Variant report

Variant	rs540823036
Chromosome Location	chr8:120136277-120136278
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1804892	chr8:120120429-120161140	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1810588	chr8:120120429-120168446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1808446	chr8:120120901-120168446	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv1812136	chr8:120127586-120161140	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1810758	chr8:120135125-120161140	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1814238	chr8:120135125-120161140	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv612062	chr8:120135125-120161140	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120134600-120137800	Weak transcription	NH-A	brain
2	chr8:120134800-120137200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:120134800-120137400	Weak transcription	Osteobl	bone
4	chr8:120134800-120141600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:120134800-120141600	Weak transcription	NHEK	skin
6	chr8:120134800-120141800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:120134800-120147600	Weak transcription	HMEC	breast
8	chr8:120136000-120136400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:120136000-120136400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:120136000-120136600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr8:120136000-120136600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:120136000-120136600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:120136000-120136600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:120136000-120136600	Enhancers	HUVEC	blood vessel
15	chr8:120136000-120136800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:120136000-120137800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:120136200-120137000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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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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