Variant report

Variant	rs1020649
Chromosome Location	chr8:126579573-126579574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1551396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2219142	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4006555	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs897148	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs897149	0.94[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs897150	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126569200-126580200	Weak transcription	Left Ventricle	heart
2	chr8:126569800-126588200	Weak transcription	Spleen	Spleen
3	chr8:126572600-126581200	Weak transcription	HMEC	breast
4	chr8:126575400-126580200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:126575400-126580400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:126576200-126581200	Weak transcription	NHDF-Ad	bronchial
7	chr8:126576400-126580400	Weak transcription	Adipose Nuclei	Adipose
8	chr8:126576400-126580400	Weak transcription	Right Atrium	heart
9	chr8:126576400-126581600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:126576400-126581800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:126578800-126582400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:126578800-126583800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:126578800-126586600	Weak transcription	Liver	Liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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