Variant report

Variant	rs1944689
Chromosome Location	chr11:121634334-121634335
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	chr11:121632571..121635461-chr11:121638427..121640406,2	K562	blood:
2	chr11:121632571..121635609-chr11:121638427..121640448,3	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10736508	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10736509	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10736510	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10736511	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10736512	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10736513	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10736514	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10750194	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10790453	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10790455	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10790456	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10790457	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10892774	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1111948	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1111950	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11218394	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11218403	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1699100	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1699101	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17125802	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1893842	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1893844	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1893845	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1944673	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1944674	0.80[EUR][1000 genomes]
rs1944677	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1944679	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1944680	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1944681	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1944684	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1944685	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1944688	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1944690	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1944691	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1944692	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1944693	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1944694	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1944695	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2156665	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2187443	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2226885	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2226886	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4245043	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4450181	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4561223	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs481201	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs481402	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs490138	0.89[EUR][1000 genomes]
rs4935783	0.82[EUR][1000 genomes]
rs4936642	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4936644	0.93[EUR][1000 genomes]
rs4936646	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4936647	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4936648	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4936649	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4936650	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4936651	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4936653	0.81[EUR][1000 genomes]
rs4936654	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4936655	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4936656	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4936657	0.81[EUR][1000 genomes]
rs496460	0.89[EUR][1000 genomes]
rs496586	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs499157	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs500172	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs501840	0.89[EUR][1000 genomes]
rs507993	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs508851	0.88[EUR][1000 genomes]
rs519662	0.83[EUR][1000 genomes]
rs533875	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs535768	0.87[EUR][1000 genomes]
rs540824	0.87[EUR][1000 genomes]
rs541772	0.87[EUR][1000 genomes]
rs558783	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs560711	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs563265	0.87[EUR][1000 genomes]
rs573970	0.89[EUR][1000 genomes]
rs583663	0.81[EUR][1000 genomes]
rs618647	0.89[EUR][1000 genomes]
rs618931	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs619855	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs621271	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs632694	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs633072	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs634920	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs645409	0.89[EUR][1000 genomes]
rs6589893	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6589894	0.80[EUR][1000 genomes]
rs659435	0.89[EUR][1000 genomes]
rs662333	0.87[EUR][1000 genomes]
rs662388	0.87[EUR][1000 genomes]
rs663151	0.87[EUR][1000 genomes]
rs663617	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs664539	0.87[EUR][1000 genomes]
rs664885	0.87[EUR][1000 genomes]
rs7105230	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7106615	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7106767	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7107004	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7109992	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7115308	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7115487	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7120171	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7123866	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7124703	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7131393	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7932213	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7936807	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7937768	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7937934	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7940099	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7941422	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7945301	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7945672	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7945853	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7949483	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs92061	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs949077	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs949078	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs949079	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898428	chr11:121568262-121671976	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv832287	chr11:121575379-121722735	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv2753555	chr11:121630790-121646790	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1944689	ZCCHC2	trans	cerebellum	SCAN
rs1944689	OR8A1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121628800-121636200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:121632000-121634800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr11:121632000-121634800	Enhancers	Fetal Stomach	stomach
4	chr11:121633200-121635000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr11:121633200-121635000	Enhancers	Primary B cells from peripheral blood	blood
6	chr11:121633200-121635400	Enhancers	Primary B cells from cord blood	blood
7	chr11:121633400-121634400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:121633400-121634400	Enhancers	Fetal Lung	lung
9	chr11:121633600-121634400	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr11:121633600-121634400	Enhancers	Fetal Heart	heart
11	chr11:121633600-121634400	Enhancers	Rectal Smooth Muscle	rectum
12	chr11:121633600-121634800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr11:121633600-121638000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:121633800-121634400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr11:121633800-121634400	Enhancers	Fetal Kidney	kidney
16	chr11:121633800-121634800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:121633800-121638400	Weak transcription	Right Atrium	heart
18	chr11:121634000-121634400	Enhancers	Brain Angular Gyrus	brain
19	chr11:121634000-121634400	Enhancers	Brain Cingulate Gyrus	brain
20	chr11:121634000-121634400	Enhancers	Brain Hippocampus Middle	brain
21	chr11:121634000-121634400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr11:121634000-121634400	Enhancers	Fetal Brain Female	brain
23	chr11:121634000-121634400	Enhancers	Stomach Smooth Muscle	stomach
24	chr11:121634000-121634600	Enhancers	Brain Germinal Matrix	brain
25	chr11:121634000-121634800	Enhancers	Brain Substantia Nigra	brain
26	chr11:121634000-121634800	Flanking Active TSS	GM12878-XiMat	blood
27	chr11:121634000-121637600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:121634000-121637800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:121634200-121635000	Weak transcription	Fetal Brain Male	brain
30	chr11:121634200-121635200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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