Variant report

Variant	rs13043823
Chromosome Location	chr20:22699390-22699391
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	chr20:22698060..22699692-chr20:22703539..22705763,2	K562	blood:
2	chr20:22697134..22699527-chr20:22702213..22704655,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1072710	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480993	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481000	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481542	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13036763	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13037107	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13037452	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13037517	0.98[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	0.98[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]
rs13038194	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13039038	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13039191	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13040066	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13042154	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13042246	0.88[AMR][1000 genomes];0.88[EUR][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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983921	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983922	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983923	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983924	0.94[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]
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]
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	0.87[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]
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	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7265907	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7266066	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7270014	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7270374	0.84[CHB][hapmap];0.80[CHD][hapmap];0.89[GIH][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	0.83[CEU][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8114980	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8117574	0.83[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8117625	0.83[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8117637	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8117659	0.81[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8117748	0.83[CEU][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8119621	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8125753	0.83[CEU][hapmap];0.94[MEX][hapmap];0.92[TSI][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	0.83[CEU][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs996071	0.83[CEU][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13043823	GGTLC1	cis	parietal	SCAN

Chromatin state (count:30 , 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	chr20:22696800-22700600	Enhancers	Primary hematopoietic stem cells	blood
3	chr20:22697000-22700400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr20:22697000-22700600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr20:22697200-22700600	Enhancers	Stomach Mucosa	stomach
6	chr20:22697400-22699800	Enhancers	Lung	lung
7	chr20:22697400-22700200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr20:22697400-22700200	Enhancers	Gastric	stomach
9	chr20:22697400-22700600	Enhancers	Fetal Muscle Leg	muscle
10	chr20:22697400-22700600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr20:22697400-22701000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr20:22697600-22699800	Enhancers	Left Ventricle	heart
13	chr20:22697800-22700000	Weak transcription	Placenta	Placenta
14	chr20:22697800-22700600	Enhancers	Hela-S3	cervix
15	chr20:22698000-22699600	Weak transcription	Adipose Nuclei	Adipose
16	chr20:22698400-22699400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr20:22698400-22699400	Weak transcription	Ovary	ovary
18	chr20:22698400-22699600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr20:22698400-22699600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr20:22698400-22699600	Weak transcription	Dnd41	blood
21	chr20:22698400-22704000	Weak transcription	HSMMtube	muscle
22	chr20:22698400-22705800	Weak transcription	Right Atrium	heart
23	chr20:22698600-22700200	Enhancers	A549	lung
24	chr20:22698800-22700600	Enhancers	HUVEC	blood vessel
25	chr20:22698800-22708000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr20:22699000-22700200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr20:22699000-22700200	Enhancers	Spleen	Spleen
28	chr20:22699200-22700000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr20:22699200-22700000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr20:22699200-22701000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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