Variant report

Variant	rs1994017
Chromosome Location	chr15:79080306-79080307
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	chr15:79079898..79081980-chr15:79170465..79172653,2	K562	blood:

Variant related genes	Relation type
ENSG00000185787	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10851911	0.95[EUR][1000 genomes]
rs11630027	0.88[EUR][1000 genomes]
rs12905740	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383636	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs1564499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1976007	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2046144	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28542482	0.87[EUR][1000 genomes]
rs2904228	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs3743057	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3971703	0.85[EUR][1000 genomes]
rs4886982	0.85[YRI][hapmap]
rs6495328	0.83[YRI][hapmap]
rs7183621	0.82[EUR][1000 genomes]
rs8029039	0.87[EUR][1000 genomes]
rs8038189	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs8042170	0.89[EUR][1000 genomes]
rs922693	1.00[CEU][hapmap];0.82[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	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv904431	chr15:79006442-79155088	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv977739	chr15:79062099-79080757	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv904432	chr15:79066932-79175813	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79054000-79083200	Weak transcription	Fetal Intestine Small	intestine
2	chr15:79058000-79090000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr15:79061600-79080400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:79069200-79090200	Weak transcription	NHDF-Ad	bronchial
5	chr15:79072000-79096600	Weak transcription	Brain Substantia Nigra	brain
6	chr15:79072000-79096800	Weak transcription	Colon Smooth Muscle	Colon
7	chr15:79072200-79082000	Weak transcription	Right Atrium	heart
8	chr15:79072800-79082000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:79072800-79089800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr15:79072800-79102400	Weak transcription	Fetal Kidney	kidney
11	chr15:79074800-79083000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:79075600-79082200	Weak transcription	Fetal Brain Male	brain
13	chr15:79076400-79090400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:79076400-79090400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:79076400-79090800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:79077200-79081400	Strong transcription	Fetal Lung	lung
17	chr15:79077200-79084800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:79077200-79085200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:79077200-79089800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:79077200-79096600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:79077400-79089000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr15:79077600-79084200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:79077600-79087800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:79077800-79090600	Strong transcription	Brain Germinal Matrix	brain
25	chr15:79078000-79083000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr15:79078000-79083400	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr15:79078000-79084000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:79078000-79084200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr15:79078000-79089400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:79078200-79093200	Strong transcription	Fetal Stomach	stomach
31	chr15:79078400-79085000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:79078400-79091800	Weak transcription	Gastric	stomach
33	chr15:79078600-79080400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
34	chr15:79078600-79080600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr15:79078600-79082000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:79078600-79083600	Strong transcription	Ovary	ovary
37	chr15:79078600-79084000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr15:79078600-79084000	Strong transcription	Adipose Nuclei	Adipose
39	chr15:79078600-79084600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr15:79078600-79084800	Strong transcription	Fetal Muscle Leg	muscle
41	chr15:79078600-79085000	Strong transcription	HSMMtube	muscle
42	chr15:79078600-79089800	Weak transcription	HMEC	breast
43	chr15:79078600-79090600	Strong transcription	Fetal Brain Female	brain
44	chr15:79078800-79080800	Strong transcription	Stomach Smooth Muscle	stomach
45	chr15:79078800-79081000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr15:79078800-79081000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:79078800-79082000	Strong transcription	Left Ventricle	heart
48	chr15:79079000-79089600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:79079200-79082000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr15:79079400-79091000	Weak transcription	HUVEC	blood vessel

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