91[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1953274	1.00[ASN][1000 genomes]
rs28494034	1.00[ASN][1000 genomes]
rs34753663	1.00[ASN][1000 genomes]
rs3993	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4525402	1.00[ASN][1000 genomes]
rs4525403	1.00[ASN][1000 genomes]
rs55764900	0.87[EUR][1000 genomes]
rs55835620	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58503445	1.00[ASN][1000 genomes]
rs58675313	1.00[ASN][1000 genomes]
rs59776229	1.00[ASN][1000 genomes]
rs6571472	0.82[EUR][1000 genomes]
rs6571473	0.82[EUR][1000 genomes]
rs7147907	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148175	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148196	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148222	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148561	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153389	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153738	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253276	1.00[ASN][1000 genomes]
rs73255125	1.00[ASN][1000 genomes]
rs73255184	1.00[ASN][1000 genomes]
rs73255188	1.00[ASN][1000 genomes]
rs73259069	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259070	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74041532	1.00[ASN][1000 genomes]
rs74041533	1.00[ASN][1000 genomes]
rs8004536	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004792	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005547	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006327	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008468	0.87[EUR][1000 genomes]
rs8009002	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009030	0.82[EUR][1000 genomes]
rs8009753	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016264	0.91[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016527	0.83[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020792	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970488	1.00[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	nsv564180	chr14:31958566-32368934	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv564181	chr14:31958761-32363980	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv901593	chr14:32282564-32350371	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv526200	chr14:32308511-32454372	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32345800-32350200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:32346600-32347600	Weak transcription	Left Ventricle	heart
3	chr14:32346800-32347600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr14:32346800-32349800	Weak transcription	HSMMtube	muscle
5	chr14:32346800-32351400	Weak transcription	Pancreas	Pancrea
6	chr14:32346800-32351400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr14:32347000-32347400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:32347000-32347400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr14:32347000-32347400	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr14:32347000-32347600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr14:32347000-32347600	Weak transcription	Fetal Muscle Leg	muscle
12	chr14:32347000-32347600	Weak transcription	Psoas Muscle	Psoas
13	chr14:32347000-32348200	Enhancers	HUVEC	blood vessel
14	chr14:32347000-32349400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:32347000-32350200	Weak transcription	Ovary	ovary
16	chr14:32347000-32350200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:32347000-32351400	Weak transcription	Fetal Lung	lung
18	chr14:32347000-32361400	Weak transcription	Right Atrium	heart
19	chr14:32347200-32348600	Enhancers	Adipose Nuclei	Adipose
20	chr14:32347200-32349000	Weak transcription	NHDF-Ad	bronchial
21	chr14:32347200-32349600	Weak transcription	HSMM	muscle
22	chr14:32347200-32349600	Weak transcription	Osteobl	bone
23	chr14:32347200-32349800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:32347200-32349800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:32347200-32349800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:32347200-32349800	Weak transcription	NHLF	lung
27	chr14:32347200-32350000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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