Variant report

Variant	rs11183002
Chromosome Location	chr12:45755680-45755681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10431612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10785569	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880775	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880777	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182983	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182986	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182988	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182989	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182990	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182991	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183007	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11183010	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11183011	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11183013	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11183014	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11183017	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11183021	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11183023	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11183029	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11183037	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11183038	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183042	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11533629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11543435	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11553695	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12228410	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12231770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12297071	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12809159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12829186	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13378014	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1863549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1913696	0.97[ASN][1000 genomes]
rs2090230	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2162322	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34321530	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34547270	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35168706	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35213944	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35847979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3803178	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3803179	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58640880	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71461108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45723800-45757000	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
3	chr12:45739000-45756000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:45740800-45757600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:45742800-45758000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:45744800-45758800	Weak transcription	Psoas Muscle	Psoas
7	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:45745000-45756800	Weak transcription	Esophagus	oesophagus
9	chr12:45745000-45757000	Weak transcription	Spleen	Spleen
10	chr12:45745000-45762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:45745000-45763600	Weak transcription	Pancreas	Pancrea
12	chr12:45745000-45763800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:45745000-45779800	Weak transcription	Gastric	stomach
14	chr12:45745200-45755800	Weak transcription	HSMM	muscle
15	chr12:45745200-45756600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:45745400-45755800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:45745400-45773000	Weak transcription	Hela-S3	cervix
18	chr12:45745600-45755800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:45745600-45763800	Weak transcription	Fetal Brain Male	brain
20	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:45749200-45757400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:45749800-45756600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:45749800-45756800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:45749800-45757000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:45749800-45757000	Weak transcription	Lung	lung
26	chr12:45750000-45757000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:45750000-45757000	Weak transcription	Placenta	Placenta
28	chr12:45750000-45762600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:45750000-45771400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:45750000-45772200	Weak transcription	K562	blood
31	chr12:45752000-45755800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:45752000-45756800	Weak transcription	Fetal Intestine Small	intestine
33	chr12:45752000-45762200	Weak transcription	HUVEC	blood vessel
34	chr12:45752200-45756200	Weak transcription	Osteobl	bone
35	chr12:45752200-45756400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:45752200-45756400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:45752200-45756800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:45752200-45756800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:45752200-45756800	Weak transcription	Thymus	Thymus
40	chr12:45752200-45756800	Weak transcription	HepG2	liver
41	chr12:45752200-45757000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:45752200-45757000	Weak transcription	Fetal Stomach	stomach
43	chr12:45752200-45757000	Weak transcription	Left Ventricle	heart
44	chr12:45752200-45757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:45752200-45757600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:45752200-45757600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:45752200-45762200	Weak transcription	Right Ventricle	heart
48	chr12:45752200-45762400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:45752200-45762600	Weak transcription	HSMMtube	muscle
50	chr12:45752200-45762600	Weak transcription	NH-A	brain

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