Variant report

Variant	rs2595394
Chromosome Location	chr2:187594127-187594128
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187588854..187591621-chr2:187592997..187594763,2	K562	blood:
2	chr2:187588854..187590720-chr2:187592997..187595424,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10178617	1.00[ASN][1000 genomes]
rs10211436	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395234	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13407063	1.00[ASN][1000 genomes]
rs13413716	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422838	1.00[ASN][1000 genomes]
rs13430921	1.00[ASN][1000 genomes]
rs17406098	1.00[ASN][1000 genomes]
rs2122176	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2442317	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594700	1.00[ASN][1000 genomes]
rs2594701	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595382	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595391	1.00[ASN][1000 genomes]
rs2595392	1.00[ASN][1000 genomes]
rs2595398	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682855	1.00[ASN][1000 genomes]
rs2682857	1.00[ASN][1000 genomes]
rs2682862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28616716	1.00[ASN][1000 genomes]
rs3114944	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55666589	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62196179	1.00[ASN][1000 genomes]
rs62197740	1.00[ASN][1000 genomes]
rs62200585	1.00[ASN][1000 genomes]
rs7424602	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7564965	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581547	0.94[AMR][1000 genomes];0.89[EUR][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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187584600-187596000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:187590600-187594600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:187590800-187594400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:187590800-187597800	Weak transcription	Brain Substantia Nigra	brain
5	chr2:187591600-187594600	Enhancers	Brain Anterior Caudate	brain
6	chr2:187591800-187595400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:187592200-187595400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:187592200-187618600	Weak transcription	Osteobl	bone
9	chr2:187592400-187594600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:187592400-187595000	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:187592400-187595800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:187592400-187595800	Weak transcription	Brain Angular Gyrus	brain
13	chr2:187592400-187595800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:187592400-187596000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:187592600-187597400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:187593400-187594800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:187594000-187594200	Enhancers	Fetal Brain Female	brain
18	chr2:187594000-187594600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:187594000-187594600	Enhancers	Fetal Lung	lung
20	chr2:187594000-187595400	Enhancers	Brain Germinal Matrix	brain
21	chr2:187594000-187596200	Enhancers	Fetal Brain Male	brain

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