Variant report

Variant	rs62376463
Chromosome Location	chr5:90314407-90314408
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90314128..90316238-chr5:90320139..90322345,2	K562	blood:
2	chr5:90313237..90315031-chr5:90316021..90318044,2	K562	blood:
3	chr5:90312914..90314737-chr5:90316544..90319036,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10074525	1.00[ASN][1000 genomes]
rs10514342	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10514343	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11738573	1.00[ASN][1000 genomes]
rs11743775	1.00[ASN][1000 genomes]
rs11744033	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11744325	1.00[ASN][1000 genomes]
rs11949884	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951675	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952993	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955946	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12186968	1.00[ASN][1000 genomes]
rs12187656	1.00[ASN][1000 genomes]
rs12187790	1.00[ASN][1000 genomes]
rs12188068	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188094	1.00[ASN][1000 genomes]
rs12188249	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188655	1.00[ASN][1000 genomes]
rs12189005	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17571029	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17572843	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17633498	1.00[ASN][1000 genomes]
rs1976566	1.00[ASN][1000 genomes]
rs2438348	1.00[ASN][1000 genomes]
rs3114653	1.00[ASN][1000 genomes]
rs34243354	1.00[ASN][1000 genomes]
rs34381536	1.00[ASN][1000 genomes]
rs35060258	1.00[ASN][1000 genomes]
rs35299092	1.00[ASN][1000 genomes]
rs3850657	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55792004	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55941525	1.00[ASN][1000 genomes]
rs56051320	1.00[ASN][1000 genomes]
rs56099704	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56106025	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56258383	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374052	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62376462	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62376490	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62376491	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6452927	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66509877	1.00[ASN][1000 genomes]
rs6860216	1.00[ASN][1000 genomes]
rs6861614	0.86[EUR][1000 genomes]
rs6880626	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6886773	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888672	1.00[ASN][1000 genomes]
rs6888979	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6889138	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784617	1.00[ASN][1000 genomes]
rs72784624	1.00[ASN][1000 genomes]
rs72784689	1.00[ASN][1000 genomes]
rs72784700	1.00[ASN][1000 genomes]
rs72784702	1.00[ASN][1000 genomes]
rs73771166	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7711168	1.00[ASN][1000 genomes]
rs7721862	1.00[ASN][1000 genomes]
rs7723305	1.00[ASN][1000 genomes]
rs949789	1.00[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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv882369	chr5:90275825-90344149	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90308600-90318400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:90308800-90316000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:90309800-90323200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:90312800-90315000	Enhancers	Fetal Intestine Small	intestine
5	chr5:90313000-90314800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:90313200-90314800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:90313200-90315200	Enhancers	Fetal Lung	lung
8	chr5:90313200-90315400	Enhancers	Colon Smooth Muscle	Colon
9	chr5:90313200-90315400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr5:90313200-90318200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:90313400-90314800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:90313400-90314800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr5:90313400-90315400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr5:90313400-90318400	Weak transcription	A549	lung
15	chr5:90313400-90321600	Weak transcription	Liver	Liver
16	chr5:90313600-90314800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:90313600-90321400	Weak transcription	Small Intestine	intestine
18	chr5:90313800-90320000	Weak transcription	Adipose Nuclei	Adipose
19	chr5:90314000-90314800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:90314000-90314800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:90314000-90319200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:90314200-90314800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:90314200-90314800	Weak transcription	Psoas Muscle	Psoas
24	chr5:90314200-90315200	Enhancers	Stomach Mucosa	stomach
25	chr5:90314200-90316200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:90314200-90319800	Weak transcription	Fetal Stomach	stomach
27	chr5:90314200-90320800	Weak transcription	Fetal Intestine Large	intestine
28	chr5:90314400-90315000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:90314400-90315200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:90314400-90316200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:90314400-90317400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr5:90314400-90318400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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