Variant report

Variant	rs3865257
Chromosome Location	chr17:15430422-15430423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11649792	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11651787	0.83[EUR][1000 genomes]
rs11653403	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1465251	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1465252	0.83[EUR][1000 genomes]
rs1988028	0.86[EUR][1000 genomes]
rs28411195	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28733269	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4365325	0.86[AMR][1000 genomes]
rs4572441	0.83[EUR][1000 genomes]
rs55749051	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56407841	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62069953	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62072569	0.83[EUR][1000 genomes]
rs62072571	0.83[EUR][1000 genomes]
rs62072578	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62072579	0.85[EUR][1000 genomes]
rs716389	0.82[EUR][1000 genomes]
rs7211982	0.80[EUR][1000 genomes]
rs8076852	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9903674	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9908651	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9911005	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9911822	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9913509	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv962260	chr17:15428362-15439978	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3865257	AC005517.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15383400-15455000	Weak transcription	Gastric	stomach
2	chr17:15393400-15451200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:15394800-15450800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:15406800-15450600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:15416200-15466000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr17:15417600-15466400	Weak transcription	Ovary	ovary
7	chr17:15418600-15450600	Weak transcription	Brain Angular Gyrus	brain
8	chr17:15418800-15450600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr17:15419600-15442000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr17:15419800-15442400	Weak transcription	Thymus	Thymus
11	chr17:15419800-15448400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:15420000-15441800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr17:15420000-15442000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr17:15420000-15442000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr17:15420000-15442000	Weak transcription	A549	lung
16	chr17:15420000-15448400	Weak transcription	Placenta	Placenta
17	chr17:15420000-15450800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr17:15420200-15442000	Weak transcription	Lung	lung
19	chr17:15420200-15448600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr17:15420400-15435200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr17:15420400-15442000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr17:15420400-15442000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr17:15420400-15442000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr17:15420400-15452800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:15420600-15435600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr17:15420600-15441800	Weak transcription	Fetal Brain Female	brain
27	chr17:15420600-15442000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:15420600-15459600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr17:15420800-15442000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:15420800-15448200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr17:15420800-15448400	Weak transcription	Fetal Muscle Leg	muscle
32	chr17:15420800-15448400	Weak transcription	HSMM	muscle
33	chr17:15420800-15450200	Weak transcription	Brain Germinal Matrix	brain
34	chr17:15421200-15450800	Weak transcription	Fetal Kidney	kidney
35	chr17:15421200-15453000	Weak transcription	Aorta	Aorta
36	chr17:15421800-15435400	Weak transcription	HSMMtube	muscle
37	chr17:15421800-15465600	Weak transcription	Hela-S3	cervix
38	chr17:15422000-15435600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr17:15422200-15441800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr17:15422400-15441800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr17:15422400-15441800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr17:15422400-15442000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:15422400-15447000	Weak transcription	HepG2	liver
44	chr17:15422400-15448400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr17:15422600-15441600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr17:15422800-15441800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:15422800-15465800	Weak transcription	Fetal Intestine Small	intestine
48	chr17:15423000-15442000	Weak transcription	Fetal Stomach	stomach
49	chr17:15423000-15448400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:15423000-15451000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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