Variant report

Variant	rs73494012
Chromosome Location	chr13:50674618-50674619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50672721..50675302-chr13:50698038..50700346,2	K562	blood:
2	chr13:50674582..50676260-chr13:50678860..50680465,2	MCF-7	breast:
3	chr13:50653297..50655415-chr13:50674564..50676737,2	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]
rs1056543	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1326121	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1853926	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066560	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066569	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066570	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066577	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066578	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066580	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066582	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066588	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41284812	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41284814	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55937551	0.93[AMR][1000 genomes]
rs56116235	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58584173	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59019111	0.80[AFR][1000 genomes]
rs61623782	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6561574	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7319019	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73491522	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73491532	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494027	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494029	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494031	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74076539	1.00[EUR][1000 genomes]
rs8001223	0.86[AMR][1000 genomes];1.00[EUR][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:83 , 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	chr13:50671600-50676200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:50671600-50689800	Weak transcription	Colonic Mucosa	Colon
11	chr13:50671800-50674800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr13:50672000-50689400	Weak transcription	Right Ventricle	heart
13	chr13:50672400-50675200	ZNF genes & repeats	Dnd41	blood
14	chr13:50673000-50678600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr13:50673000-50680600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr13:50673000-50695600	Weak transcription	Fetal Intestine Large	intestine
17	chr13:50673200-50675000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:50673200-50682600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:50673400-50675000	ZNF genes & repeats	Fetal Thymus	thymus
20	chr13:50673400-50675800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr13:50673600-50675000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr13:50673600-50677600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr13:50673600-50678400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:50673600-50679000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr13:50673600-50679800	Weak transcription	Adipose Nuclei	Adipose
26	chr13:50673600-50680200	Weak transcription	Fetal Heart	heart
27	chr13:50673600-50680600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr13:50673600-50681000	Weak transcription	Fetal Lung	lung
29	chr13:50673600-50688400	Weak transcription	HepG2	liver
30	chr13:50673600-50690400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:50673800-50675000	Enhancers	Primary B cells from peripheral blood	blood
32	chr13:50673800-50676200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr13:50673800-50678000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr13:50673800-50678000	Weak transcription	Right Atrium	heart
35	chr13:50673800-50678200	Weak transcription	Primary T cells from cord blood	blood
36	chr13:50673800-50678600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr13:50673800-50678600	Weak transcription	Osteobl	bone
38	chr13:50673800-50679000	Weak transcription	NH-A	brain
39	chr13:50673800-50680600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr13:50673800-50680600	Weak transcription	Brain Substantia Nigra	brain
41	chr13:50673800-50681000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr13:50673800-50693800	Weak transcription	K562	blood
43	chr13:50673800-50697600	Weak transcription	HSMM	muscle
44	chr13:50674000-50674800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr13:50674000-50674800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr13:50674000-50674800	Weak transcription	Pancreas	Pancrea
47	chr13:50674000-50674800	Weak transcription	NHLF	lung
48	chr13:50674000-50675000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr13:50674000-50676600	Weak transcription	Spleen	Spleen
50	chr13:50674000-50677200	Weak transcription	Primary B cells from cord blood	blood

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