Variant report

Variant	rs7716279
Chromosome Location	chr5:95179041-95179042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:95177864..95180977-chr5:95197821..95200225,3	MCF-7	breast:
2	chr5:95116606..95117631-chr5:95177527..95180416,16	MCF-7	breast:
3	chr5:94978554..94980153-chr5:95176537..95179055,2	MCF-7	breast:
4	chr5:94979775..94980600-chr5:95178574..95179492,2	MCF-7	breast:
5	chr5:95053439..95055836-chr5:95177234..95179999,3	MCF-7	breast:
6	chr5:95061804..95065801-chr5:95176790..95180360,3	MCF-7	breast:
7	chr5:94978334..94983270-chr5:95177087..95179816,5	K562	blood:
8	chr5:95177863..95179766-chr5:95206885..95209733,2	K562	blood:
9	chr5:95064707..95068604-chr5:95176347..95180425,6	MCF-7	breast:
10	chr5:94979527..94980403-chr5:95178510..95179271,2	MCF-7	breast:
11	chr5:95144281..95145870-chr5:95178022..95180919,2	MCF-7	breast:
12	chr5:94979687..94980466-chr5:95178591..95179270,3	K562	blood:
13	chr5:95116750..95117321-chr5:95178501..95179151,2	MCF-7	breast:
14	chr5:95165646..95168602-chr5:95177618..95179620,3	MCF-7	breast:
15	chr5:94982315..94985033-chr5:95175473..95179911,4	MCF-7	breast:
16	chr5:94980822..94983270-chr5:95176629..95179816,3	K562	blood:
17	chr5:95170293..95170986-chr5:95178495..95179415,4	MCF-7	breast:
18	chr5:95066611..95070336-chr5:95176781..95179613,3	MCF-7	breast:
19	chr5:95173988..95176848-chr5:95177535..95179576,2	K562	blood:
20	chr5:95065827..95067681-chr5:95178770..95180353,2	K562	blood:
21	chr5:94978692..94981484-chr5:95178419..95181281,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175449	Chromatin interaction
ENSG00000251000	Chromatin interaction
ENSG00000164292	Chromatin interaction
ENSG00000250240	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10055875	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10067941	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10079710	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12520664	0.98[ASN][1000 genomes]
rs2161312	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2546196	0.98[ASN][1000 genomes]
rs3797207	0.85[EUR][1000 genomes]
rs41470049	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6420125	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6556887	0.93[ASN][1000 genomes]
rs6556888	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6882301	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6883552	0.98[ASN][1000 genomes]
rs6884979	0.98[ASN][1000 genomes]
rs7702848	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703084	0.93[ASN][1000 genomes]
rs7708375	0.98[ASN][1000 genomes]
rs7719227	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95171800-95185800	Weak transcription	Pancreas	Pancrea
2	chr5:95172200-95180400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:95173400-95180800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr5:95174400-95180000	Enhancers	Primary B cells from cord blood	blood
5	chr5:95175400-95179800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr5:95175800-95182200	Weak transcription	Esophagus	oesophagus
7	chr5:95176000-95180200	Weak transcription	Gastric	stomach
8	chr5:95176200-95181200	Enhancers	Placenta	Placenta
9	chr5:95176400-95180400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:95176800-95179200	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:95176800-95179400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:95176800-95179400	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr5:95176800-95180000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:95177000-95180200	Enhancers	Adipose Nuclei	Adipose
15	chr5:95177000-95180600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr5:95177000-95181400	Enhancers	Primary hematopoietic stem cells	blood
17	chr5:95177200-95179400	Enhancers	NHLF	lung
18	chr5:95177200-95180000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:95177200-95180200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr5:95177400-95179400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:95177400-95179600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:95177600-95179200	Enhancers	HUVEC	blood vessel
23	chr5:95177600-95179400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:95177600-95179400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr5:95177600-95179400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:95177600-95179400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:95177600-95179400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:95177600-95179400	Enhancers	NHDF-Ad	bronchial
29	chr5:95177600-95179800	Enhancers	Liver	Liver
30	chr5:95177600-95180000	Enhancers	K562	blood
31	chr5:95177800-95179200	Enhancers	HSMMtube	muscle
32	chr5:95177800-95179400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:95177800-95179600	Enhancers	Osteobl	bone
34	chr5:95177800-95179800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr5:95177800-95192200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:95178000-95179600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr5:95178000-95180000	Enhancers	Fetal Intestine Large	intestine
38	chr5:95178200-95179200	Enhancers	Lung	lung
39	chr5:95178200-95179200	Enhancers	Right Ventricle	heart
40	chr5:95178200-95179400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr5:95178200-95179400	Enhancers	Psoas Muscle	Psoas
42	chr5:95178200-95179600	Enhancers	Primary T cells fromperipheralblood	blood
43	chr5:95178200-95179800	Enhancers	Fetal Thymus	thymus
44	chr5:95178200-95180000	Enhancers	Primary T cells from cord blood	blood
45	chr5:95178200-95182200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:95178400-95179400	Enhancers	Primary B cells from peripheral blood	blood
47	chr5:95178400-95179400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr5:95178400-95179400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr5:95178400-95179800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:95178400-95179800	Enhancers	Sigmoid Colon	Sigmoid Colon

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