Variant report

Variant	rs4766948
Chromosome Location	chr12:120224989-120224990
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120192900..120195362-chr12:120224387..120227353,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10459141	0.91[EUR][1000 genomes]
rs11064906	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11064911	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11064919	0.82[EUR][1000 genomes]
rs12300601	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12302281	0.83[EUR][1000 genomes]
rs169408	0.93[EUR][1000 genomes]
rs203331	0.92[EUR][1000 genomes]
rs203332	0.95[EUR][1000 genomes]
rs203335	0.89[EUR][1000 genomes]
rs203339	0.86[ASN][1000 genomes]
rs203352	0.95[EUR][1000 genomes]
rs203361	0.96[EUR][1000 genomes]
rs203364	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs203366	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs203368	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2240309	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2240310	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs369180	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3847957	0.92[EUR][1000 genomes]
rs385844	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3858710	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs385930	0.96[EUR][1000 genomes]
rs385959	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs386259	0.96[EUR][1000 genomes]
rs386928	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs390366	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs393773	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs394155	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs400551	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs405300	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs407464	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs407692	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs413236	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs432718	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs433091	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs440299	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4462403	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4766949	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767843	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4767844	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs574142	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs574155	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs679381	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs679773	0.88[EUR][1000 genomes]
rs7133437	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7136729	0.89[EUR][1000 genomes]
rs7300010	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7953072	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7967982	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7969405	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs804716	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs804717	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120185400-120227200	Strong transcription	Dnd41	blood
2	chr12:120188000-120228800	Weak transcription	HSMMtube	muscle
3	chr12:120189400-120225600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:120190000-120244800	Weak transcription	Primary B cells from cord blood	blood
5	chr12:120190200-120226400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:120191200-120235600	Weak transcription	Colonic Mucosa	Colon
7	chr12:120199200-120241000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:120208600-120226600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:120209400-120293600	Weak transcription	Primary T cells from cord blood	blood
10	chr12:120210000-120228800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:120210000-120235400	Weak transcription	Brain Angular Gyrus	brain
12	chr12:120210000-120239200	Weak transcription	Fetal Brain Female	brain
13	chr12:120210600-120226600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:120210800-120231400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:120213800-120226800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:120214600-120241000	Weak transcription	Fetal Intestine Large	intestine
17	chr12:120217400-120225200	Strong transcription	Thymus	Thymus
18	chr12:120217800-120228600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:120218800-120226200	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:120218800-120226600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:120218800-120241000	Weak transcription	Fetal Kidney	kidney
22	chr12:120218800-120241200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:120219000-120241400	Weak transcription	NHEK	skin
24	chr12:120220000-120225000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:120220000-120240600	Weak transcription	Fetal Lung	lung
26	chr12:120220200-120225000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:120220200-120225000	Strong transcription	Fetal Stomach	stomach
28	chr12:120221600-120241000	Weak transcription	NH-A	brain
29	chr12:120221600-120241400	Weak transcription	HMEC	breast
30	chr12:120221800-120241400	Weak transcription	HSMM	muscle
31	chr12:120222000-120226400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:120222000-120229200	Weak transcription	NHDF-Ad	bronchial
33	chr12:120222000-120231200	Weak transcription	K562	blood
34	chr12:120222000-120241200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:120222400-120230400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:120222400-120231600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:120222800-120225000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:120222800-120226400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:120222800-120229000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:120222800-120231200	Weak transcription	NHLF	lung
41	chr12:120222800-120241000	Weak transcription	Fetal Intestine Small	intestine
42	chr12:120223000-120226400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:120223000-120226400	Weak transcription	Hela-S3	cervix
44	chr12:120223000-120232200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:120223000-120234200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:120223000-120239800	Weak transcription	Brain Germinal Matrix	brain
47	chr12:120223000-120255800	Weak transcription	HepG2	liver
48	chr12:120223000-120314400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:120223200-120226200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:120223200-120231200	Weak transcription	H9 Cell Line	embryonic stem cell

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