Variant report

Variant	rs12481000
Chromosome Location	chr20:22697838-22697839
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	chr20:22697134..22699527-chr20:22702213..22704655,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10485634	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10485635	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10485636	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1072709	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1072710	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13036763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13037107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13037452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13037517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13037649	0.81[EUR][1000 genomes]
rs13037670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13037831	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13037887	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13037911	0.90[CEU][hapmap];0.88[CHB][hapmap]
rs13038194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13038520	0.94[CEU][hapmap];0.88[CHB][hapmap]
rs13039038	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13039191	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13039411	0.90[CEU][hapmap];0.88[CHB][hapmap]
rs13039474	0.90[CEU][hapmap];0.88[CHB][hapmap]
rs13040066	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13040962	0.95[CEU][hapmap];0.88[CHB][hapmap]
rs13042154	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13042246	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13043823	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13044630	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13045430	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1983920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983922	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983923	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983924	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404489	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036197	0.90[CEU][hapmap];0.88[CHB][hapmap]
rs6048280	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048283	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6048284	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6048300	0.85[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap]
rs6048302	0.89[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap]
rs6106548	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62203753	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71212785	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7260708	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7260791	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7262725	0.89[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap]
rs7263541	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7263645	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7264150	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7265587	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7265809	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7265907	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7266066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7270014	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7270196	0.90[CEU][hapmap];0.88[CHB][hapmap]
rs7270493	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7270606	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7272556	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs745661	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8114980	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8117574	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8117625	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8117637	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8117659	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8117748	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8119621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8125753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8126106	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs965762	0.80[EUR][1000 genomes]
rs996070	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs996071	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.85[EUR][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	nsv833943	chr20:22657016-22703454	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv178857	chr20:22693441-22700741	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22696000-22701000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr20:22696200-22698800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr20:22696800-22700600	Enhancers	Primary hematopoietic stem cells	blood
4	chr20:22697000-22698400	Enhancers	HMEC	breast
5	chr20:22697000-22700400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr20:22697000-22700600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr20:22697200-22698400	Enhancers	HSMM	muscle
8	chr20:22697200-22700600	Enhancers	Stomach Mucosa	stomach
9	chr20:22697400-22698000	Enhancers	Adipose Nuclei	Adipose
10	chr20:22697400-22698400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr20:22697400-22698400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:22697400-22698400	Enhancers	Aorta	Aorta
13	chr20:22697400-22698400	Enhancers	Ovary	ovary
14	chr20:22697400-22698400	Enhancers	Right Atrium	heart
15	chr20:22697400-22698400	Enhancers	Right Ventricle	heart
16	chr20:22697400-22698400	Enhancers	Dnd41	blood
17	chr20:22697400-22698400	Enhancers	HSMMtube	muscle
18	chr20:22697400-22698600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr20:22697400-22698600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr20:22697400-22698600	Flanking Active TSS	A549	lung
21	chr20:22697400-22698600	Enhancers	NHEK	skin
22	chr20:22697400-22698800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr20:22697400-22698800	Flanking Active TSS	HUVEC	blood vessel
24	chr20:22697400-22699800	Enhancers	Lung	lung
25	chr20:22697400-22700200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr20:22697400-22700200	Enhancers	Gastric	stomach
27	chr20:22697400-22700600	Enhancers	Fetal Muscle Leg	muscle
28	chr20:22697400-22700600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr20:22697400-22701000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr20:22697600-22698200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr20:22697600-22698400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr20:22697600-22698400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr20:22697600-22698600	Enhancers	Fetal Heart	heart
34	chr20:22697600-22699200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr20:22697600-22699800	Enhancers	Left Ventricle	heart
36	chr20:22697800-22699000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr20:22697800-22699000	Weak transcription	Spleen	Spleen
38	chr20:22697800-22700000	Weak transcription	Placenta	Placenta
39	chr20:22697800-22700600	Enhancers	Hela-S3	cervix

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