Variant report

Variant	rs4886445
Chromosome Location	chr15:75740757-75740758
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	chr15:75657601..75665504-chr15:75739437..75749700,27	K562	blood:
2	chr15:75656095..75662590-chr15:75739456..75750037,27	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260274	Chromatin interaction
ENSG00000140400	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12591076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12591309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12591954	1.00[EUR][1000 genomes]
rs12592026	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12592505	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12593372	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12593870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12594671	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28372857	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34234047	0.81[ASN][1000 genomes]
rs4886434	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4886435	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4886685	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4886689	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4886697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4886701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8032031	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8035510	1.00[EUR][1000 genomes]
rs8035796	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9788768	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv482802	chr15:75686519-75899896	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
8	nsv904387	chr15:75706296-75806911	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv531902	chr15:75724505-75919237	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
10	nsv904388	chr15:75730182-75804543	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	nsv904389	chr15:75739824-75806911	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75704800-75742200	Weak transcription	Fetal Brain Male	brain
2	chr15:75705400-75741000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:75705400-75742200	Weak transcription	Right Ventricle	heart
4	chr15:75715400-75741400	Weak transcription	Small Intestine	intestine
5	chr15:75715600-75742200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:75717000-75742600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr15:75721200-75742600	Weak transcription	Aorta	Aorta
8	chr15:75721800-75742000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:75722000-75741600	Weak transcription	Brain Hippocampus Middle	brain
10	chr15:75722200-75742000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr15:75722600-75741600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr15:75722600-75742000	Weak transcription	Brain Anterior Caudate	brain
13	chr15:75722800-75741000	Weak transcription	Brain Germinal Matrix	brain
14	chr15:75722800-75741400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr15:75722800-75741600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:75722800-75741600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr15:75722800-75742000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr15:75722800-75742200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr15:75722800-75742200	Weak transcription	Gastric	stomach
20	chr15:75722800-75742200	Weak transcription	Pancreas	Pancrea
21	chr15:75722800-75742200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr15:75722800-75742200	Weak transcription	HSMMtube	muscle
23	chr15:75723000-75742600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr15:75728800-75741800	Weak transcription	Adipose Nuclei	Adipose
25	chr15:75728800-75742600	Weak transcription	Esophagus	oesophagus
26	chr15:75730800-75742200	Weak transcription	Psoas Muscle	Psoas
27	chr15:75732000-75740800	Strong transcription	Fetal Intestine Small	intestine
28	chr15:75735600-75742200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr15:75735600-75742600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr15:75735800-75742000	Weak transcription	Fetal Brain Female	brain
31	chr15:75735800-75742400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr15:75736000-75742000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:75736000-75742200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:75736000-75742800	Weak transcription	Lung	lung
35	chr15:75736200-75741400	Weak transcription	Liver	Liver
36	chr15:75736200-75741400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr15:75736200-75742000	Weak transcription	Colonic Mucosa	Colon
38	chr15:75736200-75742000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr15:75736200-75742200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr15:75736200-75742200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr15:75736200-75742600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:75736400-75742200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr15:75736600-75741400	Weak transcription	HepG2	liver
44	chr15:75736600-75741400	Weak transcription	HMEC	breast
45	chr15:75736800-75741400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:75736800-75741600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr15:75736800-75741600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:75736800-75741600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:75737000-75742200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr15:75737200-75741800	Weak transcription	NHDF-Ad	bronchial

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