Variant report

Variant	rs1944693
Chromosome Location	chr11:121626415-121626416
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	chr11:121624323..121626463-chr11:121639870..121641598,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10736508	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10736509	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10736510	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10736511	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10736512	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10736513	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10736514	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10750194	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10790453	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10790455	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10790456	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10790457	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10790461	0.80[EUR][1000 genomes]
rs10892774	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1111948	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1111950	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11218394	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11218403	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1699100	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1699101	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17125802	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17337314	0.98[ASN][1000 genomes]
rs1893842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1893844	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1893845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1944673	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1944674	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1944677	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1944679	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1944680	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1944681	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1944684	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1944685	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1944688	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1944689	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1944690	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1944691	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1944692	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1944694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1944695	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2156665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2187443	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2226885	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2226886	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34551409	0.84[ASN][1000 genomes]
rs4245043	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4450181	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4561223	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs481201	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs481402	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs490138	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4935783	0.81[EUR][1000 genomes]
rs4936642	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4936644	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4936646	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4936647	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4936648	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4936649	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4936650	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4936651	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4936653	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4936654	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4936655	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4936656	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4936657	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs496460	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs496586	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs499157	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs500172	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs501840	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs507993	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs508851	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs519662	0.83[EUR][1000 genomes]
rs533875	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs535768	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs540824	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs541772	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs558783	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs560711	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs563265	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs573970	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs583663	0.82[EUR][1000 genomes]
rs618647	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs618931	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs619855	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs621271	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs632694	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs633072	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs634920	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs645409	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6589893	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs659435	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs662333	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs662388	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs663151	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs663617	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs664539	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs664885	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7105230	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7106615	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7106767	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7107004	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7109992	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7115308	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7115487	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7120171	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7123866	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7124703	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7131393	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7932213	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7936807	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7937768	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7937934	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7940099	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7941422	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7945301	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7945672	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7945853	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7949483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs92061	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs949077	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs949078	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs949079	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1944693	ZCCHC2	trans	cerebellum	SCAN
rs1944693	OR8A1	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121620800-121632000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:121624600-121626800	Enhancers	Ovary	ovary
3	chr11:121624600-121627000	Enhancers	Fetal Muscle Leg	muscle
4	chr11:121625200-121628400	Enhancers	Fetal Stomach	stomach
5	chr11:121625400-121626800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:121625400-121626800	Enhancers	Rectal Smooth Muscle	rectum
7	chr11:121625400-121627200	Enhancers	Brain Cingulate Gyrus	brain
8	chr11:121625600-121627000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:121625600-121633600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:121625800-121627600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr11:121625800-121628200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:121625800-121628600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:121625800-121628600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr11:121625800-121632800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:121626000-121626600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:121626000-121627800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:121626000-121629000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr11:121626200-121626600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr11:121626200-121627000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr11:121626200-121627000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr11:121626200-121627000	Enhancers	Brain Angular Gyrus	brain
22	chr11:121626200-121627800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr11:121626200-121627800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr11:121626200-121633800	Weak transcription	Fetal Kidney	kidney
25	chr11:121626400-121626800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:121626400-121628200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:121626400-121628200	Weak transcription	HSMM	muscle
28	chr11:121626400-121633200	Weak transcription	Stomach Smooth Muscle	stomach

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