Variant report

Variant	rs4886953
Chromosome Location	chr15:76000944-76000945
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	chr15:75988253..75990634-chr15:75998621..76001353,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10467951	0.83[EUR][1000 genomes]
rs10851883	0.85[EUR][1000 genomes]
rs12594714	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12908447	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2405902	0.83[EUR][1000 genomes]
rs2405903	0.83[EUR][1000 genomes]
rs2675216	0.82[EUR][1000 genomes]
rs2675217	0.80[EUR][1000 genomes]
rs4886456	0.86[EUR][1000 genomes]
rs4886735	0.81[EUR][1000 genomes]
rs749161	0.83[EUR][1000 genomes]
rs8023610	0.91[EUR][1000 genomes]
rs8032669	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
4	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
6	esv1813854	chr15:75898640-76002392	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv527186	chr15:75924443-76107730	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
8	nsv904391	chr15:75930757-76001654	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	nsv904392	chr15:75930757-76039262	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
10	nsv904393	chr15:75932177-76001654	Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
11	nsv904394	chr15:75948671-76039262	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv904396	chr15:75961518-76071105	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75987800-76004800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr15:75993000-76005000	Weak transcription	Brain Germinal Matrix	brain
3	chr15:75993200-76001800	Weak transcription	Fetal Brain Male	brain
4	chr15:75993400-76001600	Weak transcription	Ovary	ovary
5	chr15:75993600-76001000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr15:75994800-76001600	Weak transcription	Spleen	Spleen
7	chr15:75995800-76001600	Enhancers	Adipose Nuclei	Adipose
8	chr15:75996400-76001400	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr15:75996600-76001600	Genic enhancers	Fetal Muscle Leg	muscle
10	chr15:75997000-76001400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr15:75997000-76002600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:75997000-76003400	Weak transcription	HMEC	breast
13	chr15:75997200-76001000	Weak transcription	Colonic Mucosa	Colon
14	chr15:75997200-76001400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:75997200-76001600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:75997200-76003200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr15:75997200-76003800	Weak transcription	Psoas Muscle	Psoas
18	chr15:75997200-76004000	Weak transcription	Osteobl	bone
19	chr15:75997200-76004600	Weak transcription	Brain Substantia Nigra	brain
20	chr15:75997600-76001600	Weak transcription	Fetal Intestine Small	intestine
21	chr15:75997800-76001400	Weak transcription	Hela-S3	cervix
22	chr15:75998400-76001000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr15:75998400-76001200	Weak transcription	Fetal Lung	lung
24	chr15:75998400-76001600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr15:75998400-76005600	Weak transcription	Fetal Kidney	kidney
26	chr15:75998600-76001000	Weak transcription	Esophagus	oesophagus
27	chr15:75998600-76001400	Genic enhancers	Colon Smooth Muscle	Colon
28	chr15:75998600-76001600	Weak transcription	Right Atrium	heart
29	chr15:75998800-76001000	Weak transcription	Right Ventricle	heart
30	chr15:75998800-76003800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:75998800-76004000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:75998800-76004000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr15:75998800-76004000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:75998800-76004800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr15:75998800-76004800	Weak transcription	HSMMtube	muscle
36	chr15:75999000-76001000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:75999000-76001200	Weak transcription	Aorta	Aorta
38	chr15:75999000-76001200	Weak transcription	Left Ventricle	heart
39	chr15:75999000-76002800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:75999000-76003800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:75999000-76004800	Weak transcription	Gastric	stomach
42	chr15:75999200-76001000	Weak transcription	NHLF	lung
43	chr15:75999200-76001600	Weak transcription	NH-A	brain
44	chr15:75999800-76001800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr15:75999800-76001800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:76000000-76001000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr15:76000000-76001000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr15:76000000-76001200	Weak transcription	NHDF-Ad	bronchial
49	chr15:76000200-76001000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:76000200-76001000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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