Variant report

Variant	rs73019614
Chromosome Location	chr2:173921773-173921774
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	chr2:173920583..173924312-chr2:173940394..173943115,4	MCF-7	breast:
2	chr2:173914253..173918906-chr2:173919243..173923517,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1446979	1.00[EUR][1000 genomes]
rs16861061	1.00[EUR][1000 genomes]
rs16861147	1.00[EUR][1000 genomes]
rs16861224	1.00[EUR][1000 genomes]
rs16861293	1.00[EUR][1000 genomes]
rs2676516	1.00[EUR][1000 genomes]
rs5010643	1.00[EUR][1000 genomes]
rs60607753	1.00[EUR][1000 genomes]
rs6714475	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73016813	1.00[EUR][1000 genomes]
rs73018862	1.00[EUR][1000 genomes]
rs874779	1.00[EUR][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	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173893200-173922000	Weak transcription	Brain Anterior Caudate	brain
2	chr2:173908800-173924200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:173914800-173923400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:173914800-173923400	Weak transcription	Liver	Liver
5	chr2:173915200-173924000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:173915200-173929200	Weak transcription	Fetal Lung	lung
7	chr2:173916800-173923600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:173916800-173927600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:173918400-173923000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:173918800-173922000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:173919000-173921800	Weak transcription	Placenta	Placenta
12	chr2:173920600-173923000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:173920600-173924200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:173920600-173937200	Weak transcription	Psoas Muscle	Psoas
15	chr2:173920800-173922800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:173921200-173921800	Enhancers	Right Atrium	heart
17	chr2:173921200-173925600	Enhancers	Adipose Nuclei	Adipose
18	chr2:173921200-173926400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:173921400-173921800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:173921400-173921800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:173921400-173921800	Enhancers	Left Ventricle	heart
22	chr2:173921400-173921800	Enhancers	Lung	lung
23	chr2:173921400-173921800	Enhancers	Right Ventricle	heart
24	chr2:173921400-173921800	Enhancers	Spleen	Spleen
25	chr2:173921400-173922000	Enhancers	Ovary	ovary
26	chr2:173921400-173922200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:173921400-173922600	Enhancers	NHDF-Ad	bronchial
28	chr2:173921400-173923400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:173921400-173923400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr2:173921400-173923600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:173921600-173921800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:173921600-173921800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:173921600-173922000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:173921600-173923600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:173921600-173923800	Weak transcription	NHEK	skin

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