Variant report

Variant	rs8074456
Chromosome Location	chr17:15425611-15425612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10153259	0.89[JPT][hapmap]
rs12450921	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12451284	0.91[EUR][1000 genomes]
rs12939314	0.89[JPT][hapmap]
rs12943480	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12948266	1.00[JPT][hapmap]
rs16940991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17702522	1.00[JPT][hapmap]
rs17702771	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2532479	0.90[EUR][1000 genomes]
rs2654261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3852809	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3911955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4054418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs4791625	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4792619	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6502459	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6502461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6502462	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs716388	1.00[JPT][hapmap]
rs7226342	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7359507	0.86[EUR][1000 genomes]
rs8064461	0.83[AMR][1000 genomes]
rs8068610	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8070714	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8071082	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs917567	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8074456	AC005517.3	cis	Thyroid	GTEx

Chromatin state (count:83 , 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	chr17:15406600-15428800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr17:15406800-15450600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:15410200-15426200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr17:15410800-15429000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:15413800-15428000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr17:15414000-15429000	Weak transcription	Fetal Heart	heart
10	chr17:15414000-15430200	Weak transcription	Right Ventricle	heart
11	chr17:15414600-15428000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr17:15416200-15466000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr17:15417600-15427200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr17:15417600-15466400	Weak transcription	Ovary	ovary
15	chr17:15417800-15428200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:15418000-15429200	Weak transcription	Colon Smooth Muscle	Colon
17	chr17:15418400-15430000	Weak transcription	K562	blood
18	chr17:15418400-15430200	Weak transcription	Pancreas	Pancrea
19	chr17:15418600-15429600	Weak transcription	Brain Substantia Nigra	brain
20	chr17:15418600-15450600	Weak transcription	Brain Angular Gyrus	brain
21	chr17:15418800-15450600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr17:15419600-15442000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr17:15419800-15442400	Weak transcription	Thymus	Thymus
24	chr17:15419800-15448400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr17:15420000-15428200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr17:15420000-15428800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr17:15420000-15428800	Weak transcription	Fetal Lung	lung
28	chr17:15420000-15429600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr17:15420000-15429800	Weak transcription	Brain Anterior Caudate	brain
30	chr17:15420000-15441800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr17:15420000-15442000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr17:15420000-15442000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr17:15420000-15442000	Weak transcription	A549	lung
34	chr17:15420000-15448400	Weak transcription	Placenta	Placenta
35	chr17:15420000-15450800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr17:15420200-15428600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr17:15420200-15442000	Weak transcription	Lung	lung
38	chr17:15420200-15448600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr17:15420400-15428200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:15420400-15429000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr17:15420400-15435200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr17:15420400-15442000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr17:15420400-15442000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr17:15420400-15442000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr17:15420400-15452800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr17:15420600-15435600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr17:15420600-15441800	Weak transcription	Fetal Brain Female	brain
48	chr17:15420600-15442000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr17:15420600-15459600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr17:15420800-15442000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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