Variant report

Variant	rs73196756
Chromosome Location	chr13:50674171-50674172
allele	A/T
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: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs35754457	1.00[AMR][1000 genomes]
rs56277884	1.00[AMR][1000 genomes]
rs57140244	1.00[AMR][1000 genomes]
rs57519384	1.00[AMR][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:85 , 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	chr13:50671600-50674400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr13:50671600-50676200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:50671600-50689800	Weak transcription	Colonic Mucosa	Colon
12	chr13:50671800-50674800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr13:50672000-50689400	Weak transcription	Right Ventricle	heart
14	chr13:50672400-50674600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:50672400-50675200	ZNF genes & repeats	Dnd41	blood
16	chr13:50673000-50678600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr13:50673000-50680600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr13:50673000-50695600	Weak transcription	Fetal Intestine Large	intestine
19	chr13:50673200-50675000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr13:50673200-50682600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:50673400-50674200	Enhancers	Liver	Liver
22	chr13:50673400-50674200	Genic enhancers	Left Ventricle	heart
23	chr13:50673400-50674600	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr13:50673400-50675000	ZNF genes & repeats	Fetal Thymus	thymus
25	chr13:50673400-50675800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr13:50673600-50674200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:50673600-50674400	Enhancers	Psoas Muscle	Psoas
28	chr13:50673600-50675000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr13:50673600-50677600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr13:50673600-50678400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:50673600-50679000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr13:50673600-50679800	Weak transcription	Adipose Nuclei	Adipose
33	chr13:50673600-50680200	Weak transcription	Fetal Heart	heart
34	chr13:50673600-50680600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr13:50673600-50681000	Weak transcription	Fetal Lung	lung
36	chr13:50673600-50688400	Weak transcription	HepG2	liver
37	chr13:50673600-50690400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:50673800-50674200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr13:50673800-50675000	Enhancers	Primary B cells from peripheral blood	blood
40	chr13:50673800-50676200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr13:50673800-50678000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:50673800-50678000	Weak transcription	Right Atrium	heart
43	chr13:50673800-50678200	Weak transcription	Primary T cells from cord blood	blood
44	chr13:50673800-50678600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr13:50673800-50678600	Weak transcription	Osteobl	bone
46	chr13:50673800-50679000	Weak transcription	NH-A	brain
47	chr13:50673800-50680600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr13:50673800-50680600	Weak transcription	Brain Substantia Nigra	brain
49	chr13:50673800-50681000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr13:50673800-50693800	Weak transcription	K562	blood

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