Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:187586395..187588666-chr2:187589274..187592197,2	K562	blood:
2	chr2:187584327..187587895-chr2:187590240..187593578,4	K562	blood:
3	chr2:187586601..187588975-chr2:187605009..187606836,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10165992	0.90[EUR][1000 genomes]
rs10931253	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12618322	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12620821	0.90[ASN][1000 genomes]
rs13028008	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1448427	0.82[ASN][1000 genomes]
rs17406229	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17406346	0.80[ASN][1000 genomes]
rs2012128	0.87[EUR][1000 genomes]
rs2121975	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2121976	0.96[EUR][1000 genomes]
rs2460766	0.85[EUR][1000 genomes]
rs2595383	0.86[EUR][1000 genomes]
rs2595386	0.87[EUR][1000 genomes]
rs2595395	0.90[EUR][1000 genomes]
rs2682863	0.88[EUR][1000 genomes]
rs2682868	0.96[EUR][1000 genomes]
rs2682873	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3213964	0.83[ASN][1000 genomes]
rs34056045	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34840521	0.82[ASN][1000 genomes]
rs35348196	0.82[ASN][1000 genomes]
rs55961288	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62173041	0.80[ASN][1000 genomes]
rs6705757	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs930657	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9789704	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187583800-187588600	Weak transcription	Brain Substantia Nigra	brain
2	chr2:187583800-187588800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:187584400-187587800	Weak transcription	Brain Germinal Matrix	brain
4	chr2:187584400-187589000	Weak transcription	Brain Angular Gyrus	brain
5	chr2:187584400-187590400	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:187584600-187587800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:187584600-187588400	Weak transcription	Fetal Brain Male	brain
8	chr2:187584600-187590200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:187584600-187590600	Weak transcription	Fetal Brain Female	brain
10	chr2:187584600-187591600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:187584600-187591800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:187584600-187596000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:187585600-187587600	Enhancers	Brain Anterior Caudate	brain
14	chr2:187585800-187587600	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:187587200-187587600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:187587400-187587600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:187587400-187588000	Enhancers	Brain Inferior Temporal Lobe	brain

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