Variant report

Variant	rs1223531
Chromosome Location	chr6:13147535-13147536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1223510	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1223520	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1223521	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1223527	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1223529	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1223534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1223538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1223541	0.88[JPT][hapmap]
rs1223545	0.88[JPT][hapmap]
rs2186159	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35596191	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6458677	0.91[EUR][1000 genomes]
rs6909002	0.90[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	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13132800-13153000	Weak transcription	Aorta	Aorta
2	chr6:13140400-13147800	Weak transcription	Fetal Kidney	kidney
3	chr6:13142400-13159400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:13144000-13149000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:13144600-13148800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:13144600-13149000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:13144600-13149200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:13144800-13149200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:13144800-13149400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:13145400-13148400	Enhancers	Brain Anterior Caudate	brain
11	chr6:13146000-13147800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr6:13146000-13158400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:13146000-13159200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:13146200-13149600	Weak transcription	Right Ventricle	heart
15	chr6:13146400-13152600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:13146400-13152800	Weak transcription	Left Ventricle	heart
17	chr6:13147000-13148000	Enhancers	Duodenum Mucosa	Duodenum
18	chr6:13147000-13148400	Weak transcription	Brain Substantia Nigra	brain
19	chr6:13147200-13152600	Weak transcription	Fetal Heart	heart
20	chr6:13147400-13148000	Enhancers	Brain Angular Gyrus	brain
21	chr6:13147400-13148400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:13147400-13153000	Weak transcription	Brain Cingulate Gyrus	brain

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