Variant report

Variant	rs9657080
Chromosome Location	chr8:48321047-48321048
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	chr8:48320531..48322399-chr8:48323544..48325394,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10086266	0.84[AFR][1000 genomes]
rs10090708	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10094689	0.92[AFR][1000 genomes]
rs10099656	1.00[YRI][hapmap]
rs10104074	0.81[AFR][1000 genomes]
rs10104642	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10105470	1.00[YRI][hapmap]
rs10110049	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs10111833	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10111963	1.00[AMR][1000 genomes]
rs11993708	1.00[AFR][1000 genomes]
rs28382309	0.84[AFR][1000 genomes]
rs28393034	0.93[YRI][hapmap]
rs28408352	0.92[AFR][1000 genomes]
rs28439682	1.00[AMR][1000 genomes]
rs28533391	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28587193	1.00[AFR][1000 genomes]
rs28812531	1.00[AFR][1000 genomes]
rs28897086	1.00[AFR][1000 genomes]
rs6989067	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6992748	1.00[AMR][1000 genomes]
rs6994360	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7003614	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7014936	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7821542	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7823419	1.00[YRI][hapmap]
rs7831198	1.00[AFR][1000 genomes];1.00[AMR][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	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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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:90 , 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	chr8:48300400-48331400	Weak transcription	Fetal Brain Male	brain
10	chr8:48300800-48325600	Weak transcription	HMEC	breast
11	chr8:48301400-48341200	Weak transcription	HSMMtube	muscle
12	chr8:48301600-48325600	Weak transcription	Adipose Nuclei	Adipose
13	chr8:48303800-48328000	Weak transcription	Ovary	ovary
14	chr8:48307400-48328000	Weak transcription	GM12878-XiMat	blood
15	chr8:48308400-48343600	Weak transcription	Colonic Mucosa	Colon
16	chr8:48308600-48322600	Weak transcription	HUVEC	blood vessel
17	chr8:48308600-48328000	Weak transcription	HSMM	muscle
18	chr8:48308800-48322000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:48308800-48331000	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:48308800-48341200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:48310000-48350600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:48310400-48327800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:48310600-48325600	Weak transcription	NHEK	skin
24	chr8:48310600-48343600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:48310800-48354800	Weak transcription	Right Ventricle	heart
26	chr8:48311600-48353000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr8:48311800-48329800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr8:48312000-48328000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:48312000-48328000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:48312000-48349000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:48312200-48322200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:48312200-48353000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:48312400-48341200	Weak transcription	K562	blood
34	chr8:48312800-48322200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:48312800-48322200	Weak transcription	Spleen	Spleen
36	chr8:48312800-48325400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:48312800-48325600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:48312800-48325600	Weak transcription	Gastric	stomach
39	chr8:48312800-48325600	Weak transcription	Lung	lung
40	chr8:48312800-48327800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr8:48312800-48328000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:48312800-48342600	Weak transcription	Left Ventricle	heart
43	chr8:48312800-48342600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr8:48312800-48358600	Weak transcription	Thymus	Thymus
45	chr8:48312800-48367600	Weak transcription	Pancreas	Pancrea
46	chr8:48312800-48377000	Weak transcription	Esophagus	oesophagus
47	chr8:48313000-48322200	Weak transcription	Fetal Stomach	stomach
48	chr8:48313000-48325000	Weak transcription	A549	lung
49	chr8:48313000-48343400	Weak transcription	Aorta	Aorta
50	chr8:48313200-48322200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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