Variant report

Variant	rs9743896
Chromosome Location	chr8:48331140-48331141
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10438157	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10747299	0.85[ASN][1000 genomes]
rs11158737	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12435006	0.85[ASN][1000 genomes]
rs12588330	0.85[ASN][1000 genomes]
rs12897307	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12897678	0.86[EUR][1000 genomes]
rs17755674	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1956538	0.84[ASN][1000 genomes]
rs2331703	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331704	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525507	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2753403	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842320	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3784118	0.84[ASN][1000 genomes]
rs3966077	0.84[ASN][1000 genomes]
rs4902578	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902580	0.85[ASN][1000 genomes]
rs4902582	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902587	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902588	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902589	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145422	0.84[ASN][1000 genomes]
rs9323510	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323511	0.84[AMR][1000 genomes];0.81[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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48290800-48347400	Weak transcription	HepG2	liver
2	chr8:48299600-48331600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:48300400-48331400	Weak transcription	Fetal Brain Male	brain
4	chr8:48301400-48341200	Weak transcription	HSMMtube	muscle
5	chr8:48308400-48343600	Weak transcription	Colonic Mucosa	Colon
6	chr8:48308800-48341200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:48310000-48350600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:48310600-48343600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:48310800-48354800	Weak transcription	Right Ventricle	heart
10	chr8:48311600-48353000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:48312000-48349000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:48312200-48353000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:48312400-48341200	Weak transcription	K562	blood
14	chr8:48312800-48342600	Weak transcription	Left Ventricle	heart
15	chr8:48312800-48342600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:48312800-48358600	Weak transcription	Thymus	Thymus
17	chr8:48312800-48367600	Weak transcription	Pancreas	Pancrea
18	chr8:48312800-48377000	Weak transcription	Esophagus	oesophagus
19	chr8:48313000-48343400	Weak transcription	Aorta	Aorta
20	chr8:48313200-48361000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr8:48313400-48352800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:48314000-48331600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:48319800-48334200	Weak transcription	Placenta	Placenta
24	chr8:48321800-48333000	Weak transcription	Brain Anterior Caudate	brain
25	chr8:48322600-48340000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:48323000-48340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:48323000-48354200	Weak transcription	Spleen	Spleen
28	chr8:48323000-48364400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:48323200-48343400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr8:48326000-48340200	Weak transcription	Lung	lung
31	chr8:48326000-48341200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:48326000-48366000	Weak transcription	Gastric	stomach
33	chr8:48326200-48335000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:48326200-48341200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:48326200-48342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:48326200-48343400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:48326200-48354800	Weak transcription	HMEC	breast
38	chr8:48326200-48362600	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:48326800-48347400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:48327400-48341200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:48328400-48334600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:48328400-48337400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:48328400-48339000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr8:48328400-48340800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:48328400-48362600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr8:48328600-48334400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:48328600-48335400	Weak transcription	Primary B cells from cord blood	blood
48	chr8:48328600-48337200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:48328600-48337400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:48328600-48339200	Weak transcription	Hela-S3	cervix

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