Variant report

Variant	rs7000987
Chromosome Location	chr8:121873848-121873849
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	chr8:121864308..121866677-chr8:121872620..121875288,2	MCF-7	breast:
2	chr8:121861612..121864034-chr8:121872422..121874822,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10086522	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10091815	0.84[EUR][1000 genomes]
rs10104069	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10109303	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113493	0.86[EUR][1000 genomes]
rs10955992	0.82[EUR][1000 genomes]
rs12544762	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4501619	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871138	0.81[EUR][1000 genomes]
rs4871139	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6996149	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003180	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9297630	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 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	nsv612116	chr8:121868551-121874346	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3479954	chr8:121872275-121874656	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv8305	chr8:121872370-121874672	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3479957	chr8:121872473-121874524	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3479951	chr8:121872521-121874499	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3479956	chr8:121872526-121874485	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3479950	chr8:121872543-121874466	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3479955	chr8:121872591-121874422	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3479958	chr8:121872605-121874420	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv14825	chr8:121872606-121874392	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv612120	chr8:121872729-121874225	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv612121	chr8:121872729-121874284	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv612122	chr8:121872729-121874346	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv612123	chr8:121872943-121874284	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv612124	chr8:121873001-121874284	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv612125	chr8:121873097-121874284	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv612126	chr8:121873270-121874122	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv612127	chr8:121873270-121874284	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv612128	chr8:121873270-121874346	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
26	nsv612129	chr8:121873448-121874284	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121868800-121874600	Enhancers	Primary hematopoietic stem cells	blood
2	chr8:121868800-121877200	Enhancers	HepG2	liver
3	chr8:121869000-121874600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr8:121869000-121874800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:121870200-121874800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr8:121870200-121875000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:121870400-121875000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:121871000-121874000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:121872000-121874000	Weak transcription	Primary T cells from cord blood	blood
10	chr8:121872200-121875200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr8:121872400-121875000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr8:121872600-121874800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:121872800-121874400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr8:121872800-121874400	Enhancers	NHDF-Ad	bronchial
15	chr8:121872800-121874800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr8:121872800-121874800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr8:121873000-121874200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:121873200-121874200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:121873200-121874200	Enhancers	HMEC	breast
20	chr8:121873200-121874200	Enhancers	HUVEC	blood vessel
21	chr8:121873200-121874400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:121873200-121874400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:121873200-121874400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr8:121873200-121874400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr8:121873200-121874600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:121873200-121874600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:121873200-121874600	Enhancers	Fetal Thymus	thymus
28	chr8:121873200-121874600	Enhancers	Lung	lung
29	chr8:121873200-121874600	Enhancers	Osteobl	bone
30	chr8:121873200-121874800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:121873200-121874800	Enhancers	Primary T cells fromperipheralblood	blood
32	chr8:121873200-121874800	Enhancers	Brain Germinal Matrix	brain
33	chr8:121873200-121874800	Enhancers	Fetal Muscle Trunk	muscle
34	chr8:121873200-121874800	Enhancers	Spleen	Spleen
35	chr8:121873200-121875000	Enhancers	Fetal Muscle Leg	muscle
36	chr8:121873400-121874000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:121873400-121874000	Bivalent Enhancer	Brain Substantia Nigra	brain
38	chr8:121873400-121874000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr8:121873400-121874000	Enhancers	Ovary	ovary
40	chr8:121873400-121874000	Enhancers	Right Ventricle	heart
41	chr8:121873400-121874200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:121873400-121874200	Enhancers	Colonic Mucosa	Colon
43	chr8:121873400-121874200	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr8:121873400-121874200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr8:121873400-121874200	Enhancers	Thymus	Thymus
46	chr8:121873400-121874400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:121873400-121874400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr8:121873400-121874400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:121873400-121874400	Enhancers	Adipose Nuclei	Adipose
50	chr8:121873400-121874400	Enhancers	Liver	Liver

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