Variant report

Variant	rs3971703
Chromosome Location	chr15:79092481-79092482
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10851911	0.83[EUR][1000 genomes]
rs11630027	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12905740	0.85[EUR][1000 genomes]
rs1383636	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1564499	0.89[EUR][1000 genomes]
rs1976007	0.85[EUR][1000 genomes]
rs1994017	0.85[EUR][1000 genomes]
rs28542482	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2904228	0.91[EUR][1000 genomes]
rs3743057	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7182809	0.93[ASN][1000 genomes]
rs7183621	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8029039	0.92[EUR][1000 genomes]
rs8038189	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8042170	0.95[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs922693	0.94[AFR][1000 genomes];0.89[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	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
5	esv3326516	chr15:79090897-79093445	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 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	chr15:79077200-79096600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:79078200-79093200	Strong transcription	Fetal Stomach	stomach
6	chr15:79080400-79096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:79080800-79095200	Weak transcription	Fetal Intestine Large	intestine
8	chr15:79082800-79096200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr15:79082800-79102200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:79083200-79102000	Weak transcription	Fetal Heart	heart
11	chr15:79083800-79102400	Weak transcription	Aorta	Aorta
12	chr15:79088200-79094000	Weak transcription	Lung	lung
13	chr15:79088200-79096800	Weak transcription	Brain Angular Gyrus	brain
14	chr15:79088600-79093400	Weak transcription	Spleen	Spleen
15	chr15:79088600-79096400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:79088800-79102600	Weak transcription	Ovary	ovary
17	chr15:79089400-79096000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr15:79090000-79096400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:79090200-79096400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr15:79090200-79101000	Weak transcription	Fetal Lung	lung
21	chr15:79090200-79101000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr15:79090400-79095600	Weak transcription	Fetal Intestine Small	intestine
23	chr15:79090400-79096200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr15:79090400-79096200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:79090400-79096200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr15:79090400-79096400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr15:79090400-79096400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:79090400-79096800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:79090600-79095000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr15:79090600-79096200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:79090600-79096400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:79090600-79097000	Weak transcription	Brain Germinal Matrix	brain
33	chr15:79090800-79094000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:79090800-79095800	Weak transcription	HSMMtube	muscle
35	chr15:79090800-79096800	Weak transcription	Left Ventricle	heart
36	chr15:79090800-79101000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:79090800-79101400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:79090800-79101400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr15:79090800-79102200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:79091000-79092600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:79091200-79093400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr15:79091200-79095600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:79091200-79096000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr15:79091200-79098800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr15:79091200-79101400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:79091200-79101400	Weak transcription	Fetal Muscle Leg	muscle
47	chr15:79091200-79101600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:79091200-79101800	Weak transcription	Right Atrium	heart
49	chr15:79091200-79102200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:79091200-79102200	Weak transcription	Osteobl	bone

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