Variant report

Variant	rs6989958
Chromosome Location	chr8:48313780-48313781
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10107926	0.94[EUR][1000 genomes]
rs10481296	0.94[EUR][1000 genomes]
rs12216833	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1552667	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16925570	0.82[AFR][1000 genomes]
rs16927307	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55841214	0.92[EUR][1000 genomes]
rs55918561	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56107210	0.94[EUR][1000 genomes]
rs56391539	0.92[EUR][1000 genomes]
rs58828084	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6472453	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6992139	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7011833	0.90[EUR][1000 genomes]
rs72644585	0.92[EUR][1000 genomes]
rs72644587	0.87[EUR][1000 genomes]
rs72644597	1.00[EUR][1000 genomes]
rs72644602	0.86[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72646317	0.92[EUR][1000 genomes]
rs72646321	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72646324	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72646330	0.93[EUR][1000 genomes]
rs72646348	0.96[EUR][1000 genomes]
rs72646350	0.96[EUR][1000 genomes]
rs7822371	0.94[EUR][1000 genomes]
rs7824929	0.82[AFR][1000 genomes]
rs7829543	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7834901	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7839055	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9643810	0.87[EUR][1000 genomes]
rs9650144	1.00[EUR][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:92 , 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	chr8:48293200-48315000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:48295800-48324400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:48298200-48325600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:48298400-48316400	Weak transcription	NHLF	lung
8	chr8:48298400-48325400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:48298600-48325600	Weak transcription	Osteobl	bone
10	chr8:48299600-48331600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:48300000-48318600	Weak transcription	Stomach Mucosa	stomach
12	chr8:48300400-48331400	Weak transcription	Fetal Brain Male	brain
13	chr8:48300600-48320200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:48300800-48325600	Weak transcription	HMEC	breast
15	chr8:48301400-48341200	Weak transcription	HSMMtube	muscle
16	chr8:48301600-48325600	Weak transcription	Adipose Nuclei	Adipose
17	chr8:48303800-48328000	Weak transcription	Ovary	ovary
18	chr8:48306200-48314800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:48306600-48314200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:48307400-48328000	Weak transcription	GM12878-XiMat	blood
21	chr8:48307800-48317600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:48308400-48343600	Weak transcription	Colonic Mucosa	Colon
23	chr8:48308600-48322600	Weak transcription	HUVEC	blood vessel
24	chr8:48308600-48328000	Weak transcription	HSMM	muscle
25	chr8:48308800-48319000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:48308800-48322000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:48308800-48331000	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:48308800-48341200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:48310000-48350600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:48310400-48320800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:48310400-48327800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:48310600-48325600	Weak transcription	NHEK	skin
33	chr8:48310600-48343600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:48310800-48354800	Weak transcription	Right Ventricle	heart
35	chr8:48311000-48314200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:48311200-48313800	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr8:48311200-48314000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:48311600-48353000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr8:48311800-48329800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr8:48312000-48328000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:48312000-48328000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr8:48312000-48349000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:48312200-48322200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:48312200-48353000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:48312400-48314000	ZNF genes & repeats	Fetal Lung	lung
46	chr8:48312400-48341200	Weak transcription	K562	blood
47	chr8:48312600-48314200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:48312600-48320800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:48312800-48317600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:48312800-48320400	Weak transcription	Primary T cells fromperipheralblood	blood

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