Variant report

Variant	rs57993987
Chromosome Location	chr17:15429425-15429426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73289519	0.86[AFR][1000 genomes]
rs73289541	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73289553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8064560	1.00[AMR][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:80 , 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	chr17:15418400-15430000	Weak transcription	K562	blood
9	chr17:15418400-15430200	Weak transcription	Pancreas	Pancrea
10	chr17:15418600-15429600	Weak transcription	Brain Substantia Nigra	brain
11	chr17:15418600-15450600	Weak transcription	Brain Angular Gyrus	brain
12	chr17:15418800-15450600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr17:15419600-15442000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr17:15419800-15442400	Weak transcription	Thymus	Thymus
15	chr17:15419800-15448400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr17:15420000-15429600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr17:15420000-15429800	Weak transcription	Brain Anterior Caudate	brain
18	chr17:15420000-15441800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr17:15420000-15442000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr17:15420000-15442000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr17:15420000-15442000	Weak transcription	A549	lung
22	chr17:15420000-15448400	Weak transcription	Placenta	Placenta
23	chr17:15420000-15450800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr17:15420200-15442000	Weak transcription	Lung	lung
25	chr17:15420200-15448600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr17:15420400-15435200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr17:15420400-15442000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr17:15420400-15442000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr17:15420400-15442000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:15420400-15452800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:15420600-15435600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr17:15420600-15441800	Weak transcription	Fetal Brain Female	brain
33	chr17:15420600-15442000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr17:15420600-15459600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr17:15420800-15442000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:15420800-15448200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr17:15420800-15448400	Weak transcription	Fetal Muscle Leg	muscle
38	chr17:15420800-15448400	Weak transcription	HSMM	muscle
39	chr17:15420800-15450200	Weak transcription	Brain Germinal Matrix	brain
40	chr17:15421000-15429600	Weak transcription	Brain Hippocampus Middle	brain
41	chr17:15421200-15450800	Weak transcription	Fetal Kidney	kidney
42	chr17:15421200-15453000	Weak transcription	Aorta	Aorta
43	chr17:15421800-15435400	Weak transcription	HSMMtube	muscle
44	chr17:15421800-15465600	Weak transcription	Hela-S3	cervix
45	chr17:15422000-15435600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr17:15422200-15441800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr17:15422400-15441800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr17:15422400-15441800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr17:15422400-15442000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr17:15422400-15447000	Weak transcription	HepG2	liver

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