Variant report

Variant	rs550503237
Chromosome Location	chr12:123758752-123758753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123754273..123755994-chr12:123758450..123761334,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111328	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123757200-123759200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:123757200-123761800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:123757200-123762400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:123757200-123762600	Weak transcription	GM12878-XiMat	blood
5	chr12:123757200-123773800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:123757200-123774000	Weak transcription	K562	blood
7	chr12:123757200-123782600	Weak transcription	Right Atrium	heart
8	chr12:123757400-123759200	Enhancers	Fetal Brain Male	brain
9	chr12:123757400-123762200	Weak transcription	HUVEC	blood vessel
10	chr12:123757600-123762000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:123757600-123762000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:123757600-123762000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:123757600-123762000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:123757600-123762800	Weak transcription	NH-A	brain
15	chr12:123757600-123773400	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:123757600-123773400	Weak transcription	Fetal Thymus	thymus
17	chr12:123757600-123773800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:123757800-123771400	Weak transcription	A549	lung
19	chr12:123758000-123771600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:123758000-123773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:123758200-123758800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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