Variant report

Variant	rs4948613
Chromosome Location	chr10:44691376-44691377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:44684940..44686857-chr10:44689552..44691424,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10508883	0.97[ASN][1000 genomes]
rs10900006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11238914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11238920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11238922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11238973	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238974	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238975	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238977	1.00[ASW][hapmap];0.93[GIH][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238979	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238980	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238981	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11238982	1.00[EUR][1000 genomes]
rs11528515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11528516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11528517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12218899	0.96[AMR][1000 genomes]
rs12220724	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12221014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12240324	0.96[ASN][1000 genomes]
rs12262428	0.97[ASN][1000 genomes]
rs12264354	0.97[ASN][1000 genomes]
rs12412655	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12413395	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12413979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12414524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12414810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12416023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1469894	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1680637	0.91[ASN][1000 genomes]
rs1704225	0.91[ASN][1000 genomes]
rs1704227	0.91[ASN][1000 genomes]
rs17155417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17155440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17155445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17155514	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17155599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17155606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17155619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17155848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17155973	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17155977	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1998500	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1998501	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2862118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3912307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4948614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4948858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4948859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4948862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4948867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4948872	1.00[EUR][1000 genomes]
rs73286694	1.00[EUR][1000 genomes]
rs74138248	0.92[ASN][1000 genomes]
rs746298	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs752642	0.88[AMR][1000 genomes];1.00[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	nsv1038511	chr10:44596885-44870030	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44686800-44692000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr10:44687000-44692000	Enhancers	Colon Smooth Muscle	Colon
3	chr10:44688000-44700600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:44688800-44692000	Enhancers	NHDF-Ad	bronchial
5	chr10:44689000-44691600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr10:44689200-44700600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:44689400-44691600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr10:44689400-44692000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr10:44689800-44691400	Enhancers	Fetal Heart	heart
10	chr10:44690000-44691800	Enhancers	Left Ventricle	heart
11	chr10:44690200-44691800	Enhancers	Fetal Muscle Leg	muscle
12	chr10:44690200-44692000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:44690400-44691400	Enhancers	Fetal Stomach	stomach
14	chr10:44690400-44691400	Enhancers	HSMM	muscle
15	chr10:44690400-44691600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr10:44690400-44691600	Enhancers	Primary hematopoietic stem cells	blood
17	chr10:44690400-44691600	Enhancers	Lung	lung
18	chr10:44690400-44691600	Enhancers	Osteobl	bone
19	chr10:44690400-44691800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:44690400-44691800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:44690400-44691800	Enhancers	Adipose Nuclei	Adipose
22	chr10:44690400-44691800	Flanking Active TSS	HepG2	liver
23	chr10:44690400-44691800	Enhancers	HSMMtube	muscle
24	chr10:44690400-44691800	Enhancers	NH-A	brain
25	chr10:44690400-44691800	Enhancers	NHLF	lung
26	chr10:44690400-44692000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:44690400-44692000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:44690400-44692000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr10:44690400-44692000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr10:44690400-44692000	Enhancers	Duodenum Mucosa	Duodenum
31	chr10:44690400-44692000	Enhancers	Fetal Intestine Small	intestine
32	chr10:44690400-44692000	Enhancers	Ovary	ovary
33	chr10:44690400-44692000	Enhancers	Stomach Mucosa	stomach
34	chr10:44690400-44692000	Enhancers	Stomach Smooth Muscle	stomach
35	chr10:44690600-44691600	Enhancers	Fetal Intestine Large	intestine
36	chr10:44690600-44691600	Enhancers	Right Atrium	heart
37	chr10:44690600-44691600	Enhancers	Right Ventricle	heart
38	chr10:44690600-44692000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:44690600-44692000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr10:44690600-44692000	Enhancers	Liver	Liver
41	chr10:44690600-44692000	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr10:44690600-44692000	Enhancers	Gastric	stomach
43	chr10:44690600-44692000	Enhancers	Rectal Smooth Muscle	rectum
44	chr10:44690600-44692000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr10:44690600-44692000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr10:44690600-44692000	Enhancers	Small Intestine	intestine
47	chr10:44690600-44692200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr10:44690800-44691600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr10:44690800-44691600	Enhancers	Fetal Lung	lung
50	chr10:44690800-44691600	Enhancers	Sigmoid Colon	Sigmoid Colon

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