Variant report

Variant	rs2996028
Chromosome Location	chr12:120165155-120165156
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	chr12:120157930..120159494-chr12:120164528..120166631,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10849691	0.89[ASN][1000 genomes]
rs10849692	0.88[ASN][1000 genomes]
rs11064884	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1122119	0.89[EUR][1000 genomes]
rs12296121	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1318272	1.00[CEU][hapmap];0.93[GIH][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs175877	0.95[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs175879	0.82[CHB][hapmap]
rs202984	0.86[ASN][1000 genomes]
rs202985	0.82[CHB][hapmap]
rs203326	0.82[CHB][hapmap]
rs203327	1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs203329	0.96[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];0.88[TSI][hapmap]
rs203330	0.96[CEU][hapmap]
rs203331	0.82[CHB][hapmap]
rs203332	0.81[CHD][hapmap]
rs2074052	0.96[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap]
rs2285595	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs278108	0.91[CHB][hapmap]
rs278109	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs278110	0.84[EUR][1000 genomes]
rs278111	0.90[ASN][1000 genomes]
rs278115	0.88[ASN][1000 genomes]
rs278117	0.86[ASN][1000 genomes]
rs278118	0.86[ASN][1000 genomes]
rs278128	0.82[CHB][hapmap]
rs278129	0.82[CHB][hapmap]
rs278130	0.82[CHB][hapmap]
rs278131	0.82[CHB][hapmap]
rs278135	0.82[CHB][hapmap]
rs278137	1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs278141	0.85[ASN][1000 genomes]
rs278142	0.86[CHB][hapmap]
rs2936830	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2936831	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936832	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2952403	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2952444	0.96[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs2996027	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2996029	0.86[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2996030	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3213625	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213626	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35070805	0.93[ASN][1000 genomes]
rs402811	0.85[ASN][1000 genomes]
rs404447	0.86[ASN][1000 genomes]
rs4766946	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766947	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767839	0.85[CEU][hapmap];0.86[CHB][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767841	0.83[ASN][1000 genomes]
rs6490269	0.93[CEU][hapmap]
rs7131914	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7132952	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7299963	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303046	0.88[ASN][1000 genomes]
rs7961569	0.85[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs904654	0.96[CEU][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs904655	0.85[CEU][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.80[TSI][hapmap]

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120116800-120201800	Weak transcription	Fetal Heart	heart
2	chr12:120121200-120173400	Weak transcription	Primary B cells from cord blood	blood
3	chr12:120123400-120182000	Strong transcription	Dnd41	blood
4	chr12:120130800-120182200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:120143800-120211200	Weak transcription	Fetal Brain Male	brain
6	chr12:120145000-120168600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:120149400-120224800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:120151600-120196600	Weak transcription	Gastric	stomach
9	chr12:120151800-120208400	Weak transcription	Fetal Brain Female	brain
10	chr12:120151800-120218600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:120152600-120165200	Weak transcription	Primary T cells from cord blood	blood
12	chr12:120154000-120177200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:120154800-120165800	Weak transcription	NHEK	skin
14	chr12:120154800-120167400	Weak transcription	HMEC	breast
15	chr12:120154800-120170600	Weak transcription	Fetal Kidney	kidney
16	chr12:120154800-120171400	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:120154800-120173400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:120154800-120174600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:120154800-120186000	Weak transcription	NH-A	brain
20	chr12:120154800-120209600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:120155000-120167800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:120155000-120170000	Weak transcription	Hela-S3	cervix
23	chr12:120155000-120171400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:120155000-120172800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:120156200-120168000	Weak transcription	Fetal Intestine Large	intestine
26	chr12:120156200-120171600	Weak transcription	Lung	lung
27	chr12:120156600-120167800	Weak transcription	Fetal Intestine Small	intestine
28	chr12:120156600-120174000	Weak transcription	Esophagus	oesophagus
29	chr12:120156600-120221400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:120156800-120171800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:120156800-120173000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:120156800-120182600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:120157200-120165600	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:120157800-120165800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:120157800-120167800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:120157800-120170600	Weak transcription	NHLF	lung
37	chr12:120157800-120171400	Weak transcription	Fetal Lung	lung
38	chr12:120158000-120165400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:120158000-120165400	Weak transcription	GM12878-XiMat	blood
40	chr12:120158000-120167600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:120158000-120171200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:120158000-120173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:120158000-120176800	Weak transcription	Spleen	Spleen
44	chr12:120158000-120186200	Weak transcription	Brain Germinal Matrix	brain
45	chr12:120158000-120186400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:120158200-120172000	Weak transcription	Brain Angular Gyrus	brain
47	chr12:120158400-120170400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:120159600-120165200	Weak transcription	Fetal Stomach	stomach
49	chr12:120159600-120165600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:120159600-120171400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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