Variant report

Variant	rs17696575
Chromosome Location	chr19:52660783-52660784
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	chr19:52659695..52662598-chr19:52663474..52665682,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12460375	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12460432	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12608745	1.00[CHB][hapmap]
rs12609494	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12609518	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12611170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17769264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28838074	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35322037	0.95[ASN][1000 genomes]
rs35777966	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36018306	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58547594	0.86[ASN][1000 genomes]
rs61641512	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs66480428	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66966048	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67606249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67664388	0.80[ASN][1000 genomes]
rs72626251	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	esv2762047	chr19:52647312-52668951	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv817856	chr19:52647893-52668697	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv580007	chr19:52660279-52693277	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52651600-52667200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:52653800-52670600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:52654000-52667200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:52654000-52669000	ZNF genes & repeats	Liver	Liver
5	chr19:52654400-52671600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:52654600-52669200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:52655600-52661000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr19:52655600-52665600	ZNF genes & repeats	Fetal Lung	lung
9	chr19:52656200-52664000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
10	chr19:52656200-52666400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:52656400-52660800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
12	chr19:52656400-52661400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:52656400-52662400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:52656400-52664600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr19:52656400-52665800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr19:52656400-52669000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
17	chr19:52656400-52669200	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr19:52656600-52667000	ZNF genes & repeats	Fetal Brain Female	brain
19	chr19:52656600-52668200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
20	chr19:52656800-52660800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr19:52656800-52661000	ZNF genes & repeats	Fetal Muscle Leg	muscle
22	chr19:52656800-52664600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr19:52656800-52665000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
24	chr19:52656800-52665200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
25	chr19:52656800-52666400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
26	chr19:52656800-52667200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
27	chr19:52656800-52669200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:52657000-52660800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:52657000-52660800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr19:52657000-52663800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
31	chr19:52657000-52666400	ZNF genes & repeats	Dnd41	blood
32	chr19:52657000-52666600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:52657400-52660800	ZNF genes & repeats	Brain Germinal Matrix	brain
34	chr19:52657400-52663000	ZNF genes & repeats	Left Ventricle	heart
35	chr19:52657600-52661000	ZNF genes & repeats	Primary B cells from cord blood	blood
36	chr19:52657800-52660800	ZNF genes & repeats	Brain Angular Gyrus	brain
37	chr19:52657800-52660800	ZNF genes & repeats	Brain Hippocampus Middle	brain
38	chr19:52657800-52660800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
39	chr19:52657800-52661000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
40	chr19:52657800-52661000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:52657800-52661000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
42	chr19:52657800-52661000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr19:52658000-52660800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr19:52658000-52661000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
45	chr19:52658000-52661000	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr19:52658000-52661000	ZNF genes & repeats	Psoas Muscle	Psoas
47	chr19:52658000-52664600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
48	chr19:52658200-52661000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
49	chr19:52658400-52660800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
50	chr19:52658400-52661000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle

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