Variant report

Variant	rs35045730
Chromosome Location	chr8:48364120-48364121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1038797	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10808752	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10957074	0.93[EUR][1000 genomes]
rs11774001	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11775514	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11775628	0.93[EUR][1000 genomes]
rs11781727	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11783141	0.91[EUR][1000 genomes]
rs11785228	0.97[EUR][1000 genomes]
rs12541086	0.90[EUR][1000 genomes]
rs12543823	0.91[EUR][1000 genomes]
rs12547513	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12680669	0.96[EUR][1000 genomes]
rs12682269	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13259913	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2087656	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2130879	0.90[EUR][1000 genomes]
rs2172121	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2362554	0.96[EUR][1000 genomes]
rs34099416	0.95[EUR][1000 genomes]
rs35235599	0.83[EUR][1000 genomes]
rs4498545	0.89[EUR][1000 genomes]
rs4873102	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4873106	0.97[EUR][1000 genomes]
rs4873293	0.94[EUR][1000 genomes]
rs6472229	0.90[EUR][1000 genomes]
rs6981790	0.92[EUR][1000 genomes]
rs6990123	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6994218	0.92[EUR][1000 genomes]
rs7012341	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7826284	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7839134	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs902619	0.93[EUR][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	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48312800-48367600	Weak transcription	Pancreas	Pancrea
2	chr8:48312800-48377000	Weak transcription	Esophagus	oesophagus
3	chr8:48323000-48364400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:48326000-48366000	Weak transcription	Gastric	stomach
5	chr8:48328600-48371400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:48328600-48374600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:48340600-48365600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:48342200-48372600	Weak transcription	Liver	Liver
9	chr8:48343800-48366800	Weak transcription	Aorta	Aorta
10	chr8:48343800-48371400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:48345000-48369800	Weak transcription	NH-A	brain
12	chr8:48345000-48370600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:48347200-48366000	Weak transcription	Fetal Thymus	thymus
14	chr8:48351400-48387000	Weak transcription	Left Ventricle	heart
15	chr8:48351600-48364200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:48352400-48365200	Weak transcription	Brain Anterior Caudate	brain
17	chr8:48353000-48374400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:48353000-48390600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:48353400-48364200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:48353400-48364400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:48353400-48374600	Weak transcription	Fetal Kidney	kidney
22	chr8:48353400-48374600	Weak transcription	HSMMtube	muscle
23	chr8:48353400-48382000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:48353600-48364200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:48354000-48365200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr8:48357400-48370400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:48358000-48364800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr8:48358400-48374600	Weak transcription	Psoas Muscle	Psoas
29	chr8:48358800-48371400	Weak transcription	Dnd41	blood
30	chr8:48359000-48371200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:48361200-48364800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:48361800-48376000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:48362200-48364400	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr8:48362200-48364800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:48362400-48364400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:48362400-48373800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:48362600-48364800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:48362800-48364800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:48362800-48364800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr8:48362800-48387400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:48362800-48387600	Weak transcription	Ovary	ovary
42	chr8:48363000-48364200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:48363000-48364200	Strong transcription	Fetal Muscle Leg	muscle
44	chr8:48363000-48364800	Strong transcription	Primary B cells from cord blood	blood
45	chr8:48363200-48364600	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr8:48363200-48364800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr8:48363200-48376400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr8:48363400-48364200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:48363400-48364800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:48363400-48374600	Weak transcription	A549	lung

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