Variant report

Variant	rs1533918
Chromosome Location	chr12:39215310-39215311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10160990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10732735	0.87[CEU][hapmap]
rs1095573	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1095578	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169105	0.84[AFR][1000 genomes]
rs11169268	0.82[EUR][1000 genomes]
rs11169604	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169615	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169618	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11537523	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11559976	0.84[AFR][1000 genomes]
rs1356267	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs1400281	0.92[EUR][1000 genomes]
rs1486343	0.84[AFR][1000 genomes]
rs1516553	0.81[EUR][1000 genomes]
rs1516557	0.83[EUR][1000 genomes]
rs1523119	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1533917	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1607040	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs1615648	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1621487	0.86[EUR][1000 genomes]
rs1684426	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1719833	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1719847	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1719860	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1914052	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs1996879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2056529	0.92[EUR][1000 genomes]
rs2069210	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2455609	0.84[AFR][1000 genomes]
rs2630778	0.82[CEU][hapmap]
rs2630782	0.84[AFR][1000 genomes]
rs2653754	0.84[AFR][1000 genomes]
rs2653761	0.82[AFR][1000 genomes]
rs2730946	0.84[AFR][1000 genomes]
rs2730955	0.84[AFR][1000 genomes]
rs2730957	0.84[AFR][1000 genomes]
rs4002228	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4768394	0.92[EUR][1000 genomes]
rs56091726	0.88[AFR][1000 genomes]
rs56310820	0.88[AFR][1000 genomes]
rs7136317	0.88[AFR][1000 genomes]
rs7298168	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs73269131	0.84[AFR][1000 genomes]
rs74086007	0.88[AFR][1000 genomes]
rs7974247	0.90[EUR][1000 genomes]
rs7978838	0.82[CEU][hapmap];0.88[EUR][1000 genomes]
rs826839	0.84[AFR][1000 genomes]
rs826841	0.84[AFR][1000 genomes]
rs826845	0.89[EUR][1000 genomes]
rs826847	0.89[EUR][1000 genomes]
rs826849	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs826853	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs826854	0.80[EUR][1000 genomes]
rs826857	0.82[EUR][1000 genomes]
rs826860	0.87[CEU][hapmap]
rs826861	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs826862	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs826867	0.95[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs826868	0.84[EUR][1000 genomes]
rs826869	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs826871	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs826872	0.82[EUR][1000 genomes]
rs826882	0.87[CEU][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs826884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs826885	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs826890	0.84[AFR][1000 genomes]
rs826894	0.85[CEU][hapmap]
rs851933	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs862331	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs862332	0.96[EUR][1000 genomes]
rs866120	1.00[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv676	chr12:39184359-39215822	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	lncRNA	n/a	inside rSNPs	diseases
2	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39201800-39216600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:39203200-39220200	Weak transcription	Psoas Muscle	Psoas
3	chr12:39203200-39276000	Weak transcription	Aorta	Aorta
4	chr12:39203600-39216800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:39204000-39284800	Weak transcription	Lung	lung
6	chr12:39204200-39216800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:39204800-39228800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:39204800-39231800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:39205000-39217000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:39205600-39223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:39205600-39229400	Weak transcription	HMEC	breast
12	chr12:39206000-39216800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:39206400-39225800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:39206600-39217400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:39206600-39220000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:39206600-39243800	Weak transcription	Left Ventricle	heart
17	chr12:39206600-39249200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:39206800-39215600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:39206800-39217000	Weak transcription	Adipose Nuclei	Adipose
20	chr12:39206800-39221400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:39206800-39226200	Weak transcription	GM12878-XiMat	blood
22	chr12:39206800-39241400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:39206800-39241400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:39207000-39218400	Weak transcription	Liver	Liver
25	chr12:39213600-39219400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr12:39213800-39215400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr12:39214000-39215600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:39214200-39217400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:39214400-39216600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:39215000-39216000	Strong transcription	Hela-S3	cervix
31	chr12:39215000-39218600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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