Variant report

Variant	rs4948893
Chromosome Location	chr10:44968776-44968777
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	chr10:44965493..44968784-chr10:44970633..44973291,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10793540	0.89[ASN][1000 genomes]
rs10900036	0.92[ASN][1000 genomes]
rs10900037	0.92[ASN][1000 genomes]
rs10900042	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10900043	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10900048	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11239036	0.89[ASN][1000 genomes]
rs11239043	0.92[ASN][1000 genomes]
rs11239053	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11239061	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11239062	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11239063	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147941	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1147949	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1147950	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11523862	0.92[ASN][1000 genomes]
rs11598951	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1253716	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12763241	0.89[ASN][1000 genomes]
rs12764958	0.89[ASN][1000 genomes]
rs12770922	0.89[ASN][1000 genomes]
rs1419281	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1572204	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1599985	0.89[ASN][1000 genomes]
rs2225819	0.92[ASN][1000 genomes]
rs35213189	0.89[ASN][1000 genomes]
rs3897796	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3961908	0.89[ASN][1000 genomes]
rs3980045	0.89[ASN][1000 genomes]
rs4948636	0.87[ASN][1000 genomes]
rs4948637	0.87[ASN][1000 genomes]
rs4948881	0.87[ASN][1000 genomes]
rs4948889	0.92[ASN][1000 genomes]
rs4948901	0.87[ASN][1000 genomes]
rs6593415	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6593416	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6593417	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6593418	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6593419	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6593420	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7067631	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7070870	0.92[ASN][1000 genomes]
rs7071025	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7074207	0.92[ASN][1000 genomes]
rs7075418	0.92[ASN][1000 genomes]
rs7086409	0.92[ASN][1000 genomes]
rs7087908	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7899455	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7905396	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7909036	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7909184	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7911230	0.89[ASN][1000 genomes]
rs7916506	0.91[ASN][1000 genomes]
rs7917412	0.92[ASN][1000 genomes]
rs7920634	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv895101	chr10:44909081-45007131	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2756014	chr10:44966294-44972694	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44955800-44971800	Weak transcription	Right Atrium	heart
2	chr10:44956600-44970400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:44966600-44969000	Enhancers	Fetal Muscle Trunk	muscle
4	chr10:44966600-44971800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr10:44967200-44971400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:44967200-44971800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr10:44967400-44972000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:44968200-44968800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:44968400-44968800	Enhancers	Fetal Muscle Leg	muscle
10	chr10:44968400-44968800	Enhancers	Psoas Muscle	Psoas
11	chr10:44968400-44968800	Enhancers	Osteobl	bone
12	chr10:44968400-44969000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:44968400-44969000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr10:44968600-44969000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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