Variant report

Variant	rs7000800
Chromosome Location	chr8:11633188-11633189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11626206..11627819-chr8:11632812..11634390,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154328	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1047643	1.00[ASN][1000 genomes]
rs1534862	0.87[AMR][1000 genomes]
rs17754589	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883016	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55865839	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66651545	1.00[ASN][1000 genomes]
rs67123108	0.84[EUR][1000 genomes]
rs8191511	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8191528	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8191534	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8191604	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8191642	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8191649	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8191663	0.82[AMR][1000 genomes]
rs904009	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv890360	chr8:11619163-11639991	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11628000-11640800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:11628400-11634000	Weak transcription	Aorta	Aorta
3	chr8:11628400-11635800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:11628400-11637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:11628400-11640000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:11628400-11640600	Weak transcription	A549	lung
7	chr8:11628400-11640600	Weak transcription	NH-A	brain
8	chr8:11628400-11641200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:11628400-11641200	Weak transcription	Psoas Muscle	Psoas
10	chr8:11628400-11641400	Weak transcription	Esophagus	oesophagus
11	chr8:11628400-11647200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:11628400-11653000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:11628400-11656800	Weak transcription	Small Intestine	intestine
14	chr8:11628600-11634000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr8:11628600-11634000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:11628600-11634200	Weak transcription	Left Ventricle	heart
17	chr8:11628600-11635400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:11628600-11636800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:11628600-11637200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:11628600-11638000	Weak transcription	NHEK	skin
21	chr8:11628600-11638400	Weak transcription	NHLF	lung
22	chr8:11628600-11638800	Weak transcription	HMEC	breast
23	chr8:11628600-11640600	Weak transcription	Osteobl	bone
24	chr8:11628600-11640800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:11628600-11641800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:11628600-11647200	Weak transcription	Fetal Heart	heart
27	chr8:11628800-11635200	Weak transcription	K562	blood
28	chr8:11628800-11638200	Weak transcription	NHDF-Ad	bronchial
29	chr8:11628800-11639800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:11628800-11640200	Weak transcription	Pancreas	Pancrea
31	chr8:11628800-11640400	Weak transcription	HSMMtube	muscle
32	chr8:11628800-11640600	Weak transcription	Placenta	Placenta
33	chr8:11628800-11640600	Weak transcription	HepG2	liver
34	chr8:11628800-11640800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:11628800-11640800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:11628800-11641000	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:11628800-11641200	Weak transcription	HSMM	muscle
38	chr8:11628800-11641600	Weak transcription	Colonic Mucosa	Colon
39	chr8:11628800-11646800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:11629000-11634800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:11629000-11635200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr8:11629000-11638000	Weak transcription	Brain Germinal Matrix	brain
43	chr8:11629000-11640200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:11629000-11640400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr8:11629000-11640800	Weak transcription	Gastric	stomach
46	chr8:11629000-11640800	Weak transcription	Right Ventricle	heart
47	chr8:11629000-11641000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr8:11629000-11641600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:11629200-11633800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:11629200-11634000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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