Variant report

Variant	rs4948820
Chromosome Location	chr10:44513368-44513369
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:44509739..44511242-chr10:44512811..44514993,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10736825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793518	0.99[ASN][1000 genomes]
rs10899962	0.82[ASN][1000 genomes]
rs10899967	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10899968	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12412267	0.97[ASN][1000 genomes]
rs12415001	0.96[ASN][1000 genomes]
rs12573239	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1388975	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492705	0.88[EUR][1000 genomes]
rs1492711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565660	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1602716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1891883	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051120	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2185946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2185947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2624688	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2639469	0.81[EUR][1000 genomes]
rs2902339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2902340	0.82[ASN][1000 genomes]
rs4615977	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4948595	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4948596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4948812	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4948816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4948817	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4948819	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4997087	0.82[ASN][1000 genomes]
rs6593388	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593392	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593393	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593394	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7074248	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7084564	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7475017	0.87[AMR][1000 genomes]
rs7903881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7917534	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7919657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7922924	0.85[ASN][1000 genomes]
rs7923335	0.86[ASN][1000 genomes]
rs955582	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv466884	chr10:44473036-44515130	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv550698	chr10:44473036-44515130	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44507800-44513400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr10:44510400-44513600	Enhancers	Ovary	ovary
3	chr10:44510600-44513400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr10:44510600-44513800	Enhancers	Adipose Nuclei	Adipose
5	chr10:44511400-44513400	Enhancers	Stomach Smooth Muscle	stomach
6	chr10:44511400-44513600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:44511400-44513600	Enhancers	Right Atrium	heart
8	chr10:44511600-44513400	Enhancers	Colon Smooth Muscle	Colon
9	chr10:44511600-44513400	Enhancers	Right Ventricle	heart
10	chr10:44511800-44513600	Enhancers	Left Ventricle	heart
11	chr10:44511800-44537600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:44512000-44513400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:44512200-44513400	Enhancers	Duodenum Mucosa	Duodenum
14	chr10:44512200-44513400	Enhancers	NHDF-Ad	bronchial
15	chr10:44512200-44513400	Enhancers	Osteobl	bone
16	chr10:44512400-44516400	Weak transcription	Colonic Mucosa	Colon
17	chr10:44512400-44516400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr10:44512600-44513600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:44512800-44513400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr10:44512800-44513600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:44512800-44513600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:44513000-44513400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:44513000-44513400	Enhancers	Aorta	Aorta
24	chr10:44513000-44513400	Enhancers	Pancreas	Pancrea
25	chr10:44513000-44513600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr10:44513000-44513600	Enhancers	Lung	lung
27	chr10:44513000-44513600	Enhancers	NHEK	skin
28	chr10:44513200-44513400	Bivalent Enhancer	Liver	Liver
29	chr10:44513200-44515200	Weak transcription	GM12878-XiMat	blood
30	chr10:44513200-44515400	Weak transcription	Fetal Muscle Leg	muscle

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