Variant report

Variant	rs17073758
Chromosome Location	chr13:50673781-50673782
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	chr13:50672721..50675302-chr13:50698038..50700346,2	K562	blood:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12429041	0.87[EUR][1000 genomes]
rs12429047	0.91[EUR][1000 genomes]
rs12430021	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12430731	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12584761	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12585937	0.85[EUR][1000 genomes]
rs1609571	0.91[EUR][1000 genomes]
rs2897794	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4142286	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4942896	0.91[EUR][1000 genomes]
rs4942898	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4942903	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs706610	0.84[ASN][1000 genomes]
rs7983585	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs809845	0.83[ASN][1000 genomes]
rs9562940	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9562941	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9562944	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9562951	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9568348	0.85[EUR][1000 genomes]
rs9568351	0.91[EUR][1000 genomes]
rs9568353	0.93[EUR][1000 genomes]
rs9568359	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9568361	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9568365	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9568371	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9568379	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50658000-50697200	Weak transcription	HSMMtube	muscle
2	chr13:50659800-50681600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:50659800-50697200	Weak transcription	Hela-S3	cervix
4	chr13:50666400-50680200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr13:50666400-50680400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr13:50666600-50680000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr13:50667600-50674800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr13:50669200-50678800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:50670800-50673800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:50671600-50674400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr13:50671600-50676200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:50671600-50689800	Weak transcription	Colonic Mucosa	Colon
13	chr13:50671800-50674000	ZNF genes & repeats	Primary B cells from cord blood	blood
14	chr13:50671800-50674800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr13:50672000-50689400	Weak transcription	Right Ventricle	heart
16	chr13:50672200-50673800	ZNF genes & repeats	K562	blood
17	chr13:50672200-50674000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:50672200-50674000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr13:50672200-50674000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
20	chr13:50672400-50673800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr13:50672400-50673800	ZNF genes & repeats	A549	lung
22	chr13:50672400-50674600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:50672400-50675200	ZNF genes & repeats	Dnd41	blood
24	chr13:50672600-50673800	ZNF genes & repeats	Osteobl	bone
25	chr13:50673000-50673800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr13:50673000-50673800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
27	chr13:50673000-50673800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
28	chr13:50673000-50674000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:50673000-50678600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr13:50673000-50680600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr13:50673000-50695600	Weak transcription	Fetal Intestine Large	intestine
32	chr13:50673200-50673800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr13:50673200-50674000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr13:50673200-50674000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr13:50673200-50674000	ZNF genes & repeats	Brain Germinal Matrix	brain
36	chr13:50673200-50674000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr13:50673200-50674000	ZNF genes & repeats	NHEK	skin
38	chr13:50673200-50675000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr13:50673200-50682600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:50673400-50673800	ZNF genes & repeats	Primary T cells from cord blood	blood
41	chr13:50673400-50673800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
42	chr13:50673400-50673800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr13:50673400-50673800	ZNF genes & repeats	Fetal Brain Male	brain
44	chr13:50673400-50673800	Enhancers	Right Atrium	heart
45	chr13:50673400-50673800	Strong transcription	Spleen	Spleen
46	chr13:50673400-50673800	ZNF genes & repeats	HSMM	muscle
47	chr13:50673400-50673800	ZNF genes & repeats	NH-A	brain
48	chr13:50673400-50674000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr13:50673400-50674000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr13:50673400-50674000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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