Variant report

Variant	rs74123709
Chromosome Location	chr13:110357080-110357081
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:110228879..110230744-chr13:110356982..110359196,2	MCF-7	breast:
2	chr13:110355569..110358710-chr13:110439541..110442319,3	MCF-7	breast:
3	chr13:110351496..110354241-chr13:110356886..110361111,4	K562	blood:
4	chr13:110356090..110357900-chr13:110437295..110440917,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185950	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56295116	1.00[AFR][1000 genomes]
rs74123707	1.00[AFR][1000 genomes]
rs74123708	1.00[AFR][1000 genomes]
rs74123714	1.00[AFR][1000 genomes]
rs74123718	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051686	chr13:110283468-110362954	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1044855	chr13:110301572-110408608	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110352400-110357600	Weak transcription	Colonic Mucosa	Colon
2	chr13:110352800-110357400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr13:110352800-110357600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr13:110352800-110357600	Weak transcription	HMEC	breast
5	chr13:110353000-110357600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:110353200-110357200	Weak transcription	Fetal Thymus	thymus
7	chr13:110353200-110357400	Weak transcription	Primary T cells from cord blood	blood
8	chr13:110353200-110357600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr13:110356000-110359200	Genic enhancers	Dnd41	blood
10	chr13:110356400-110357400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr13:110356600-110357200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:110356600-110357400	Enhancers	Primary B cells from cord blood	blood
13	chr13:110356600-110357400	Enhancers	Primary hematopoietic stem cells	blood
14	chr13:110356800-110357200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:110356800-110357200	Weak transcription	Fetal Intestine Small	intestine
16	chr13:110356800-110357400	Enhancers	Duodenum Mucosa	Duodenum
17	chr13:110356800-110357400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr13:110356800-110357600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr13:110356800-110358000	Enhancers	Esophagus	oesophagus
20	chr13:110356800-110358600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr13:110356800-110358600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr13:110357000-110357200	Flanking Active TSS	Liver	Liver
23	chr13:110357000-110357400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr13:110357000-110357600	Flanking Active TSS	A549	lung
25	chr13:110357000-110357800	Weak transcription	Spleen	Spleen
26	chr13:110357000-110358000	Flanking Active TSS	Hela-S3	cervix
27	chr13:110357000-110358800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr13:110357000-110359800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:110357000-110360600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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