Variant report

Variant	rs73280446
Chromosome Location	chr14:68324760-68324761
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	chr14:68324608..68326909-chr14:69260185..69262746,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17104673	0.93[AFR][1000 genomes]
rs17104683	0.93[AFR][1000 genomes]
rs73278443	0.82[AFR][1000 genomes]
rs73278446	0.82[AFR][1000 genomes]
rs73278449	0.82[AFR][1000 genomes]
rs73278454	0.82[AFR][1000 genomes]
rs73278455	0.82[AFR][1000 genomes]
rs73278457	0.82[AFR][1000 genomes]
rs73280420	0.93[AFR][1000 genomes]
rs73280434	0.82[AFR][1000 genomes]
rs73280448	1.00[AFR][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	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68300600-68336200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:68303200-68331800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:68311400-68325800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:68313200-68326400	Weak transcription	Pancreas	Pancrea
5	chr14:68313200-68333400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:68313200-68333800	Weak transcription	Primary T cells from cord blood	blood
7	chr14:68314000-68331400	Weak transcription	Dnd41	blood
8	chr14:68317600-68324800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:68318600-68334400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:68319000-68327600	Weak transcription	Ovary	ovary
11	chr14:68319200-68326400	Weak transcription	Spleen	Spleen
12	chr14:68319200-68334200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr14:68320800-68338600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr14:68321000-68325800	Weak transcription	GM12878-XiMat	blood
15	chr14:68321000-68334000	Weak transcription	Primary B cells from cord blood	blood
16	chr14:68321200-68334400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr14:68321400-68334200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:68322400-68325000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:68322400-68332600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr14:68322600-68334800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr14:68322800-68325000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:68322800-68325000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:68323600-68325000	Weak transcription	Stomach Mucosa	stomach
24	chr14:68324000-68335600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:68324400-68324800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr14:68324400-68325000	Strong transcription	Fetal Intestine Small	intestine
27	chr14:68324400-68325000	Enhancers	Gastric	stomach
28	chr14:68324400-68325600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:68324600-68324800	Enhancers	Esophagus	oesophagus
30	chr14:68324600-68325200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:68324600-68332400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:68324600-68333800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:68324600-68354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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