Variant report

Variant	rs11884169
Chromosome Location	chr2:32187308-32187309
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32186004..32187856-chr2:32201894..32204650,2	K562	blood:
2	chr2:32181335..32182937-chr2:32186158..32188068,2	K562	blood:
3	chr2:32167207..32169044-chr2:32185983..32188550,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162959	Chromatin interaction

Extended variants
information (count: 176 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:173)

rs_ID	r²[population]
rs1005460	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1011309	0.97[ASN][1000 genomes]
rs10153899	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10490357	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10490358	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10490359	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11124273	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11883601	0.91[EUR][1000 genomes]
rs11885062	0.88[EUR][1000 genomes]
rs11888094	0.93[EUR][1000 genomes]
rs11890763	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11893435	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11897154	0.92[EUR][1000 genomes]
rs11898765	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11899296	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11901415	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11903729	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12712325	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12988908	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12990358	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12992916	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12993413	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12993808	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12994708	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12994869	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12997171	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12997994	0.89[EUR][1000 genomes]
rs13003695	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13005816	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13006302	0.84[ASN][1000 genomes]
rs13006751	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13007025	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13013099	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13014501	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13018592	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13021718	0.95[ASN][1000 genomes]
rs13022518	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13022655	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13022696	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13022719	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13024535	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13028676	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13034714	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13034933	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13409437	0.95[ASN][1000 genomes]
rs13414295	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1383023	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs160791	0.85[ASN][1000 genomes]
rs160802	0.95[ASN][1000 genomes]
rs160807	0.87[ASN][1000 genomes]
rs17011641	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17011644	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17011673	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17011697	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17011710	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17011711	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17011721	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011722	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011740	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17011742	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17766509	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17817040	0.89[EUR][1000 genomes]
rs17817607	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17818002	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1808112	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2007608	0.87[ASN][1000 genomes]
rs2064814	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2145038	0.84[ASN][1000 genomes]
rs221198	0.83[ASN][1000 genomes]
rs223620	0.84[ASN][1000 genomes]
rs2366295	0.83[ASN][1000 genomes]
rs33998544	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34056419	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34077616	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34231321	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34246971	0.84[EUR][1000 genomes]
rs34316760	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34321580	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34369001	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34432107	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34437462	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34460762	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34492168	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34497289	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34509832	0.91[EUR][1000 genomes]
rs34540872	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34569213	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34617455	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34645083	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34738692	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34776070	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34805211	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34893975	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34897620	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34970173	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34973007	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35178826	0.95[ASN][1000 genomes]
rs35179884	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35262968	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35382589	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35397112	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35404750	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35439422	0.87[EUR][1000 genomes]
rs35502701	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35514510	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35574090	0.89[EUR][1000 genomes]
rs35631143	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35653492	0.85[ASN][1000 genomes]
rs35820518	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36048738	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3754837	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3769607	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769614	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3795922	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56821465	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60954094	0.84[ASN][1000 genomes]
rs62142074	0.94[ASN][1000 genomes]
rs62142076	0.95[ASN][1000 genomes]
rs6543643	0.92[ASN][1000 genomes]
rs6543644	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66511526	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66522244	0.95[ASN][1000 genomes]
rs66735346	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66863308	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66949767	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67048620	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6712798	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6718407	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6721692	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6729580	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67335141	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6733630	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6736930	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6739654	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6746749	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67493880	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67517941	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67550529	0.93[ASN][1000 genomes]
rs67557317	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6755740	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6761760	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6761878	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67780569	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67957236	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68039196	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68051012	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68076008	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71446026	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71446027	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71446035	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71446040	0.84[EUR][1000 genomes]
rs71446042	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71446044	0.84[ASN][1000 genomes]
rs71446045	0.84[ASN][1000 genomes]
rs72857279	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72859088	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72860906	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72860941	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72860982	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72861000	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7559329	1.00[ASN][1000 genomes]
rs7560472	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7560714	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7562388	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7574910	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7577579	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7587341	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7591270	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7598154	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7601038	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7607030	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7607225	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs875167	0.93[AMR][1000 genomes];0.93[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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32099600-32193000	Weak transcription	Hela-S3	cervix
2	chr2:32117000-32205200	Weak transcription	NH-A	brain
3	chr2:32127400-32190200	Weak transcription	Lung	lung
4	chr2:32136600-32188800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:32137000-32189200	Weak transcription	Fetal Kidney	kidney
6	chr2:32145200-32190800	Weak transcription	Pancreas	Pancrea
7	chr2:32167200-32193200	Weak transcription	HSMM	muscle
8	chr2:32168200-32189600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:32168200-32194400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:32168200-32197400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:32168400-32189400	Weak transcription	Fetal Intestine Small	intestine
12	chr2:32168400-32193600	Weak transcription	Fetal Brain Female	brain
13	chr2:32168400-32194200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:32168400-32202000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:32168400-32205200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:32168400-32205800	Weak transcription	Fetal Lung	lung
17	chr2:32168400-32205800	Weak transcription	Thymus	Thymus
18	chr2:32168400-32212200	Weak transcription	Esophagus	oesophagus
19	chr2:32168400-32233400	Weak transcription	Fetal Stomach	stomach
20	chr2:32168600-32193400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:32168800-32190000	Weak transcription	Dnd41	blood
22	chr2:32168800-32193200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:32171000-32227600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:32171200-32198800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:32171400-32192600	Weak transcription	Osteobl	bone
26	chr2:32173200-32187800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:32182600-32187600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:32182600-32187800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:32182800-32188200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr2:32183000-32187400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr2:32183200-32188000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:32183200-32195200	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:32183400-32188200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:32183600-32205400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr2:32183600-32205400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:32183800-32188800	Weak transcription	Liver	Liver
37	chr2:32183800-32191800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:32184200-32188400	Enhancers	K562	blood
39	chr2:32184200-32198000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:32184400-32190200	Weak transcription	Gastric	stomach
41	chr2:32184400-32192800	Weak transcription	Brain Germinal Matrix	brain
42	chr2:32184800-32187400	Enhancers	Primary T cells fromperipheralblood	blood
43	chr2:32184800-32205200	Weak transcription	Small Intestine	intestine
44	chr2:32185000-32187400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:32185000-32187600	Enhancers	Left Ventricle	heart
46	chr2:32185000-32189000	Enhancers	GM12878-XiMat	blood
47	chr2:32185000-32191400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:32185200-32188000	Weak transcription	Right Ventricle	heart
49	chr2:32185200-32209600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:32185800-32188600	Enhancers	Primary T helper cells PMA-I stimulated	--

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