Variant report

Variant	rs7016371
Chromosome Location	chr8:62614916-62614917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:62585552..62587244-chr8:62613308..62616165,2	K562	blood:
2	chr8:62612675..62615533-chr8:62623174..62625946,2	MCF-7	breast:
3	chr8:62614589..62616829-chr8:62629652..62632067,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11539105	1.00[EUR][1000 genomes]
rs11987270	1.00[EUR][1000 genomes]
rs11987285	1.00[EUR][1000 genomes]
rs57225236	1.00[EUR][1000 genomes]
rs57787482	1.00[EUR][1000 genomes]
rs60140341	1.00[EUR][1000 genomes]
rs61565764	1.00[EUR][1000 genomes]
rs61704340	1.00[EUR][1000 genomes]
rs73259365	1.00[EUR][1000 genomes]
rs73259370	1.00[EUR][1000 genomes]
rs73259374	1.00[EUR][1000 genomes]
rs73259381	1.00[EUR][1000 genomes]
rs73259382	1.00[EUR][1000 genomes]
rs73259398	1.00[EUR][1000 genomes]
rs73259402	1.00[EUR][1000 genomes]
rs73261103	1.00[EUR][1000 genomes]
rs73261115	1.00[EUR][1000 genomes]
rs73263152	1.00[EUR][1000 genomes]
rs73263158	1.00[EUR][1000 genomes]
rs73263168	1.00[EUR][1000 genomes]
rs73263187	1.00[EUR][1000 genomes]
rs73263194	1.00[EUR][1000 genomes]
rs73265171	1.00[EUR][1000 genomes]
rs73265199	1.00[EUR][1000 genomes]
rs73682364	1.00[EUR][1000 genomes]
rs73685136	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:62607200-62619000	Weak transcription	NHEK	skin
3	chr8:62609000-62619800	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:62610000-62621200	Weak transcription	Brain Anterior Caudate	brain
5	chr8:62610000-62624400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:62610400-62620000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:62611000-62615600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:62611400-62619400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr8:62611800-62618600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:62612800-62619800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:62612800-62620000	Weak transcription	Liver	Liver
12	chr8:62613000-62615000	Weak transcription	Spleen	Spleen
13	chr8:62613000-62615800	Enhancers	K562	blood
14	chr8:62613000-62617200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:62613000-62618800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:62613000-62618800	Weak transcription	Aorta	Aorta
17	chr8:62613000-62619400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:62613000-62620000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:62613000-62620200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:62613000-62620600	Weak transcription	HSMM	muscle
21	chr8:62613000-62621200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:62613000-62621200	Weak transcription	Pancreas	Pancrea
23	chr8:62613000-62624600	Weak transcription	Brain Germinal Matrix	brain
24	chr8:62613000-62626400	Weak transcription	Lung	lung
25	chr8:62613200-62615000	Weak transcription	Brain Substantia Nigra	brain
26	chr8:62613400-62616000	Enhancers	Primary hematopoietic stem cells	blood
27	chr8:62613400-62617000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:62613400-62618000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:62613600-62619200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:62613800-62615000	Weak transcription	HepG2	liver
31	chr8:62613800-62617200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:62613800-62617400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:62613800-62617600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:62613800-62618600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:62613800-62618800	Weak transcription	Gastric	stomach
36	chr8:62613800-62619200	Weak transcription	Fetal Heart	heart
37	chr8:62613800-62621200	Weak transcription	Ovary	ovary
38	chr8:62613800-62621200	Weak transcription	Small Intestine	intestine
39	chr8:62613800-62622000	Weak transcription	Fetal Lung	lung
40	chr8:62613800-62622400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr8:62613800-62622800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr8:62613800-62623000	Weak transcription	Brain Angular Gyrus	brain
43	chr8:62613800-62623200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr8:62613800-62624600	Weak transcription	Left Ventricle	heart
45	chr8:62613800-62624600	Weak transcription	Right Ventricle	heart
46	chr8:62613800-62624600	Weak transcription	Thymus	Thymus
47	chr8:62614000-62615200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr8:62614000-62615400	Weak transcription	HUVEC	blood vessel
49	chr8:62614000-62615800	Weak transcription	Fetal Intestine Small	intestine
50	chr8:62614000-62616400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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