Variant report

Variant	rs2595398
Chromosome Location	chr2:187589400-187589401
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187588854..187590720-chr2:187592997..187595424,2	K562	blood:
2	chr2:187586395..187588666-chr2:187589274..187592197,2	K562	blood:
3	chr2:187588854..187591621-chr2:187592997..187594763,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10178617	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10211436	1.00[ASN][1000 genomes]
rs13407063	1.00[ASN][1000 genomes]
rs13413716	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422838	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430921	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17406098	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2442317	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594700	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595380	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595381	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595382	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595391	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595392	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595394	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682850	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682851	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682855	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682857	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682862	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682875	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28616716	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3114944	1.00[ASN][1000 genomes]
rs55666589	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56088351	0.89[EUR][1000 genomes]
rs62196179	1.00[ASN][1000 genomes]
rs62197740	1.00[ASN][1000 genomes]
rs62200585	1.00[ASN][1000 genomes]
rs7564965	1.00[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	chr2:187584400-187590400	Weak transcription	Brain Hippocampus Middle	brain
2	chr2:187584600-187590200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:187584600-187590600	Weak transcription	Fetal Brain Female	brain
4	chr2:187584600-187591600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:187584600-187591800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:187584600-187596000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:187587600-187590400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:187588000-187590400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:187588400-187589400	Enhancers	Fetal Brain Male	brain
10	chr2:187588400-187591000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:187588600-187589600	Genic enhancers	Brain Substantia Nigra	brain
12	chr2:187588800-187591000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:187589000-187589400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:187589200-187590600	Enhancers	Brain Anterior Caudate	brain
15	chr2:187589200-187591800	Weak transcription	Brain Angular Gyrus	brain
16	chr2:187589400-187590600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:187589400-187591800	Weak transcription	Fetal Brain Male	brain

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