Variant report

Variant	rs1004278
Chromosome Location	chr7:96638045-96638046
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12533469	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1917937	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34606656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801290	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv824221	chr7:96620279-96669211	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr7:96625000-96644000	Bivalent/Poised TSS	Fetal Brain Female	brain
2	chr7:96628000-96643200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
3	chr7:96634000-96638200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:96634400-96638200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
5	chr7:96635800-96638600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
6	chr7:96636400-96638400	Bivalent/Poised TSS	Fetal Brain Male	brain
7	chr7:96636800-96641000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:96636800-96641400	Weak transcription	Osteobl	bone
9	chr7:96637000-96639200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:96637200-96638400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:96637200-96638400	Genic enhancers	HepG2	liver
12	chr7:96637200-96643400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:96638000-96638200	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
14	chr7:96638000-96639800	Strong transcription	Placenta	Placenta

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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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