Variant report

Variant	rs10808752
Chromosome Location	chr8:48359042-48359043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48352837..48354610-chr8:48358749..48360682,2	K562	blood:
2	chr8:48356855..48359120-chr8:48360293..48362250,2	K562	blood:

Variant related genes	Relation type
ENSG00000164808	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1038797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10957074	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10958058	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs1106607	0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs11774001	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11775514	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11775628	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs11779308	0.80[EUR][1000 genomes]
rs11779423	0.81[EUR][1000 genomes]
rs11781727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11782572	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs11783141	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11785228	0.97[EUR][1000 genomes]
rs12541086	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12543823	0.94[EUR][1000 genomes]
rs12544329	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs12547513	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12549996	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs12680669	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12682269	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13259872	0.81[EUR][1000 genomes]
rs13259913	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2087656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2129617	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs2130879	0.92[EUR][1000 genomes]
rs2172121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2362554	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs34099416	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs35045730	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35235599	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4242439	0.81[EUR][1000 genomes]
rs4388466	0.81[EUR][1000 genomes]
rs4498545	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4608108	0.95[JPT][hapmap]
rs4872957	0.81[EUR][1000 genomes]
rs4873102	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4873106	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs4873293	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4873395	0.85[CHB][hapmap]
rs4873437	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs6472229	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6981790	0.93[EUR][1000 genomes]
rs6982620	0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6990123	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6994218	0.93[EUR][1000 genomes]
rs7012341	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7819806	0.81[EUR][1000 genomes]
rs7826284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7839134	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs902619	1.00[CEU][hapmap];0.95[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:70 , 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	chr8:48313200-48361000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr8:48323000-48364400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:48326000-48366000	Weak transcription	Gastric	stomach
6	chr8:48326200-48362600	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:48328400-48362600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr8:48328600-48361800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:48328600-48362400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:48328600-48364000	Weak transcription	Fetal Intestine Large	intestine
11	chr8:48328600-48371400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:48328600-48374600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:48335000-48362400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:48335400-48363400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:48340400-48364000	Weak transcription	Lung	lung
16	chr8:48340600-48365600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:48342000-48362600	Weak transcription	Ovary	ovary
18	chr8:48342200-48372600	Weak transcription	Liver	Liver
19	chr8:48342600-48364000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:48343800-48366800	Weak transcription	Aorta	Aorta
21	chr8:48343800-48371400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:48344200-48363200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:48344400-48363200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:48344800-48362800	Weak transcription	A549	lung
25	chr8:48345000-48369800	Weak transcription	NH-A	brain
26	chr8:48345000-48370600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:48346200-48362600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:48347200-48366000	Weak transcription	Fetal Thymus	thymus
29	chr8:48349600-48362400	Weak transcription	Fetal Intestine Small	intestine
30	chr8:48349600-48363800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:48349600-48363800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:48351000-48363800	Weak transcription	Fetal Stomach	stomach
33	chr8:48351400-48387000	Weak transcription	Left Ventricle	heart
34	chr8:48351600-48364200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:48352400-48361800	Weak transcription	GM12878-XiMat	blood
36	chr8:48352400-48364000	Weak transcription	Adipose Nuclei	Adipose
37	chr8:48352400-48365200	Weak transcription	Brain Anterior Caudate	brain
38	chr8:48353000-48374400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:48353000-48390600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:48353200-48364000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr8:48353200-48364000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:48353400-48361400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:48353400-48362400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:48353400-48364200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:48353400-48364400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr8:48353400-48374600	Weak transcription	Fetal Kidney	kidney
47	chr8:48353400-48374600	Weak transcription	HSMMtube	muscle
48	chr8:48353400-48382000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:48353600-48363400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:48353600-48363800	Weak transcription	Fetal Lung	lung

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