Variant report

Variant	rs12423797
Chromosome Location	chr12:46142127-46142128
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46140311..46142598-chr12:46147141..46148975,2	K562	blood:
2	chr12:46138878..46142598-chr12:46145019..46148641,4	K562	blood:
3	chr12:46135733..46138197-chr12:46140169..46142459,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10880841	0.85[EUR][1000 genomes]
rs10880846	0.88[EUR][1000 genomes]
rs10880847	0.88[EUR][1000 genomes]
rs10880848	0.88[EUR][1000 genomes]
rs10880849	0.88[EUR][1000 genomes]
rs10880850	0.89[EUR][1000 genomes]
rs10880851	0.88[EUR][1000 genomes]
rs10880853	0.88[EUR][1000 genomes]
rs11183173	0.86[EUR][1000 genomes]
rs11183178	0.88[EUR][1000 genomes]
rs11183179	0.88[EUR][1000 genomes]
rs11183180	0.88[EUR][1000 genomes]
rs11183181	0.88[EUR][1000 genomes]
rs11610813	0.85[EUR][1000 genomes]
rs11613663	0.85[EUR][1000 genomes]
rs12318735	0.88[EUR][1000 genomes]
rs12320114	0.88[EUR][1000 genomes]
rs12367059	0.88[EUR][1000 genomes]
rs12424874	0.84[EUR][1000 genomes]
rs12426716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427001	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12427272	0.88[EUR][1000 genomes]
rs17712083	0.88[EUR][1000 genomes]
rs17712809	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17774089	0.88[EUR][1000 genomes]
rs17774927	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs183646	0.83[AFR][1000 genomes]
rs2059405	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2111963	0.88[EUR][1000 genomes]
rs2160983	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2408436	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs247927	0.88[AFR][1000 genomes]
rs2897910	0.88[EUR][1000 genomes]
rs35123	0.88[AFR][1000 genomes]
rs35124	0.88[AFR][1000 genomes]
rs3759404	0.88[EUR][1000 genomes]
rs4512915	0.88[EUR][1000 genomes]
rs4768659	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768660	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768662	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73095421	0.88[EUR][1000 genomes]
rs73095422	0.88[EUR][1000 genomes]
rs73095489	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73097309	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73097315	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73097319	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7485654	0.88[EUR][1000 genomes]
rs764192	0.82[AFR][1000 genomes]
rs975444	0.84[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	nsv899052	chr12:46068394-46175469	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46125000-46161200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:46125200-46146400	Weak transcription	Left Ventricle	heart
3	chr12:46125200-46156000	Weak transcription	Small Intestine	intestine
4	chr12:46125400-46142400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:46125400-46152200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:46126400-46146000	Weak transcription	Right Ventricle	heart
7	chr12:46126400-46149600	Weak transcription	Right Atrium	heart
8	chr12:46126400-46161200	Weak transcription	Aorta	Aorta
9	chr12:46127200-46142800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:46127200-46142800	Weak transcription	Thymus	Thymus
11	chr12:46127200-46143400	Weak transcription	HSMMtube	muscle
12	chr12:46127200-46147600	Weak transcription	Colonic Mucosa	Colon
13	chr12:46127200-46150400	Weak transcription	NHLF	lung
14	chr12:46127200-46161200	Weak transcription	HMEC	breast
15	chr12:46127400-46144400	Weak transcription	NH-A	brain
16	chr12:46127400-46147600	Weak transcription	Fetal Heart	heart
17	chr12:46127400-46153600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:46127400-46154800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:46127400-46156000	Weak transcription	Adipose Nuclei	Adipose
20	chr12:46127800-46149000	Weak transcription	Brain Substantia Nigra	brain
21	chr12:46128000-46148000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:46128200-46164600	Weak transcription	Esophagus	oesophagus
23	chr12:46129200-46156600	Weak transcription	HepG2	liver
24	chr12:46129400-46156000	Weak transcription	Brain Angular Gyrus	brain
25	chr12:46129600-46144800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:46129600-46145400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:46130000-46147800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:46130400-46147600	Weak transcription	Osteobl	bone
29	chr12:46131200-46142800	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:46131200-46149200	Weak transcription	Placenta	Placenta
31	chr12:46131200-46149800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:46131200-46160800	Weak transcription	NHEK	skin
33	chr12:46131400-46145000	Weak transcription	Gastric	stomach
34	chr12:46131400-46145200	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:46131400-46156200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:46131600-46147000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr12:46131600-46150600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:46131800-46156000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:46132000-46161800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:46132000-46205200	Weak transcription	HSMM	muscle
41	chr12:46132200-46165000	Weak transcription	Lung	lung
42	chr12:46135400-46155400	Weak transcription	HUVEC	blood vessel
43	chr12:46135600-46150400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:46136200-46148000	Weak transcription	Fetal Brain Female	brain
45	chr12:46136200-46148600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:46136400-46150800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:46136400-46159400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:46136600-46143600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:46136600-46144400	Weak transcription	Primary B cells from cord blood	blood
50	chr12:46136600-46157800	Weak transcription	Rectal Mucosa Donor 29	rectum

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