Variant report

Variant	rs12313889
Chromosome Location	chr12:45771081-45771082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11182983	0.88[YRI][hapmap]
rs11182985	1.00[EUR][1000 genomes]
rs11182986	1.00[ASW][hapmap];0.88[YRI][hapmap]
rs11183020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183108	1.00[EUR][1000 genomes]
rs11183109	1.00[EUR][1000 genomes]
rs12298597	1.00[EUR][1000 genomes]
rs12298823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299715	1.00[EUR][1000 genomes]
rs12303119	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12312478	1.00[EUR][1000 genomes]
rs12313957	1.00[EUR][1000 genomes]
rs12316100	1.00[EUR][1000 genomes]
rs12318053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59027429	1.00[EUR][1000 genomes]
rs6582560	1.00[EUR][1000 genomes]
rs9804810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9804811	1.00[EUR][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:114 , 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	chr12:45750000-45771400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:45750000-45772200	Weak transcription	K562	blood
8	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
10	chr12:45758000-45772600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:45759000-45805200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:45759200-45773800	Weak transcription	Fetal Lung	lung
13	chr12:45759200-45774000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:45759200-45822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:45759400-45796200	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:45759600-45772200	Weak transcription	Fetal Heart	heart
17	chr12:45759800-45776200	Weak transcription	Psoas Muscle	Psoas
18	chr12:45760200-45785600	Weak transcription	Esophagus	oesophagus
19	chr12:45760400-45771600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:45760600-45785800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:45760600-45798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:45763000-45772000	Weak transcription	Fetal Intestine Small	intestine
23	chr12:45763000-45772200	Weak transcription	NHLF	lung
24	chr12:45763200-45771200	Weak transcription	NHDF-Ad	bronchial
25	chr12:45763200-45771800	Weak transcription	HSMM	muscle
26	chr12:45763200-45772200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:45763400-45771200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:45763400-45773000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:45763400-45796000	Weak transcription	Osteobl	bone
30	chr12:45764200-45771400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:45764200-45772000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:45764200-45772200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:45764200-45774000	Weak transcription	Lung	lung
34	chr12:45764200-45774000	Weak transcription	Ovary	ovary
35	chr12:45764200-45774400	Weak transcription	Spleen	Spleen
36	chr12:45764200-45778600	Weak transcription	Aorta	Aorta
37	chr12:45764200-45779200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:45764400-45771800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:45764400-45772000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:45764400-45772000	Weak transcription	HepG2	liver
41	chr12:45764400-45772200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:45764400-45772200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:45764400-45772200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:45764400-45773200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:45764400-45775000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:45764400-45776600	Weak transcription	HSMMtube	muscle
47	chr12:45764400-45776800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:45764400-45777000	Weak transcription	Fetal Kidney	kidney
49	chr12:45764400-45782400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:45764400-45802800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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