Variant report

Variant	rs8074918
Chromosome Location	chr17:15419908-15419909
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12325699	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12325794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12325796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6502451	0.82[YRI][hapmap]
rs6502452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6502453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6502454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6502455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6502456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7207056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7207202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7207218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7207233	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7207567	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7208444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7211746	1.00[AMR][1000 genomes]
rs7212864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7213647	1.00[AMR][1000 genomes]
rs7215176	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7217462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7219578	1.00[AMR][1000 genomes]
rs7226038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7226319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8064272	1.00[AMR][1000 genomes]
rs8064369	1.00[AMR][1000 genomes]
rs8064896	0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8071393	0.89[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8072242	1.00[AMR][1000 genomes]
rs8081114	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs9674575	1.00[AMR][1000 genomes]
rs9674638	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

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	chr17:15396800-15420400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr17:15401200-15420400	Weak transcription	Psoas Muscle	Psoas
6	chr17:15406200-15420600	Weak transcription	Colonic Mucosa	Colon
7	chr17:15406600-15422800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr17:15406600-15428800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr17:15406800-15420200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr17:15406800-15421800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr17:15406800-15422000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:15406800-15450600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:15407000-15422400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr17:15410200-15426200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr17:15410800-15429000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:15413200-15420000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:15413800-15428000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr17:15414000-15429000	Weak transcription	Fetal Heart	heart
19	chr17:15414000-15430200	Weak transcription	Right Ventricle	heart
20	chr17:15414400-15421000	Weak transcription	Left Ventricle	heart
21	chr17:15414600-15422200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr17:15414600-15428000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr17:15415200-15422400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr17:15415200-15422600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr17:15415400-15420000	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr17:15415400-15422400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr17:15416200-15420000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:15416200-15466000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr17:15416400-15420400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:15416400-15421800	Strong transcription	Hela-S3	cervix
31	chr17:15416800-15420400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr17:15417000-15420000	Strong transcription	Primary hematopoietic stem cells	blood
33	chr17:15417000-15420400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:15417000-15420400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr17:15417000-15420800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr17:15417000-15422000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr17:15417000-15422200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr17:15417200-15420600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr17:15417200-15421200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr17:15417400-15421600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr17:15417400-15422000	Strong transcription	Primary T cells from cord blood	blood
42	chr17:15417400-15422200	Weak transcription	Small Intestine	intestine
43	chr17:15417600-15427200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr17:15417600-15466400	Weak transcription	Ovary	ovary
45	chr17:15417800-15420200	Enhancers	HUVEC	blood vessel
46	chr17:15417800-15428200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr17:15418000-15420200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr17:15418000-15420200	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr17:15418000-15420400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:15418000-15420600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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