Variant report

Variant	rs554726475
Chromosome Location	chr12:122283424-122283425
allele	A/G
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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv2433173	chr12:122281855-122283681	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3427750	chr12:122282219-122284417	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3441187	chr12:122282760-122283613	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3430959	chr12:122282794-122283592	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3498685	chr12:122282799-122283456	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3489304	chr12:122282827-122283557	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3489305	chr12:122282827-122283557	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122278200-122294000	Weak transcription	Spleen	Spleen
2	chr12:122278200-122296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:122278400-122283600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:122278400-122293000	Weak transcription	GM12878-XiMat	blood
5	chr12:122278400-122295400	Weak transcription	Fetal Intestine Small	intestine
6	chr12:122278600-122283600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:122278800-122283600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:122278800-122283800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:122278800-122287200	Weak transcription	Primary B cells from cord blood	blood
10	chr12:122281400-122292600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:122281800-122284800	Weak transcription	Placenta	Placenta
12	chr12:122281800-122286400	Weak transcription	HepG2	liver
13	chr12:122281800-122288600	Strong transcription	Liver	Liver
14	chr12:122282000-122287800	Weak transcription	K562	blood
15	chr12:122283000-122284200	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:122283400-122286000	Enhancers	Primary monocytes fromperipheralblood	blood

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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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