Variant report

Variant	rs2500080
Chromosome Location	chr6:14771957-14771958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:14761733..14764383-chr6:14771146..14773076,2	K562	blood:
2	chr6:14768705..14773334-chr6:14774992..14778664,5	K562	blood:
3	chr6:14713107..14715250-chr6:14771155..14774025,2	K562	blood:
4	chr6:14766318..14768956-chr6:14771278..14773593,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1014609	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1014610	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[ASN][1000 genomes]
rs2472804	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2472805	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2472807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2472812	0.95[ASN][1000 genomes]
rs2472813	0.95[ASN][1000 genomes]
rs2472815	0.82[ASN][1000 genomes]
rs2500081	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2500083	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2500084	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2500088	0.95[ASN][1000 genomes]
rs2500089	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2500090	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9396532	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9396533	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][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	nsv1023685	chr6:14514647-14838390	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14760400-14772400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:14763800-14777000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr6:14768000-14785200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:14768200-14772400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:14768800-14772400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:14768800-14775600	Weak transcription	Gastric	stomach
7	chr6:14769800-14772000	Enhancers	Fetal Thymus	thymus
8	chr6:14770400-14772000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:14771200-14772200	Enhancers	Placenta	Placenta
10	chr6:14771400-14772400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:14771400-14772400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:14771400-14772400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:14771400-14772400	Weak transcription	A549	lung
14	chr6:14771400-14772400	Weak transcription	K562	blood
15	chr6:14771400-14775400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:14771600-14772000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:14771800-14772000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:14771800-14772800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:14771800-14773000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:14771800-14773000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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