Variant report

Variant	rs10174402
Chromosome Location	chr2:188213541-188213542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10174460	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10208253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10221846	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10931287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13388347	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13391909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13392210	1.00[AFR][1000 genomes]
rs13396246	0.85[AFR][1000 genomes]
rs13399503	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401664	1.00[AMR][1000 genomes]
rs13401762	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13402842	0.85[AFR][1000 genomes]
rs13405653	1.00[AFR][1000 genomes]
rs13409677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13414158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13427655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13430432	1.00[AFR][1000 genomes]
rs13432027	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13432953	0.81[AFR][1000 genomes]
rs28363963	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28458997	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28585422	1.00[AMR][1000 genomes]
rs6434212	1.00[AMR][1000 genomes]
rs6715996	1.00[AFR][1000 genomes]
rs6721057	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6747392	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6753145	1.00[AFR][1000 genomes]
rs7578599	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7583999	1.00[AMR][1000 genomes]
rs7589584	0.92[AFR][1000 genomes]
rs7592458	1.00[AFR][1000 genomes]
rs7599181	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533935	chr2:188089148-188284766	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv834487	chr2:188182556-188353363	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188203200-188218200	Weak transcription	Aorta	Aorta
2	chr2:188203800-188222400	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:188204000-188253600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:188206800-188213800	Strong transcription	HUVEC	blood vessel
5	chr2:188208800-188250400	Weak transcription	Primary T cells from cord blood	blood
6	chr2:188209000-188229600	Weak transcription	Fetal Thymus	thymus
7	chr2:188209200-188222600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:188209400-188213800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:188209600-188221400	Weak transcription	Fetal Kidney	kidney
10	chr2:188209800-188233400	Weak transcription	Right Ventricle	heart
11	chr2:188210600-188223200	Weak transcription	Left Ventricle	heart
12	chr2:188210800-188215400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:188210800-188248000	Weak transcription	HSMMtube	muscle
14	chr2:188211000-188213800	Weak transcription	Adipose Nuclei	Adipose
15	chr2:188211000-188214000	Weak transcription	Ovary	ovary
16	chr2:188211400-188213800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:188212000-188215400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:188212200-188213800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:188212200-188214000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:188212200-188222600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:188213200-188214000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr2:188213400-188214000	Enhancers	Colon Smooth Muscle	Colon
23	chr2:188213400-188214600	Enhancers	Fetal Lung	lung

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