Variant report

Variant	rs2731444
Chromosome Location	chr12:51089365-51089366
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51089330..51091311-chr12:51418219..51420142,2	K562	blood:
2	chr12:51087988..51090769-chr12:51092330..51094240,2	K562	blood:

Variant related genes	Relation type
ENSG00000110911	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10431532	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10431533	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10732734	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10747582	1.00[EUR][1000 genomes]
rs10876040	1.00[MEX][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10876079	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1096028	1.00[EUR][1000 genomes]
rs1096029	1.00[EUR][1000 genomes]
rs11169464	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12146806	1.00[MEX][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300290	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12302810	0.89[AMR][1000 genomes]
rs12302812	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12307085	0.87[AMR][1000 genomes]
rs12321891	1.00[MEX][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322206	0.82[ASW][hapmap];0.86[LWK][hapmap];0.91[MKK][hapmap]
rs12322925	1.00[MEX][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1464436	1.00[EUR][1000 genomes]
rs1465860	0.96[AFR][1000 genomes]
rs1595597	1.00[EUR][1000 genomes]
rs1642998	1.00[EUR][1000 genomes]
rs1879622	1.00[EUR][1000 genomes]
rs1975351	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2037453	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2253376	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2359188	1.00[EUR][1000 genomes]
rs2464125	0.87[LWK][hapmap];0.91[MKK][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2468378	0.82[ASW][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2554869	1.00[EUR][1000 genomes]
rs2684895	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684896	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684897	0.82[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684904	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684905	0.82[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684907	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684909	1.00[MEX][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700476	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700477	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700481	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731435	0.87[YRI][hapmap]
rs2731437	0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731438	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731441	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731445	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731446	0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731447	0.82[ASW][hapmap];1.00[MEX][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731448	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4259895	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4293196	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4334109	1.00[EUR][1000 genomes]
rs4491331	1.00[EUR][1000 genomes]
rs4617660	1.00[EUR][1000 genomes]
rs4768896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768897	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768898	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768908	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4768910	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4768919	1.00[EUR][1000 genomes]
rs6421169	1.00[EUR][1000 genomes]
rs6580758	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580759	0.87[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580762	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7310522	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7312349	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7313783	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7954152	1.00[EUR][1000 genomes]
rs7966009	1.00[EUR][1000 genomes]
rs7976281	1.00[MEX][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes]
rs829116	1.00[EUR][1000 genomes]
rs829117	1.00[EUR][1000 genomes]
rs829118	1.00[EUR][1000 genomes]
rs829119	1.00[EUR][1000 genomes]
rs829121	1.00[EUR][1000 genomes]
rs829136	1.00[EUR][1000 genomes]
rs829137	1.00[EUR][1000 genomes]
rs829138	1.00[EUR][1000 genomes]
rs939632	0.87[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs939634	0.83[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9634263	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9804978	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9943796	1.00[EUR][1000 genomes]

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51028400-51092400	Weak transcription	Gastric	stomach
2	chr12:51041800-51091400	Weak transcription	Pancreas	Pancrea
3	chr12:51049200-51108600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:51053200-51092400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:51057000-51089600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:51059400-51089600	Weak transcription	Small Intestine	intestine
7	chr12:51060000-51101200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:51060200-51108200	Weak transcription	Stomach Mucosa	stomach
9	chr12:51062600-51091800	Strong transcription	Liver	Liver
10	chr12:51063200-51138600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr12:51063600-51138800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr12:51063600-51145400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:51064000-51109800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr12:51064000-51127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:51064800-51090000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:51064800-51095800	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr12:51067400-51106200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:51067400-51120600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:51067400-51143600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:51067600-51142200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:51068200-51095200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:51068200-51106200	Strong transcription	Fetal Thymus	thymus
23	chr12:51068200-51141200	Strong transcription	Placenta	Placenta
24	chr12:51068200-51144000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:51068400-51095000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:51071000-51089400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:51073000-51090600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:51074200-51106000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr12:51074600-51109800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr12:51074600-51139600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:51075200-51098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:51076600-51102600	Strong transcription	Adipose Nuclei	Adipose
33	chr12:51079200-51094800	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr12:51079200-51094800	Strong transcription	Dnd41	blood
35	chr12:51079200-51120600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:51079400-51095200	Strong transcription	Fetal Muscle Leg	muscle
37	chr12:51079600-51094800	Strong transcription	Primary hematopoietic stem cells	blood
38	chr12:51080200-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:51082400-51090000	Weak transcription	Fetal Kidney	kidney
40	chr12:51083400-51090000	Weak transcription	Right Ventricle	heart
41	chr12:51083400-51126000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:51084600-51102400	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:51084600-51106000	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:51084800-51094800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:51084800-51095600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:51085200-51092000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:51085400-51089400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:51085400-51090000	Strong transcription	Lung	lung
49	chr12:51085400-51092400	Weak transcription	Fetal Heart	heart
50	chr12:51085600-51118400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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