Variant report

Variant	rs4873293
Chromosome Location	chr8:48316543-48316544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1038797	0.93[EUR][1000 genomes]
rs10808752	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs10957074	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11774001	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs11775514	0.88[EUR][1000 genomes]
rs11775628	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11781727	0.98[EUR][1000 genomes]
rs11783141	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11784823	0.80[AFR][1000 genomes]
rs11785228	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12541086	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12543823	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12547513	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12680669	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12682269	0.96[EUR][1000 genomes]
rs13259913	0.94[EUR][1000 genomes]
rs2087656	0.94[EUR][1000 genomes]
rs2130879	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2172121	0.97[EUR][1000 genomes]
rs2362554	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34099416	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35045730	0.94[EUR][1000 genomes]
rs35235599	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4498545	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4873102	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4873106	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4873292	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4873368	0.84[AFR][1000 genomes]
rs6472229	0.91[EUR][1000 genomes]
rs6981790	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6990123	0.93[EUR][1000 genomes]
rs6994218	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7012341	0.96[EUR][1000 genomes]
rs7826284	0.97[EUR][1000 genomes]
rs7839134	0.90[EUR][1000 genomes]
rs876915	0.80[AFR][1000 genomes]
rs902619	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1817304	chr8:48205314-48321308	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	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
9	nsv1018457	chr8:48289643-48321308	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
10	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

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48282400-48321200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:48290800-48322200	Weak transcription	Liver	Liver
3	chr8:48290800-48347400	Weak transcription	HepG2	liver
4	chr8:48295800-48324400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:48298200-48325600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:48298400-48325400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:48298600-48325600	Weak transcription	Osteobl	bone
8	chr8:48299600-48331600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:48300000-48318600	Weak transcription	Stomach Mucosa	stomach
10	chr8:48300400-48331400	Weak transcription	Fetal Brain Male	brain
11	chr8:48300600-48320200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:48300800-48325600	Weak transcription	HMEC	breast
13	chr8:48301400-48341200	Weak transcription	HSMMtube	muscle
14	chr8:48301600-48325600	Weak transcription	Adipose Nuclei	Adipose
15	chr8:48303800-48328000	Weak transcription	Ovary	ovary
16	chr8:48307400-48328000	Weak transcription	GM12878-XiMat	blood
17	chr8:48307800-48317600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:48308400-48343600	Weak transcription	Colonic Mucosa	Colon
19	chr8:48308600-48322600	Weak transcription	HUVEC	blood vessel
20	chr8:48308600-48328000	Weak transcription	HSMM	muscle
21	chr8:48308800-48319000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:48308800-48322000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:48308800-48331000	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:48308800-48341200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:48310000-48350600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:48310400-48320800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:48310400-48327800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:48310600-48325600	Weak transcription	NHEK	skin
29	chr8:48310600-48343600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:48310800-48354800	Weak transcription	Right Ventricle	heart
31	chr8:48311600-48353000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr8:48311800-48329800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr8:48312000-48328000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:48312000-48328000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr8:48312000-48349000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:48312200-48322200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:48312200-48353000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:48312400-48341200	Weak transcription	K562	blood
39	chr8:48312600-48320800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:48312800-48317600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:48312800-48320400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr8:48312800-48320800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:48312800-48322200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:48312800-48322200	Weak transcription	Spleen	Spleen
45	chr8:48312800-48325400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:48312800-48325600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:48312800-48325600	Weak transcription	Gastric	stomach
48	chr8:48312800-48325600	Weak transcription	Lung	lung
49	chr8:48312800-48327800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:48312800-48328000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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