Variant report

Variant	rs67780569
Chromosome Location	chr2:32127025-32127026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 183 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:180)

rs_ID	r²[population]
rs1005460	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1011309	0.98[ASN][1000 genomes]
rs10153899	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10490357	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10490358	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10490359	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11124267	0.83[EUR][1000 genomes]
rs11124273	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11883601	0.92[EUR][1000 genomes]
rs11884169	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11885062	0.89[EUR][1000 genomes]
rs11888094	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11890763	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11893435	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11897154	0.91[EUR][1000 genomes]
rs11898765	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11899296	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11901415	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11903729	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12712325	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12988908	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12990358	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12992916	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12993413	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12993808	0.85[EUR][1000 genomes]
rs12994708	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12994869	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12997171	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12997994	0.91[EUR][1000 genomes]
rs13001512	0.87[EUR][1000 genomes]
rs13003695	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13005816	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13006302	0.85[ASN][1000 genomes]
rs13006356	0.85[EUR][1000 genomes]
rs13006358	0.86[EUR][1000 genomes]
rs13006751	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13007025	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13013099	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13014501	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13018592	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13021718	0.97[ASN][1000 genomes]
rs13022518	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13022655	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13022696	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13022719	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13024535	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13028676	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13034714	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13034933	0.84[EUR][1000 genomes]
rs13409437	1.00[ASN][1000 genomes]
rs13414295	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1383023	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs160791	0.87[ASN][1000 genomes]
rs160802	1.00[ASN][1000 genomes]
rs160807	0.88[ASN][1000 genomes]
rs17011641	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17011644	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17011673	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011697	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17011710	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17011711	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17011721	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17011722	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17011740	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17011742	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17766509	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17817040	0.91[EUR][1000 genomes]
rs17817607	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17818002	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1808112	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2007608	0.89[ASN][1000 genomes]
rs2064814	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145038	0.85[ASN][1000 genomes]
rs221198	0.87[ASN][1000 genomes]
rs223620	0.88[ASN][1000 genomes]
rs2366295	0.87[ASN][1000 genomes]
rs33998544	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34056419	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34077616	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34091236	0.88[EUR][1000 genomes]
rs34231321	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34246971	0.83[EUR][1000 genomes]
rs34316760	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34321580	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34369001	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34432107	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34437462	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34460762	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34492168	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34497289	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34509832	0.92[EUR][1000 genomes]
rs34540872	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34569213	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34617455	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34645083	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34687527	0.82[EUR][1000 genomes]
rs34738692	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34776070	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34805211	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34893975	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34897620	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34970173	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34973007	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35178826	0.97[ASN][1000 genomes]
rs35179884	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35262968	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35382589	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35397112	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35404750	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35439422	0.91[EUR][1000 genomes]
rs35502701	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35514510	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35574090	0.91[EUR][1000 genomes]
rs35631143	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35653492	0.87[ASN][1000 genomes]
rs35820518	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36048738	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754837	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3769607	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3769614	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795922	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56821465	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57754448	0.82[EUR][1000 genomes]
rs60954094	0.85[ASN][1000 genomes]
rs62142074	0.96[ASN][1000 genomes]
rs62142076	0.97[ASN][1000 genomes]
rs6543643	0.97[ASN][1000 genomes]
rs6543644	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66511526	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66522244	0.97[ASN][1000 genomes]
rs66735346	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66863308	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66949767	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67048620	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712798	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6718407	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6721692	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6729580	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67335141	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6733630	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6736930	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6739654	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6746749	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67493880	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67517941	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67550529	0.94[ASN][1000 genomes]
rs67557317	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6755740	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6761760	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6761878	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67957236	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs68039196	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68051012	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68076008	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71446026	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71446027	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71446035	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71446040	0.83[EUR][1000 genomes]
rs71446042	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71446044	0.85[ASN][1000 genomes]
rs71446045	0.85[ASN][1000 genomes]
rs72857279	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72859088	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72860906	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72860941	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72860982	0.80[ASN][1000 genomes]
rs72861000	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7559329	0.95[ASN][1000 genomes]
rs7560472	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7560714	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7562388	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7574910	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7577579	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587341	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7591270	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598154	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7601038	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7607030	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7607225	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs875167	0.86[AMR][1000 genomes];0.92[EUR][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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv873777	chr2:32019747-32197123	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32061600-32172800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:32064600-32142400	Weak transcription	NHDF-Ad	bronchial
3	chr2:32075800-32170000	Weak transcription	Aorta	Aorta
4	chr2:32086600-32174400	Weak transcription	NHLF	lung
5	chr2:32088000-32157600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:32088200-32127600	Weak transcription	K562	blood
7	chr2:32089400-32160000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:32099600-32193000	Weak transcription	Hela-S3	cervix
9	chr2:32100800-32147800	Weak transcription	Spleen	Spleen
10	chr2:32103200-32133600	Weak transcription	Brain Germinal Matrix	brain
11	chr2:32104600-32131600	Weak transcription	Fetal Heart	heart
12	chr2:32105400-32146600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:32107200-32167600	Weak transcription	Left Ventricle	heart
14	chr2:32107400-32131800	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:32112400-32129200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:32114400-32153800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:32115400-32139000	Weak transcription	Brain Angular Gyrus	brain
18	chr2:32116000-32133200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:32116200-32173000	Weak transcription	HSMMtube	muscle
20	chr2:32116600-32143000	Weak transcription	Colonic Mucosa	Colon
21	chr2:32116800-32136200	Weak transcription	Brain Anterior Caudate	brain
22	chr2:32116800-32144800	Weak transcription	NHEK	skin
23	chr2:32116800-32148000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:32116800-32166200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:32116800-32169400	Weak transcription	Small Intestine	intestine
26	chr2:32116800-32182200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:32117000-32131600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:32117000-32205200	Weak transcription	NH-A	brain
29	chr2:32117200-32128800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:32117400-32144800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:32117800-32127400	Weak transcription	Osteobl	bone
32	chr2:32118000-32145000	Weak transcription	HSMM	muscle
33	chr2:32118600-32170600	Weak transcription	Gastric	stomach
34	chr2:32119200-32181400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:32119800-32144600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:32119800-32144800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:32119800-32146400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:32122600-32132800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:32122600-32146400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:32124000-32129000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:32124000-32130000	Strong transcription	Primary B cells from cord blood	blood
42	chr2:32124000-32133200	Weak transcription	HUVEC	blood vessel
43	chr2:32124000-32133800	Weak transcription	Fetal Kidney	kidney
44	chr2:32124000-32136000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:32124000-32144200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:32124000-32146400	Weak transcription	Brain Substantia Nigra	brain
47	chr2:32124200-32127200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:32124200-32127200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:32124400-32146600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:32124600-32129400	Weak transcription	Esophagus	oesophagus

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