Variant report

Variant	rs17650599
Chromosome Location	chr5:16582360-16582361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16577676..16580941-chr5:16582189..16586155,5	K562	blood:
2	chr5:16581461..16583771-chr5:16590436..16593206,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs173963	1.00[ASN][1000 genomes]
rs173972	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17650584	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17650706	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17707133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2447809	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2447810	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2447811	0.91[ASN][1000 genomes]
rs2447812	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2447813	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2447815	0.97[ASN][1000 genomes]
rs2447816	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2447817	1.00[ASN][1000 genomes]
rs2447818	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2451848	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2451849	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2451850	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2451852	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2451853	0.97[ASN][1000 genomes]
rs2451854	0.97[ASN][1000 genomes]
rs2451855	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2451856	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2560825	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs256878	1.00[ASN][1000 genomes]
rs2617419	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2927607	1.00[CHB][hapmap]
rs398274	0.97[ASN][1000 genomes]
rs431154	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs448021	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs604535	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62369751	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62371267	0.86[EUR][1000 genomes]
rs62371269	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62371271	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881187	chr5:16514269-16654960	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16543200-16591600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:16543600-16589800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:16571400-16587200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr5:16571400-16588200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:16573800-16585200	Weak transcription	Pancreas	Pancrea
6	chr5:16574200-16585200	Weak transcription	Fetal Intestine Small	intestine
7	chr5:16574800-16583000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:16574800-16589800	Weak transcription	Thymus	Thymus
9	chr5:16575000-16588000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:16575200-16585800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr5:16575600-16591600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:16575800-16583000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr5:16575800-16587600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:16576000-16587200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr5:16578400-16606800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:16578600-16582400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr5:16579000-16582800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:16579000-16583000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:16579200-16584000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:16579200-16586800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:16579400-16582600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:16579400-16584200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:16579400-16593200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:16579600-16585400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:16581000-16585200	Weak transcription	Liver	Liver
26	chr5:16581000-16598400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:16581200-16588600	Weak transcription	Fetal Heart	heart
28	chr5:16581400-16585400	Weak transcription	Brain Anterior Caudate	brain
29	chr5:16581400-16587000	Weak transcription	Primary T cells from cord blood	blood
30	chr5:16581400-16593200	Weak transcription	Right Ventricle	heart
31	chr5:16581400-16596000	Weak transcription	Fetal Brain Female	brain
32	chr5:16581600-16582600	Weak transcription	Right Atrium	heart
33	chr5:16581600-16582600	Enhancers	NHEK	skin
34	chr5:16581600-16582800	Enhancers	HMEC	breast
35	chr5:16581600-16583200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr5:16581600-16584000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:16581600-16585200	Weak transcription	Left Ventricle	heart
38	chr5:16581600-16585600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:16581600-16585800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:16581800-16582600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:16581800-16582800	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:16581800-16583200	Weak transcription	Brain Substantia Nigra	brain
43	chr5:16581800-16585400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:16581800-16585400	Weak transcription	Brain Angular Gyrus	brain
45	chr5:16582000-16582800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:16582200-16582400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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