Variant report

Variant	rs11782345
Chromosome Location	chr8:62528414-62528415
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10957196	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11775077	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs11786863	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11984541	0.84[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs11990408	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs11997478	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12675597	0.84[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs12679293	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1574196	0.84[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs16918887	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs17546883	0.95[EUR][1000 genomes]
rs2350585	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs2882460	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3765162	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55720422	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60403482	0.83[ASN][1000 genomes]
rs61430496	0.94[EUR][1000 genomes]
rs6471962	0.83[ASN][1000 genomes]
rs6471964	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6471969	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66516703	0.83[ASN][1000 genomes]
rs66795450	0.83[ASN][1000 genomes]
rs7015761	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs7016408	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7017995	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72659015	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72659032	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72659034	0.96[EUR][1000 genomes]
rs7812552	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs7816208	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7822250	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7822988	0.94[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7825861	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7834148	0.84[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs7834478	0.94[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7836217	0.82[ASN][1000 genomes]
rs7836999	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs7841144	0.95[CEU][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
2	chr8:62489200-62528800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:62495400-62529000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:62504800-62536200	Weak transcription	HUVEC	blood vessel
5	chr8:62506200-62528800	Weak transcription	HepG2	liver
6	chr8:62506600-62541400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:62508800-62549800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:62511400-62567800	Weak transcription	Stomach Mucosa	stomach
9	chr8:62513000-62550200	Weak transcription	Brain Substantia Nigra	brain
10	chr8:62513000-62594800	Weak transcription	Brain Anterior Caudate	brain
11	chr8:62513600-62533000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:62515200-62538400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:62518000-62528800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:62518000-62529200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:62518000-62529400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:62518000-62544000	Weak transcription	Fetal Lung	lung
17	chr8:62518000-62597600	Weak transcription	Small Intestine	intestine
18	chr8:62518400-62528800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:62518600-62536200	Weak transcription	Hela-S3	cervix
20	chr8:62518800-62529200	Weak transcription	HSMM	muscle
21	chr8:62518800-62531800	Weak transcription	HSMMtube	muscle
22	chr8:62518800-62533200	Weak transcription	Fetal Heart	heart
23	chr8:62519000-62541000	Weak transcription	Primary T cells from cord blood	blood
24	chr8:62519600-62549000	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:62520200-62541000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:62521800-62529200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:62521800-62529200	Weak transcription	Aorta	Aorta
28	chr8:62522000-62528800	Weak transcription	Lung	lung
29	chr8:62522000-62529000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:62522000-62529000	Weak transcription	Gastric	stomach
31	chr8:62522000-62529400	Weak transcription	Fetal Stomach	stomach
32	chr8:62522000-62535000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:62522000-62535000	Weak transcription	Left Ventricle	heart
34	chr8:62522000-62535000	Weak transcription	Pancreas	Pancrea
35	chr8:62522000-62541000	Weak transcription	Ovary	ovary
36	chr8:62522000-62543400	Weak transcription	Spleen	Spleen
37	chr8:62522000-62544000	Weak transcription	Esophagus	oesophagus
38	chr8:62522200-62529000	Weak transcription	HMEC	breast
39	chr8:62522200-62529200	Weak transcription	Liver	Liver
40	chr8:62522200-62529200	Weak transcription	NH-A	brain
41	chr8:62522200-62535200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:62522200-62548800	Weak transcription	Placenta	Placenta
43	chr8:62522800-62541600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:62523400-62529400	Weak transcription	Colon Smooth Muscle	Colon
45	chr8:62523400-62549000	Weak transcription	Colonic Mucosa	Colon
46	chr8:62523600-62538000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:62523600-62548800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr8:62523800-62529000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:62523800-62541000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr8:62524600-62541200	Weak transcription	Psoas Muscle	Psoas

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