Variant report

Variant	rs13016261
Chromosome Location	chr2:187549293-187549294
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	chr2:187535669..187538120-chr2:187548739..187551384,2	K562	blood:
2	chr2:187547487..187550393-chr2:187552355..187554929,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11678190	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11683898	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11685758	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151442	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12615659	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12998294	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13001028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006483	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13027560	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028817	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030356	0.87[ASN][1000 genomes]
rs1448424	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17334303	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17334422	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17406339	0.93[ASN][1000 genomes]
rs1839121	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1839123	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839124	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2084448	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34483988	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34521209	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34980163	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35055112	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35251833	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36117902	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3816386	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56136540	0.84[ASN][1000 genomes]
rs58644770	0.85[ASN][1000 genomes]
rs6717512	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6748509	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6753438	0.86[EUR][1000 genomes]
rs7419327	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7575516	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7589470	0.90[ASN][1000 genomes]
rs9333289	0.91[EUR][1000 genomes]
rs9333290	0.96[EUR][1000 genomes]
rs9789682	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs998972	0.81[AMR][1000 genomes];0.87[ASN][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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187536400-187550000	Weak transcription	Gastric	stomach
2	chr2:187538200-187552800	Weak transcription	Brain Substantia Nigra	brain
3	chr2:187539200-187557800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:187541600-187550800	Weak transcription	Lung	lung
5	chr2:187541800-187550400	Weak transcription	Fetal Stomach	stomach
6	chr2:187541800-187552800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:187541800-187558400	Weak transcription	Left Ventricle	heart
8	chr2:187542000-187549600	Weak transcription	Right Ventricle	heart
9	chr2:187542000-187550200	Weak transcription	Aorta	Aorta
10	chr2:187542000-187550200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:187542000-187555400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:187543400-187549600	Weak transcription	Fetal Intestine Large	intestine
13	chr2:187543400-187558200	Weak transcription	NHDF-Ad	bronchial
14	chr2:187543600-187558200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:187543800-187549600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:187546000-187552000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:187546200-187558200	Weak transcription	Placenta	Placenta
18	chr2:187546800-187549400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:187546800-187549600	Weak transcription	NH-A	brain
20	chr2:187546800-187558000	Weak transcription	A549	lung
21	chr2:187547200-187549800	Weak transcription	HSMMtube	muscle
22	chr2:187547200-187549800	Weak transcription	HUVEC	blood vessel
23	chr2:187547200-187550000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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