Variant report

Variant	rs3743056
Chromosome Location	chr15:79090204-79090205
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	chr15:79086760..79090463-chr15:79101047..79102921,3	K562	blood:

Variant related genes	Relation type
ENSG00000185787	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12900168	0.88[JPT][hapmap]
rs1383636	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs1564500	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970103	1.00[ASW][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3743057	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs3743072	1.00[GIH][hapmap]
rs3784321	0.81[ASN][1000 genomes]
rs3784323	1.00[CHB][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs59275951	0.86[ASN][1000 genomes]
rs7171916	0.88[JPT][hapmap]
rs7182809	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs8038189	0.85[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs8041974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79072000-79096600	Weak transcription	Brain Substantia Nigra	brain
2	chr15:79072000-79096800	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:79072800-79102400	Weak transcription	Fetal Kidney	kidney
4	chr15:79076400-79090400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:79076400-79090400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:79076400-79090800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:79077200-79096600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:79077800-79090600	Strong transcription	Brain Germinal Matrix	brain
9	chr15:79078200-79093200	Strong transcription	Fetal Stomach	stomach
10	chr15:79078400-79091800	Weak transcription	Gastric	stomach
11	chr15:79078600-79090600	Strong transcription	Fetal Brain Female	brain
12	chr15:79079400-79091000	Weak transcription	HUVEC	blood vessel
13	chr15:79079600-79090600	Weak transcription	NH-A	brain
14	chr15:79080400-79096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr15:79080800-79095200	Weak transcription	Fetal Intestine Large	intestine
16	chr15:79082800-79096200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:79082800-79102200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:79083200-79102000	Weak transcription	Fetal Heart	heart
19	chr15:79083800-79102400	Weak transcription	Aorta	Aorta
20	chr15:79085800-79090800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:79086000-79090400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr15:79086000-79091000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:79086200-79091400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr15:79087000-79090600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr15:79087400-79090400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr15:79087400-79090400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr15:79087600-79090400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:79087600-79090600	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr15:79087600-79090600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr15:79087800-79090400	Strong transcription	Fetal Intestine Small	intestine
31	chr15:79088200-79094000	Weak transcription	Lung	lung
32	chr15:79088200-79096800	Weak transcription	Brain Angular Gyrus	brain
33	chr15:79088600-79090400	Weak transcription	Osteobl	bone
34	chr15:79088600-79090800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:79088600-79093400	Weak transcription	Spleen	Spleen
36	chr15:79088600-79096400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:79088800-79102600	Weak transcription	Ovary	ovary
38	chr15:79089000-79090600	Genic enhancers	Right Ventricle	heart
39	chr15:79089200-79091200	Enhancers	Hela-S3	cervix
40	chr15:79089400-79090400	Genic enhancers	HSMMtube	muscle
41	chr15:79089400-79096000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr15:79089600-79090400	Transcr. at gene 5' and 3'	HSMM	muscle
43	chr15:79089600-79090800	Enhancers	Left Ventricle	heart
44	chr15:79089600-79091200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:79089600-79091400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:79089800-79090600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:79089800-79090600	Genic enhancers	Muscle Satellite Cultured Cells	--
48	chr15:79089800-79091000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr15:79089800-79091200	Enhancers	HMEC	breast
50	chr15:79090000-79090400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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