Variant report

Variant	rs17630430
Chromosome Location	chr3:115766285-115766286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11425708	0.82[ASN][1000 genomes]
rs11918080	0.82[ASN][1000 genomes]
rs12695319	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13075363	0.85[CHD][hapmap]
rs13315058	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1344131	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17697994	0.86[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1920360	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1920379	0.86[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2091669	0.82[ASN][1000 genomes]
rs2222827	0.83[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs28413947	0.80[AMR][1000 genomes]
rs2864060	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs28735793	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs33956431	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34523792	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34543919	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34705863	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34844901	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34930794	0.80[ASN][1000 genomes]
rs35080450	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35470268	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35780065	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35914238	0.82[ASN][1000 genomes]
rs4263291	0.80[ASN][1000 genomes]
rs4401357	0.82[GIH][hapmap];0.81[MEX][hapmap]
rs4831121	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4831211	0.85[CHD][hapmap]
rs4831225	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4831226	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4831227	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4831228	0.82[ASN][1000 genomes]
rs4831229	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4831230	0.80[ASN][1000 genomes]
rs5004406	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs56121547	0.80[ASN][1000 genomes]
rs62269168	0.80[ASN][1000 genomes]
rs62269170	0.80[ASN][1000 genomes]
rs62271281	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66490447	0.82[ASN][1000 genomes]
rs6765355	0.82[ASN][1000 genomes]
rs6772113	0.81[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs73139202	0.82[ASN][1000 genomes]
rs7632265	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7637650	0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9289042	0.84[ASN][1000 genomes]
rs9816425	0.82[ASN][1000 genomes]
rs9818948	0.82[AMR][1000 genomes]
rs9821040	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9821865	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9822568	0.82[ASN][1000 genomes]
rs9824605	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9836963	0.82[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.92[ASN][1000 genomes]
rs9837276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9839078	0.86[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9851643	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9854345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9854711	0.82[ASN][1000 genomes]
rs9855097	0.82[ASN][1000 genomes]
rs9857520	0.86[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9858539	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9866484	0.82[ASN][1000 genomes]
rs9868706	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9873576	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9877662	0.82[ASN][1000 genomes]
rs9878289	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9878559	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931948	chr3:114884574-115802562	Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2760762	chr3:115476222-115807650	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv829685	chr3:115643521-115812913	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1012260	chr3:115680931-115935968	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2756413	chr3:115721898-115908480	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1001538	chr3:115746561-115791116	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv2751975	chr3:115766285-115902901	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115753800-115767400	Weak transcription	Fetal Lung	lung
2	chr3:115754000-115770400	Weak transcription	Brain Substantia Nigra	brain
3	chr3:115758000-115772800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:115758800-115769800	Weak transcription	NHEK	skin
5	chr3:115759000-115778200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:115762000-115769000	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:115765200-115766400	Enhancers	Brain Germinal Matrix	brain
8	chr3:115765400-115768000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr3:115765800-115768000	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:115765800-115768800	Weak transcription	K562	blood
11	chr3:115765800-115769600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:115765800-115770000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:115765800-115770200	Weak transcription	Brain Anterior Caudate	brain
14	chr3:115765800-115770400	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:115766000-115774000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr3:115766000-115775800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr3:115766200-115770000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:115766200-115770000	Weak transcription	Brain Angular Gyrus	brain
19	chr3:115766200-115770200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:115766200-115794200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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