Variant report

Variant	rs1378650
Chromosome Location	chr7:136705151-136705152
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10246819	1.00[ASN][1000 genomes]
rs13221430	0.86[EUR][1000 genomes]
rs17506824	0.98[ASN][1000 genomes]
rs6962027	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6967953	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7780181	1.00[ASN][1000 genomes]
rs8191992	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831147	chr7:136583444-136755741	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2753059	chr7:136633745-136893745	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136692600-136710600	Weak transcription	NHLF	lung
2	chr7:136700400-136717400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:136700600-136710600	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:136701000-136710400	Weak transcription	Fetal Stomach	stomach
5	chr7:136701000-136712000	Weak transcription	Left Ventricle	heart
6	chr7:136701600-136705400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:136701800-136708800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:136703600-136705400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:136704600-136705400	Enhancers	Brain Germinal Matrix	brain
10	chr7:136704800-136706400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:136704800-136707000	Weak transcription	Fetal Heart	heart

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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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