Variant report

Variant	rs71367507
Chromosome Location	chr17:15429015-15429016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10153259	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12450262	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12450302	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12452965	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12453059	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12453117	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12938444	0.93[ASN][1000 genomes]
rs12948266	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12953212	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17702522	0.93[ASN][1000 genomes]
rs17702771	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2013835	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34236889	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34358805	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34453320	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34818581	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35078459	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35406616	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35448233	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35699886	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36097878	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3852809	0.81[ASN][1000 genomes]
rs3911955	0.81[ASN][1000 genomes]
rs4791625	0.81[ASN][1000 genomes]
rs4792619	0.81[ASN][1000 genomes]
rs6502459	0.81[ASN][1000 genomes]
rs71367505	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs716388	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7359511	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][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

No data

Chromatin state (count:82 , 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	chr17:15414000-15430200	Weak transcription	Right Ventricle	heart
6	chr17:15416200-15466000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr17:15417600-15466400	Weak transcription	Ovary	ovary
8	chr17:15418000-15429200	Weak transcription	Colon Smooth Muscle	Colon
9	chr17:15418400-15430000	Weak transcription	K562	blood
10	chr17:15418400-15430200	Weak transcription	Pancreas	Pancrea
11	chr17:15418600-15429600	Weak transcription	Brain Substantia Nigra	brain
12	chr17:15418600-15450600	Weak transcription	Brain Angular Gyrus	brain
13	chr17:15418800-15450600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr17:15419600-15442000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr17:15419800-15442400	Weak transcription	Thymus	Thymus
16	chr17:15419800-15448400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr17:15420000-15429600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr17:15420000-15429800	Weak transcription	Brain Anterior Caudate	brain
19	chr17:15420000-15441800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr17:15420000-15442000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr17:15420000-15442000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr17:15420000-15442000	Weak transcription	A549	lung
23	chr17:15420000-15448400	Weak transcription	Placenta	Placenta
24	chr17:15420000-15450800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr17:15420200-15442000	Weak transcription	Lung	lung
26	chr17:15420200-15448600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr17:15420400-15435200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr17:15420400-15442000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr17:15420400-15442000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr17:15420400-15442000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:15420400-15452800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:15420600-15435600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr17:15420600-15441800	Weak transcription	Fetal Brain Female	brain
34	chr17:15420600-15442000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr17:15420600-15459600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr17:15420800-15442000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:15420800-15448200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr17:15420800-15448400	Weak transcription	Fetal Muscle Leg	muscle
39	chr17:15420800-15448400	Weak transcription	HSMM	muscle
40	chr17:15420800-15450200	Weak transcription	Brain Germinal Matrix	brain
41	chr17:15421000-15429600	Weak transcription	Brain Hippocampus Middle	brain
42	chr17:15421200-15450800	Weak transcription	Fetal Kidney	kidney
43	chr17:15421200-15453000	Weak transcription	Aorta	Aorta
44	chr17:15421800-15435400	Weak transcription	HSMMtube	muscle
45	chr17:15421800-15465600	Weak transcription	Hela-S3	cervix
46	chr17:15422000-15435600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr17:15422200-15441800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr17:15422400-15441800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr17:15422400-15441800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr17:15422400-15442000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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