Variant report

Variant	rs713288
Chromosome Location	chr12:41906978-41906979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41903994..41905628-chr12:41905672..41908634,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10161143	0.88[AMR][1000 genomes]
rs10506194	1.00[EUR][1000 genomes]
rs10506196	1.00[EUR][1000 genomes]
rs10880084	1.00[EUR][1000 genomes]
rs10880090	1.00[EUR][1000 genomes]
rs11180970	1.00[EUR][1000 genomes]
rs11180971	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180972	1.00[EUR][1000 genomes]
rs11180973	1.00[EUR][1000 genomes]
rs11180974	1.00[EUR][1000 genomes]
rs11180975	1.00[EUR][1000 genomes]
rs11180976	1.00[EUR][1000 genomes]
rs11180978	1.00[EUR][1000 genomes]
rs11180982	1.00[EUR][1000 genomes]
rs11180983	1.00[EUR][1000 genomes]
rs11180995	1.00[EUR][1000 genomes]
rs11180997	1.00[EUR][1000 genomes]
rs11181000	1.00[EUR][1000 genomes]
rs12227540	1.00[EUR][1000 genomes]
rs12298553	0.84[AMR][1000 genomes]
rs12300549	0.82[AMR][1000 genomes]
rs12305318	0.82[AMR][1000 genomes]
rs12307517	0.84[AMR][1000 genomes]
rs12581707	1.00[EUR][1000 genomes]
rs1350433	0.88[AMR][1000 genomes]
rs1458155	0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1458172	1.00[EUR][1000 genomes]
rs1458173	1.00[EUR][1000 genomes]
rs17129351	0.86[AMR][1000 genomes]
rs17129405	0.91[AMR][1000 genomes]
rs17129413	0.88[AMR][1000 genomes]
rs17129436	1.00[EUR][1000 genomes]
rs17129441	0.86[AMR][1000 genomes]
rs17835484	1.00[EUR][1000 genomes]
rs1817270	0.84[AMR][1000 genomes]
rs2034922	0.86[AMR][1000 genomes]
rs2125289	1.00[EUR][1000 genomes]
rs2252312	1.00[EUR][1000 genomes]
rs2405924	0.84[AMR][1000 genomes]
rs285553	0.83[CHB][hapmap]
rs2897270	0.88[AMR][1000 genomes]
rs35577124	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs3761676	0.86[AMR][1000 genomes]
rs4635145	0.94[CHB][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57991277	0.86[AMR][1000 genomes]
rs58573939	0.84[AMR][1000 genomes]
rs59662716	0.84[AMR][1000 genomes]
rs59955144	1.00[EUR][1000 genomes]
rs60903037	0.86[AMR][1000 genomes]
rs6582337	0.94[CHB][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7297699	0.82[AMR][1000 genomes]
rs7307387	0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs731979	0.88[CHB][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73278055	0.84[AMR][1000 genomes]
rs74077585	0.84[AMR][1000 genomes]
rs74077591	0.84[AMR][1000 genomes]
rs7960293	0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv826349	chr12:41878846-41911495	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41898600-41915400	Weak transcription	Aorta	Aorta
2	chr12:41902000-41909400	Enhancers	Brain Germinal Matrix	brain
3	chr12:41902200-41908000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:41902400-41907400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:41902400-41907800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:41902400-41915000	Weak transcription	Brain Anterior Caudate	brain
7	chr12:41902600-41907600	Weak transcription	Brain Substantia Nigra	brain
8	chr12:41902600-41907800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:41902600-41907800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:41903800-41907400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:41904400-41908800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:41904600-41915600	Weak transcription	Fetal Kidney	kidney
13	chr12:41904800-41907400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:41905000-41908000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:41905200-41916400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:41905400-41907600	Weak transcription	Fetal Heart	heart
17	chr12:41905600-41907600	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:41906000-41907000	Enhancers	HUVEC	blood vessel
19	chr12:41906200-41907000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr12:41906200-41907800	Enhancers	Fetal Stomach	stomach
21	chr12:41906400-41907600	Weak transcription	Fetal Lung	lung
22	chr12:41906600-41907200	Weak transcription	Fetal Brain Male	brain
23	chr12:41906800-41907400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr12:41906800-41909000	Enhancers	Fetal Brain Female	brain

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