Variant report

Variant	rs10889849
Chromosome Location	chr1:70204719-70204720
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10889850	0.92[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs11209528	0.88[ASN][1000 genomes]
rs11209529	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11209530	0.88[ASN][1000 genomes]
rs11209536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12565200	0.92[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs1264338	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1268441	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1340766	0.92[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs1340767	0.88[ASN][1000 genomes]
rs1417441	0.92[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs1417443	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1417444	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1612509	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17397812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1796964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2000091	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2007721	0.92[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs61783996	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61784010	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6667737	0.88[ASN][1000 genomes]
rs6686211	0.88[ASN][1000 genomes]
rs6700510	0.88[ASN][1000 genomes]
rs7524277	0.92[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs987013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70203400-70205600	Enhancers	Fetal Lung	lung
2	chr1:70203600-70205200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:70203600-70205200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:70203600-70205200	Enhancers	Fetal Stomach	stomach
5	chr1:70203600-70205400	Enhancers	Brain Angular Gyrus	brain
6	chr1:70203600-70205800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:70203600-70205800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:70203600-70206400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:70203600-70206400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:70203800-70205200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:70203800-70206000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:70203800-70206000	Enhancers	Brain Anterior Caudate	brain
13	chr1:70203800-70206000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr1:70203800-70206400	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:70204000-70204800	Weak transcription	Fetal Brain Female	brain
16	chr1:70204000-70205000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:70204000-70206200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:70204200-70205000	Enhancers	Brain Substantia Nigra	brain
19	chr1:70204200-70205400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:70204200-70205600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:70204200-70205600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:70204200-70206000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:70204200-70210000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:70204400-70204800	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr1:70204400-70205400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:70204400-70205400	Enhancers	NH-A	brain
27	chr1:70204400-70205800	Enhancers	Fetal Brain Male	brain
28	chr1:70204400-70206400	Enhancers	Brain Germinal Matrix	brain
29	chr1:70204600-70206000	Enhancers	HSMMtube	muscle

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