Variant report

Variant	rs10485636
Chromosome Location	chr20:22697757-22697758
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	chr20:22697134..22699527-chr20:22702213..22704655,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10485634	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10485635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1072709	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1072710	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11087395	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11907108	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12479587	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12480993	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12481000	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12481542	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13036614	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13036740	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13036763	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13037107	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13037452	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13037517	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13037670	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13037831	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13037887	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13037911	0.86[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13037976	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13038194	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13038208	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13038520	0.89[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13039038	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13039191	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13039411	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13039474	0.86[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13040066	0.86[EUR][1000 genomes]
rs13040538	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13040962	0.91[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13042154	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13042246	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13043823	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13044630	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13044931	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13045430	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983920	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1983921	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1983922	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1983923	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1983924	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2404489	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34675647	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4371419	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4514951	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4603850	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6036197	0.86[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6036205	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6036206	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6048291	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048298	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048300	0.81[CEU][hapmap];0.88[CHB][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048302	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048327	0.84[AMR][1000 genomes]
rs6048328	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6075943	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6106548	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6113789	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62203753	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7260708	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7260791	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7262725	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.81[MEX][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7263541	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7263645	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7264150	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7265587	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7265907	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7266066	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7270014	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7270196	0.86[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7270365	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7270493	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7270606	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7272556	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs745661	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8114980	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8117574	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8117625	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8117637	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8117659	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8117748	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8119621	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8125753	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8126106	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs965763	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs996070	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996071	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];0.96[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10485636	GGTLC1	cis	parietal	SCAN

Chromatin state (count:40 , 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	chr20:22697400-22697800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr20:22697400-22697800	Enhancers	Placenta	Placenta
11	chr20:22697400-22697800	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr20:22697400-22697800	Enhancers	Spleen	Spleen
13	chr20:22697400-22697800	Flanking Active TSS	Hela-S3	cervix
14	chr20:22697400-22698000	Enhancers	Adipose Nuclei	Adipose
15	chr20:22697400-22698400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr20:22697400-22698400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr20:22697400-22698400	Enhancers	Aorta	Aorta
18	chr20:22697400-22698400	Enhancers	Ovary	ovary
19	chr20:22697400-22698400	Enhancers	Right Atrium	heart
20	chr20:22697400-22698400	Enhancers	Right Ventricle	heart
21	chr20:22697400-22698400	Enhancers	Dnd41	blood
22	chr20:22697400-22698400	Enhancers	HSMMtube	muscle
23	chr20:22697400-22698600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr20:22697400-22698600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr20:22697400-22698600	Flanking Active TSS	A549	lung
26	chr20:22697400-22698600	Enhancers	NHEK	skin
27	chr20:22697400-22698800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr20:22697400-22698800	Flanking Active TSS	HUVEC	blood vessel
29	chr20:22697400-22699800	Enhancers	Lung	lung
30	chr20:22697400-22700200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr20:22697400-22700200	Enhancers	Gastric	stomach
32	chr20:22697400-22700600	Enhancers	Fetal Muscle Leg	muscle
33	chr20:22697400-22700600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr20:22697400-22701000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr20:22697600-22698200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr20:22697600-22698400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr20:22697600-22698400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr20:22697600-22698600	Enhancers	Fetal Heart	heart
39	chr20:22697600-22699200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr20:22697600-22699800	Enhancers	Left Ventricle	heart

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