Variant report

Variant	rs11063330
Chromosome Location	chr12:4871990-4871991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10492058	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10849132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831080	1.00[JPT][hapmap]
rs11835306	0.89[EUR][1000 genomes]
rs12367189	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369972	0.91[AFR][1000 genomes]
rs12371407	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16931634	1.00[JPT][hapmap]
rs1860346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295581	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296976	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766506	0.94[YRI][hapmap];0.86[AFR][1000 genomes]
rs7957766	0.89[EUR][1000 genomes]
rs7960375	0.90[EUR][1000 genomes]
rs7970332	0.90[EUR][1000 genomes]
rs7975622	0.84[AMR][1000 genomes];0.94[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	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1054218	chr12:4819576-4882667	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4836400-4872400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:4845000-4872600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:4852400-4872400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:4854200-4876000	Weak transcription	Fetal Brain Male	brain
5	chr12:4864600-4872200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:4867200-4880200	Weak transcription	Spleen	Spleen
7	chr12:4867400-4872600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:4867600-4872400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:4867800-4872200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:4868200-4874400	Weak transcription	Left Ventricle	heart
11	chr12:4868800-4874600	Weak transcription	Right Ventricle	heart
12	chr12:4869000-4875400	Weak transcription	Fetal Stomach	stomach
13	chr12:4869600-4873600	Strong transcription	Brain Germinal Matrix	brain
14	chr12:4869600-4875600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:4869800-4884200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:4871000-4872600	Weak transcription	Fetal Brain Female	brain
17	chr12:4871200-4874400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:4871800-4872200	Weak transcription	Brain Substantia Nigra	brain
19	chr12:4871800-4877800	Weak transcription	Brain Hippocampus Middle	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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