Variant report

Variant	rs12314896
Chromosome Location	chr12:45756109-45756110
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10506261	0.95[JPT][hapmap]
rs10506262	0.94[JPT][hapmap]
rs10748423	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10785572	0.86[EUR][1000 genomes]
rs10880774	0.84[EUR][1000 genomes]
rs10880776	0.84[EUR][1000 genomes]
rs10880780	0.95[JPT][hapmap]
rs11183000	0.94[JPT][hapmap]
rs11183004	0.95[JPT][hapmap]
rs11183009	0.95[JPT][hapmap]
rs11183028	0.94[JPT][hapmap]
rs11183040	0.95[JPT][hapmap]
rs11612531	0.95[JPT][hapmap]
rs12230667	0.95[JPT][hapmap]
rs12578593	0.95[JPT][hapmap]
rs12809717	0.94[JPT][hapmap]
rs12829496	0.89[JPT][hapmap]
rs1986426	0.81[ASN][1000 genomes]
rs2408260	1.00[JPT][hapmap]
rs2408315	0.83[ASN][1000 genomes]
rs2408316	0.83[ASN][1000 genomes]
rs2897868	0.85[EUR][1000 genomes]
rs4469956	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6582545	0.85[EUR][1000 genomes]
rs6582546	1.00[JPT][hapmap]
rs7136295	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302256	0.94[JPT][hapmap]
rs7307697	0.83[ASN][1000 genomes]
rs7958429	0.84[EUR][1000 genomes]
rs7965912	0.94[JPT][hapmap]
rs7967892	0.86[EUR][1000 genomes]
rs9788251	0.94[JPT][hapmap]

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:83 , 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	chr12:45740800-45757600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:45742800-45758000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:45744800-45758800	Weak transcription	Psoas Muscle	Psoas
6	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:45745000-45756800	Weak transcription	Esophagus	oesophagus
8	chr12:45745000-45757000	Weak transcription	Spleen	Spleen
9	chr12:45745000-45762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:45745000-45763600	Weak transcription	Pancreas	Pancrea
11	chr12:45745000-45763800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:45745000-45779800	Weak transcription	Gastric	stomach
13	chr12:45745200-45756600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:45745400-45773000	Weak transcription	Hela-S3	cervix
15	chr12:45745600-45763800	Weak transcription	Fetal Brain Male	brain
16	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:45749200-45757400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:45749800-45756600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:45749800-45756800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:45749800-45757000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:45749800-45757000	Weak transcription	Lung	lung
22	chr12:45750000-45757000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:45750000-45757000	Weak transcription	Placenta	Placenta
24	chr12:45750000-45762600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:45750000-45771400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:45750000-45772200	Weak transcription	K562	blood
27	chr12:45752000-45756800	Weak transcription	Fetal Intestine Small	intestine
28	chr12:45752000-45762200	Weak transcription	HUVEC	blood vessel
29	chr12:45752200-45756200	Weak transcription	Osteobl	bone
30	chr12:45752200-45756400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:45752200-45756400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:45752200-45756800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:45752200-45756800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:45752200-45756800	Weak transcription	Thymus	Thymus
35	chr12:45752200-45756800	Weak transcription	HepG2	liver
36	chr12:45752200-45757000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:45752200-45757000	Weak transcription	Fetal Stomach	stomach
38	chr12:45752200-45757000	Weak transcription	Left Ventricle	heart
39	chr12:45752200-45757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:45752200-45757600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:45752200-45757600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:45752200-45762200	Weak transcription	Right Ventricle	heart
43	chr12:45752200-45762400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:45752200-45762600	Weak transcription	HSMMtube	muscle
45	chr12:45752200-45762600	Weak transcription	NH-A	brain
46	chr12:45752200-45763400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
49	chr12:45752400-45758800	Weak transcription	Fetal Heart	heart
50	chr12:45752400-45763800	Weak transcription	HMEC	breast

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