Variant report

Variant	rs6990876
Chromosome Location	chr8:121870445-121870446
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	chr8:121865313..121867738-chr8:121870281..121872439,2	MCF-7	breast:
2	chr8:121854976..121857000-chr8:121869044..121870751,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10113493	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955991	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10955992	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13248499	0.84[EUR][1000 genomes]
rs4871137	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4871138	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6990903	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891423	chr8:121847643-121994660	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv437632	chr8:121861465-121877076	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv612115	chr8:121868551-121873486	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv612116	chr8:121868551-121874346	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3402396	chr8:121869621-121871769	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121868200-121872600	Enhancers	NHLF	lung
2	chr8:121868400-121871400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:121868800-121871000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr8:121868800-121874600	Enhancers	Primary hematopoietic stem cells	blood
5	chr8:121868800-121877200	Enhancers	HepG2	liver
6	chr8:121869000-121870600	Enhancers	HSMMtube	muscle
7	chr8:121869000-121871600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr8:121869000-121874600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr8:121869000-121874800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:121869200-121871000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr8:121869200-121871000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:121869200-121871000	Enhancers	Fetal Muscle Leg	muscle
13	chr8:121869200-121871000	Enhancers	HSMM	muscle
14	chr8:121869400-121871000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:121869400-121871000	Enhancers	Fetal Kidney	kidney
16	chr8:121869400-121871200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr8:121869400-121872200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr8:121869800-121871000	Enhancers	Osteobl	bone
19	chr8:121870000-121873400	Weak transcription	Colonic Mucosa	Colon
20	chr8:121870000-121873400	Weak transcription	Right Ventricle	heart
21	chr8:121870200-121871000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:121870200-121871000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:121870200-121871000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr8:121870200-121871000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr8:121870200-121871200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:121870200-121871400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr8:121870200-121871400	Enhancers	NHDF-Ad	bronchial
28	chr8:121870200-121872000	Enhancers	Primary T cells from cord blood	blood
29	chr8:121870200-121872000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr8:121870200-121873400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:121870200-121873400	Weak transcription	Pancreas	Pancrea
32	chr8:121870200-121873600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:121870200-121873800	Weak transcription	Gastric	stomach
34	chr8:121870200-121874800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr8:121870200-121875000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:121870400-121871000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:121870400-121871800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:121870400-121872400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr8:121870400-121872400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:121870400-121872600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:121870400-121873200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr8:121870400-121873200	Weak transcription	Fetal Thymus	thymus
43	chr8:121870400-121873200	Weak transcription	Lung	lung
44	chr8:121870400-121873200	Weak transcription	Spleen	Spleen
45	chr8:121870400-121873200	Weak transcription	HMEC	breast
46	chr8:121870400-121873200	Weak transcription	HUVEC	blood vessel
47	chr8:121870400-121873400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:121870400-121873400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:121870400-121873400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:121870400-121873400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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