Variant report

Variant	rs12428053
Chromosome Location	chr13:51931810-51931811
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51919543..51922334-chr13:51931291..51934011,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17194999	0.87[CEU][hapmap];0.91[EUR][1000 genomes]
rs9535651	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9535654	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9535656	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51900400-51938200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr13:51906000-51944400	Weak transcription	Spleen	Spleen
3	chr13:51906200-51935400	Weak transcription	HSMMtube	muscle
4	chr13:51907800-51933200	Weak transcription	Primary T cells from cord blood	blood
5	chr13:51911800-51938600	Weak transcription	Pancreas	Pancrea
6	chr13:51913400-51944600	Weak transcription	Aorta	Aorta
7	chr13:51915400-51934000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr13:51917200-51933600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:51917600-51933000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:51917600-51943200	Weak transcription	NHLF	lung
11	chr13:51917800-51942400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:51918200-51933200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:51918400-51938600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:51918600-51935600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr13:51918600-51945000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr13:51919000-51944400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:51920200-51935800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:51921400-51935400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr13:51921400-51938400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:51921400-51938800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:51922400-51936600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:51922800-51941200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr13:51924000-51936200	Weak transcription	HUVEC	blood vessel
24	chr13:51924400-51934000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:51924400-51934400	Weak transcription	Adipose Nuclei	Adipose
26	chr13:51924400-51938600	Weak transcription	A549	lung
27	chr13:51924800-51936600	Weak transcription	Primary B cells from cord blood	blood
28	chr13:51925600-51935200	Weak transcription	Liver	Liver
29	chr13:51925800-51936400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr13:51927000-51934600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr13:51927800-51933000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:51927800-51933200	Weak transcription	HSMM	muscle
33	chr13:51927800-51934200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:51927800-51935400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr13:51927800-51936400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:51927800-51937200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr13:51928000-51932000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr13:51928800-51933800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:51929600-51938600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr13:51929800-51934000	Weak transcription	NH-A	brain
41	chr13:51929800-51936800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr13:51930400-51932600	Enhancers	Fetal Lung	lung
43	chr13:51930400-51935000	Weak transcription	Left Ventricle	heart
44	chr13:51930600-51934200	Weak transcription	HepG2	liver
45	chr13:51930600-51935200	Weak transcription	Osteobl	bone
46	chr13:51930800-51935000	Weak transcription	NHDF-Ad	bronchial
47	chr13:51930800-51938600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr13:51931400-51932400	Enhancers	Fetal Stomach	stomach
49	chr13:51931400-51932800	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr13:51931600-51932400	Enhancers	Stomach Smooth Muscle	stomach

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