Variant report

Variant	rs4886994
Chromosome Location	chr15:78332786-78332787
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78332545..78335150-chr15:78348925..78351809,2	MCF-7	breast:
2	chr15:78331100..78333926-chr15:78382964..78385819,2	K562	blood:

Variant related genes	Relation type
ENSG00000199633	Chromatin interaction
ENSG00000183476	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1004855	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11631578	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11634607	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11638311	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11852768	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12148365	0.86[ASN][1000 genomes]
rs12591418	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12594823	0.88[ASN][1000 genomes]
rs12899061	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12901812	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12907701	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12907814	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12911332	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12916362	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1348257	0.86[ASN][1000 genomes]
rs1442293	0.85[ASN][1000 genomes]
rs1837913	0.85[ASN][1000 genomes]
rs2028546	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2044099	0.93[ASN][1000 genomes]
rs2241885	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2867985	0.85[ASN][1000 genomes]
rs2903702	0.87[ASN][1000 genomes]
rs3803380	0.82[ASN][1000 genomes]
rs4886553	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4886554	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4886555	0.84[ASN][1000 genomes]
rs4886996	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4886999	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4887000	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs55704745	0.90[ASN][1000 genomes]
rs56317829	0.82[ASN][1000 genomes]
rs57220134	0.85[ASN][1000 genomes]
rs58578288	0.86[ASN][1000 genomes]
rs62011511	0.86[ASN][1000 genomes]
rs7166819	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7170746	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7173128	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7174489	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7181594	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8029562	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8030713	0.83[ASN][1000 genomes]
rs8030873	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9047	0.84[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	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1051558	chr15:78315542-78364947	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78296200-78358200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr15:78301400-78342200	Weak transcription	HMEC	breast
3	chr15:78303200-78342400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:78307200-78342000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:78309200-78354200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr15:78317000-78344400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr15:78317400-78342600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr15:78317800-78344400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr15:78317800-78344400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:78320200-78334400	Weak transcription	Aorta	Aorta
11	chr15:78321200-78343800	Weak transcription	NHEK	skin
12	chr15:78322200-78336600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:78322200-78341000	Weak transcription	Brain Germinal Matrix	brain
14	chr15:78322400-78336600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr15:78324600-78334400	Weak transcription	Ovary	ovary
16	chr15:78325600-78337800	Genic enhancers	Fetal Thymus	thymus
17	chr15:78325800-78333600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr15:78326200-78332800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:78327400-78339600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:78327600-78333600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr15:78327600-78351400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr15:78327800-78342000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr15:78328000-78334600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:78328000-78335400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr15:78328000-78336600	Weak transcription	Fetal Brain Female	brain
26	chr15:78328000-78336800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr15:78328000-78341800	Weak transcription	Fetal Brain Male	brain
28	chr15:78328200-78334200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:78328400-78333000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:78328400-78333400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr15:78328400-78333800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr15:78328400-78334000	Weak transcription	Osteobl	bone
33	chr15:78328400-78334200	Weak transcription	NHLF	lung
34	chr15:78328400-78334800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:78328400-78339000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:78328400-78342200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:78328600-78333200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr15:78328600-78333200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr15:78328600-78334200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:78328600-78334600	Weak transcription	Fetal Kidney	kidney
41	chr15:78328600-78336400	Weak transcription	NH-A	brain
42	chr15:78328600-78342200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:78329000-78342400	Weak transcription	Fetal Heart	heart
44	chr15:78329400-78336200	Weak transcription	Colon Smooth Muscle	Colon
45	chr15:78329600-78332800	Genic enhancers	Adipose Nuclei	Adipose
46	chr15:78329600-78339000	Weak transcription	Stomach Mucosa	stomach
47	chr15:78330200-78332800	Strong transcription	HSMMtube	muscle
48	chr15:78330200-78333000	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr15:78330400-78332800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:78330400-78332800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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