Variant report

Variant	rs386928
Chromosome Location	chr12:120226432-120226433
allele	C/T
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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064911	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11064919	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12300601	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[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	0.92[ASN][1000 genomes]
rs203352	0.95[EUR][1000 genomes]
rs203361	0.96[EUR][1000 genomes]
rs203364	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs203366	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs203368	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2240309	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240310	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs369180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847957	0.92[EUR][1000 genomes]
rs385844	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3858710	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs385930	0.96[EUR][1000 genomes]
rs385959	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs386259	0.96[EUR][1000 genomes]
rs390366	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs393773	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs394155	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs400551	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405300	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs407464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs407692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs413236	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432718	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs433091	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs440299	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4462403	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4766948	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4766949	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767843	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4767844	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs574142	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs574155	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs679381	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs679773	0.88[EUR][1000 genomes]
rs7133437	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7136729	0.89[EUR][1000 genomes]
rs7300010	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7953072	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967982	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7969405	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs804716	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804717	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:79 , 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	chr12:120190000-120244800	Weak transcription	Primary B cells from cord blood	blood
4	chr12:120191200-120235600	Weak transcription	Colonic Mucosa	Colon
5	chr12:120199200-120241000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:120208600-120226600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:120209400-120293600	Weak transcription	Primary T cells from cord blood	blood
8	chr12:120210000-120228800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:120210000-120235400	Weak transcription	Brain Angular Gyrus	brain
10	chr12:120210000-120239200	Weak transcription	Fetal Brain Female	brain
11	chr12:120210600-120226600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:120210800-120231400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:120213800-120226800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:120214600-120241000	Weak transcription	Fetal Intestine Large	intestine
15	chr12:120217800-120228600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:120218800-120226600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:120218800-120241000	Weak transcription	Fetal Kidney	kidney
18	chr12:120218800-120241200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:120219000-120241400	Weak transcription	NHEK	skin
20	chr12:120220000-120240600	Weak transcription	Fetal Lung	lung
21	chr12:120221600-120241000	Weak transcription	NH-A	brain
22	chr12:120221600-120241400	Weak transcription	HMEC	breast
23	chr12:120221800-120241400	Weak transcription	HSMM	muscle
24	chr12:120222000-120229200	Weak transcription	NHDF-Ad	bronchial
25	chr12:120222000-120231200	Weak transcription	K562	blood
26	chr12:120222000-120241200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:120222400-120230400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:120222400-120231600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:120222800-120229000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:120222800-120231200	Weak transcription	NHLF	lung
31	chr12:120222800-120241000	Weak transcription	Fetal Intestine Small	intestine
32	chr12:120223000-120232200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr12:120223000-120234200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:120223000-120239800	Weak transcription	Brain Germinal Matrix	brain
35	chr12:120223000-120255800	Weak transcription	HepG2	liver
36	chr12:120223000-120314400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:120223200-120231200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:120223200-120231200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:120223200-120231200	Weak transcription	Fetal Thymus	thymus
40	chr12:120223200-120231200	Weak transcription	GM12878-XiMat	blood
41	chr12:120223200-120239800	Weak transcription	Osteobl	bone
42	chr12:120223200-120242000	Weak transcription	HUVEC	blood vessel
43	chr12:120223400-120231200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:120223400-120231600	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:120223400-120234400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr12:120223400-120234400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:120223600-120231400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr12:120223800-120231000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:120224000-120231200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:120224400-120231000	Weak transcription	H1 Cell Line	embryonic stem cell

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