Variant report

Variant	rs2682872
Chromosome Location	chr2:187585043-187585044
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	chr2:187584327..187587895-chr2:187590240..187593578,4	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1349170	1.00[EUR][1000 genomes]
rs1375447	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1449088	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1449090	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1449091	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1470602	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16828136	0.85[ASN][1000 genomes]
rs1839122	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2122177	1.00[EUR][1000 genomes]
rs2167013	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2247924	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2442316	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2442318	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2594702	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2594703	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594704	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595377	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2595379	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2595388	1.00[EUR][1000 genomes]
rs2682852	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2682853	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2682854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682858	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2682859	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2682860	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2682861	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2682866	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682869	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2682870	0.85[ASN][1000 genomes]
rs2682874	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4309547	1.00[EUR][1000 genomes]
rs57306419	1.00[EUR][1000 genomes]
rs59855103	1.00[EUR][1000 genomes]
rs6761687	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73035695	1.00[EUR][1000 genomes]
rs7556971	0.85[ASN][1000 genomes]
rs976693	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[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:16 , 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	chr2:187584400-187585600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:187584400-187585800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:187584400-187587800	Weak transcription	Brain Germinal Matrix	brain
6	chr2:187584400-187589000	Weak transcription	Brain Angular Gyrus	brain
7	chr2:187584400-187590400	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:187584600-187585600	Weak transcription	Brain Anterior Caudate	brain
9	chr2:187584600-187587400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:187584600-187587800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:187584600-187588400	Weak transcription	Fetal Brain Male	brain
12	chr2:187584600-187590200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:187584600-187590600	Weak transcription	Fetal Brain Female	brain
14	chr2:187584600-187591600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:187584600-187591800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:187584600-187596000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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