Variant report

Variant	rs2682852
Chromosome Location	chr2:187550014-187550015
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	chr2:187535669..187538120-chr2:187548739..187551384,2	K562	blood:
2	chr2:187547487..187550393-chr2:187552355..187554929,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1375447	1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs1449088	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1449090	1.00[CHB][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1449091	1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs1470602	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16828026	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16828108	1.00[CHB][hapmap]
rs16828136	1.00[ASN][1000 genomes]
rs1839122	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2167013	1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs2247924	1.00[CHB][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2442316	0.84[AMR][1000 genomes]
rs2442318	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2594698	0.82[ASN][1000 genomes]
rs2594702	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2594703	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2594704	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2595377	1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs2595379	1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs2682853	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2682854	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2682858	1.00[CHB][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2682859	0.84[AMR][1000 genomes]
rs2682860	0.84[AMR][1000 genomes]
rs2682861	1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs2682866	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2682869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2682870	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2682872	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2682874	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3738918	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3754584	1.00[CHB][hapmap]
rs6761687	1.00[CHB][hapmap]
rs7556971	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs976693	1.00[CHB][hapmap];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187538200-187552800	Weak transcription	Brain Substantia Nigra	brain
2	chr2:187539200-187557800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:187541600-187550800	Weak transcription	Lung	lung
4	chr2:187541800-187550400	Weak transcription	Fetal Stomach	stomach
5	chr2:187541800-187552800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:187541800-187558400	Weak transcription	Left Ventricle	heart
7	chr2:187542000-187550200	Weak transcription	Aorta	Aorta
8	chr2:187542000-187550200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:187542000-187555400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:187543400-187558200	Weak transcription	NHDF-Ad	bronchial
11	chr2:187543600-187558200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:187546000-187552000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:187546200-187558200	Weak transcription	Placenta	Placenta
14	chr2:187546800-187558000	Weak transcription	A549	lung

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