Variant report

Variant	rs11183009
Chromosome Location	chr12:45772313-45772314
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45607198..45608699-chr12:45771420..45773776,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10506261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10506262	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880779	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880781	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10880782	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10880783	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11183000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183001	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183012	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11183019	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11183027	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11183028	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11183030	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11183034	0.92[EUR][1000 genomes]
rs11183040	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11536237	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11611476	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11612092	0.90[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11612531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12230667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12231032	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12314896	0.95[JPT][hapmap]
rs12578337	0.96[YRI][hapmap];0.93[AFR][1000 genomes]
rs12578593	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12580984	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12580991	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12809717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12812732	0.90[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12813734	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12819619	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12829496	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1316280	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17095868	0.81[AMR][1000 genomes]
rs17095871	0.90[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17095872	0.90[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2081589	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2081590	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2408260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34031195	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34470081	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34785109	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35634751	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35754392	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35816444	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3803176	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57911796	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58503970	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59893450	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6582546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7299836	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302251	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304126	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7308092	0.90[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7313617	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7965912	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7968063	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7977798	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9788195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788251	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:45745000-45779800	Weak transcription	Gastric	stomach
4	chr12:45745400-45773000	Weak transcription	Hela-S3	cervix
5	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
8	chr12:45758000-45772600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:45759000-45805200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:45759200-45773800	Weak transcription	Fetal Lung	lung
11	chr12:45759200-45774000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:45759200-45822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:45759400-45796200	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:45759800-45776200	Weak transcription	Psoas Muscle	Psoas
15	chr12:45760200-45785600	Weak transcription	Esophagus	oesophagus
16	chr12:45760600-45785800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:45760600-45798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:45763400-45773000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:45763400-45796000	Weak transcription	Osteobl	bone
20	chr12:45764200-45774000	Weak transcription	Lung	lung
21	chr12:45764200-45774000	Weak transcription	Ovary	ovary
22	chr12:45764200-45774400	Weak transcription	Spleen	Spleen
23	chr12:45764200-45778600	Weak transcription	Aorta	Aorta
24	chr12:45764200-45779200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:45764400-45773200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:45764400-45775000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:45764400-45776600	Weak transcription	HSMMtube	muscle
28	chr12:45764400-45776800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:45764400-45777000	Weak transcription	Fetal Kidney	kidney
30	chr12:45764400-45782400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:45764400-45802800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr12:45764400-45821000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:45764600-45773200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:45764600-45776200	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:45764600-45776600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:45764600-45776800	Weak transcription	NH-A	brain
37	chr12:45764600-45778200	Weak transcription	GM12878-XiMat	blood
38	chr12:45764600-45785600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:45764600-45815400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:45764800-45774000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:45764800-45775400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:45764800-45775400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:45764800-45775600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:45764800-45776200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr12:45764800-45776400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:45764800-45778400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:45770800-45773200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:45770800-45773800	Enhancers	HUVEC	blood vessel
49	chr12:45770800-45780600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:45771000-45772600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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