Variant report

Variant	rs58524683
Chromosome Location	chr17:19863199-19863200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19861980..19864455-chr17:19872126..19874970,2	K562	blood:
2	chr17:19861091..19865827-chr17:19879221..19882528,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108599	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56178618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57853272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59395638	1.00[AMR][1000 genomes]
rs59704385	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7215558	0.86[AFR][1000 genomes]
rs7221750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980725	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980727	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980759	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980789	0.97[AFR][1000 genomes]
rs73980794	1.00[AFR][1000 genomes]
rs73984562	0.88[AFR][1000 genomes]
rs8064839	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8066256	0.94[AFR][1000 genomes]
rs8073950	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8082216	0.94[AFR][1000 genomes];1.00[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	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19840000-19879200	Weak transcription	Fetal Brain Male	brain
2	chr17:19846800-19875600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:19850600-19879200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr17:19850600-19880200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:19850600-19880200	Weak transcription	Aorta	Aorta
6	chr17:19851600-19871600	Weak transcription	Colonic Mucosa	Colon
7	chr17:19852000-19871000	Weak transcription	Small Intestine	intestine
8	chr17:19852200-19865000	Weak transcription	Ovary	ovary
9	chr17:19852200-19866000	Weak transcription	Spleen	Spleen
10	chr17:19852200-19879400	Weak transcription	Esophagus	oesophagus
11	chr17:19852200-19879600	Weak transcription	Right Ventricle	heart
12	chr17:19852200-19880000	Weak transcription	Psoas Muscle	Psoas
13	chr17:19852800-19869800	Weak transcription	Fetal Heart	heart
14	chr17:19854400-19864000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:19857000-19868800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:19857200-19866400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:19857200-19867000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr17:19857200-19875000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr17:19857400-19873800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr17:19857400-19880400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:19857600-19866600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:19857600-19874000	Strong transcription	Dnd41	blood
23	chr17:19857600-19874400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:19857600-19875200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr17:19857600-19880200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr17:19857800-19866600	Strong transcription	Fetal Intestine Large	intestine
27	chr17:19858000-19866400	Strong transcription	Fetal Stomach	stomach
28	chr17:19858200-19867200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr17:19858400-19865600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr17:19858400-19873600	Strong transcription	Duodenum Mucosa	Duodenum
31	chr17:19858600-19865800	Strong transcription	Adipose Nuclei	Adipose
32	chr17:19858600-19874400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr17:19858600-19875800	Strong transcription	Primary B cells from cord blood	blood
34	chr17:19859000-19877200	Strong transcription	Fetal Thymus	thymus
35	chr17:19859200-19866600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:19859200-19870800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr17:19859200-19874400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr17:19859200-19875600	Strong transcription	Placenta	Placenta
39	chr17:19859200-19878600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr17:19859600-19866000	Strong transcription	Fetal Lung	lung
41	chr17:19859600-19876800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr17:19859800-19866400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr17:19859800-19866600	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr17:19859800-19879400	Weak transcription	Brain Angular Gyrus	brain
45	chr17:19860200-19866600	Strong transcription	Liver	Liver
46	chr17:19860800-19863800	Weak transcription	Fetal Intestine Small	intestine
47	chr17:19860800-19864200	Weak transcription	Lung	lung
48	chr17:19861000-19863600	Strong transcription	Primary hematopoietic stem cells	blood
49	chr17:19861000-19866400	Strong transcription	Thymus	Thymus
50	chr17:19861000-19875600	Strong transcription	Rectal Mucosa Donor 29	rectum

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