Variant report

Variant	rs57270175
Chromosome Location	chr13:48542743-48542744
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	chr13:48541315..48543966-chr13:48557894..48560541,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs59416591	1.00[AMR][1000 genomes]
rs74075642	1.00[AMR][1000 genomes]
rs74075656	1.00[AMR][1000 genomes]
rs74077305	1.00[AMR][1000 genomes]
rs74077309	1.00[AMR][1000 genomes]
rs74077312	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933980	chr13:48431000-48557419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48507200-48548800	Weak transcription	Stomach Mucosa	stomach
2	chr13:48514400-48574000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr13:48528000-48545800	Weak transcription	Colon Smooth Muscle	Colon
4	chr13:48532000-48551400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr13:48532200-48565200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr13:48532400-48546000	Weak transcription	Aorta	Aorta
7	chr13:48532400-48559400	Weak transcription	Gastric	stomach
8	chr13:48532400-48565200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:48532600-48545800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr13:48532800-48545800	Weak transcription	Brain Substantia Nigra	brain
11	chr13:48533800-48548000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr13:48534000-48543000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr13:48534000-48560800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr13:48534200-48542800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:48534200-48542800	Strong transcription	Adipose Nuclei	Adipose
16	chr13:48534200-48543000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:48534200-48545200	Weak transcription	Spleen	Spleen
18	chr13:48534200-48545800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr13:48534200-48573200	Weak transcription	Brain Angular Gyrus	brain
20	chr13:48534400-48543200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr13:48534400-48544400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr13:48534400-48574400	Weak transcription	Small Intestine	intestine
23	chr13:48534600-48546000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr13:48534600-48550400	Weak transcription	Right Ventricle	heart
25	chr13:48535000-48564800	Weak transcription	NHLF	lung
26	chr13:48535200-48545000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr13:48535200-48552000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr13:48536000-48550400	Weak transcription	Fetal Heart	heart
29	chr13:48536200-48542800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr13:48536200-48550000	Weak transcription	NHEK	skin
31	chr13:48536400-48543000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr13:48536600-48542800	Strong transcription	HSMM	muscle
33	chr13:48536800-48547800	Strong transcription	Liver	Liver
34	chr13:48537000-48542800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr13:48537200-48543000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:48537200-48544800	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr13:48537200-48574200	Weak transcription	Colonic Mucosa	Colon
38	chr13:48537400-48543400	Strong transcription	Osteobl	bone
39	chr13:48537400-48545400	Weak transcription	Pancreas	Pancrea
40	chr13:48537400-48560200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr13:48537400-48574000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr13:48537400-48574400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:48537800-48543400	Strong transcription	HepG2	liver
44	chr13:48538000-48567200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr13:48538200-48544000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr13:48538400-48543000	Strong transcription	Dnd41	blood
47	chr13:48538400-48547200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr13:48538400-48551000	Weak transcription	Fetal Brain Male	brain
49	chr13:48538400-48551600	Weak transcription	Brain Hippocampus Middle	brain
50	chr13:48538400-48574000	Weak transcription	Hela-S3	cervix

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