Variant report

Variant	rs9900160
Chromosome Location	chr17:19675013-19675014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1585751	1.00[EUR][1000 genomes]
rs16960503	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs205111	0.91[AFR][1000 genomes]
rs28491526	0.83[AMR][1000 genomes]
rs28632080	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28661916	1.00[EUR][1000 genomes]
rs3744692	1.00[EUR][1000 genomes]
rs3744694	1.00[EUR][1000 genomes]
rs3760488	1.00[EUR][1000 genomes]
rs3786037	1.00[EUR][1000 genomes]
rs4646783	1.00[EUR][1000 genomes]
rs56407718	1.00[EUR][1000 genomes]
rs56705977	1.00[EUR][1000 genomes]
rs7216958	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8066134	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8068565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9890667	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9891047	0.83[AMR][1000 genomes]
rs9893138	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9894723	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9898591	0.83[AMR][1000 genomes]
rs9899365	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9905570	1.00[AMR][1000 genomes]
rs9906263	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv907866	chr17:19582533-19697976	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv907867	chr17:19603060-19697976	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1061489	chr17:19654704-19705026	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19666000-19676400	Weak transcription	Fetal Intestine Large	intestine
2	chr17:19666000-19676800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr17:19666000-19676800	Weak transcription	Fetal Lung	lung
4	chr17:19666000-19677000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr17:19666000-19678200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr17:19666000-19678600	Weak transcription	Left Ventricle	heart
7	chr17:19666000-19678800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:19666000-19679200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr17:19666000-19691200	Weak transcription	Spleen	Spleen
10	chr17:19666000-19691800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr17:19666200-19676800	Weak transcription	Gastric	stomach
12	chr17:19666400-19675200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr17:19669600-19677800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr17:19670200-19675200	Weak transcription	Right Atrium	heart
15	chr17:19670200-19677000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr17:19670200-19678400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr17:19670200-19679200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr17:19670200-19679400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr17:19670200-19694200	Weak transcription	Right Ventricle	heart
20	chr17:19670200-19699400	Weak transcription	Psoas Muscle	Psoas
21	chr17:19670400-19675200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr17:19670400-19678200	Weak transcription	Placenta	Placenta
23	chr17:19670400-19679000	Weak transcription	Colon Smooth Muscle	Colon
24	chr17:19670400-19683800	Weak transcription	Fetal Brain Male	brain
25	chr17:19670600-19677200	Weak transcription	Liver	Liver
26	chr17:19670600-19678000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr17:19670600-19679200	Weak transcription	Pancreas	Pancrea
28	chr17:19670600-19679200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr17:19672000-19676800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr17:19672000-19679000	Weak transcription	Ovary	ovary
31	chr17:19672000-19679200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr17:19672200-19679200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr17:19672600-19678800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr17:19672800-19675200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr17:19672800-19675600	Enhancers	GM12878-XiMat	blood
36	chr17:19672800-19676800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr17:19672800-19676800	Strong transcription	Brain Germinal Matrix	brain
38	chr17:19673200-19676400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr17:19673400-19675200	Strong transcription	Fetal Muscle Leg	muscle
40	chr17:19673400-19675600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:19673400-19682200	Strong transcription	Fetal Brain Female	brain
42	chr17:19673600-19675200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr17:19673600-19675400	Strong transcription	Brain Angular Gyrus	brain
44	chr17:19673600-19675600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:19673600-19677000	Weak transcription	NHEK	skin
46	chr17:19673600-19677200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr17:19673600-19677400	Strong transcription	Fetal Stomach	stomach
48	chr17:19673800-19675400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr17:19673800-19675600	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr17:19673800-19676400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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