Variant report

Variant	rs1347071
Chromosome Location	chr5:57079559-57079560
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:57076851..57079934-chr5:57754416..57757350,4	MCF-7	breast:
2	chr5:57077792..57079742-chr5:57748468..57750917,2	MCF-7	breast:
3	chr5:57077135..57082051-chr5:57753020..57756988,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

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

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

rs_ID	r²[population]
rs10057880	1.00[YRI][hapmap]
rs10072292	1.00[YRI][hapmap]
rs1821210	1.00[YRI][hapmap]
rs1861059	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2408854	1.00[YRI][hapmap]
rs2568537	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4403130	1.00[YRI][hapmap]
rs4458541	1.00[YRI][hapmap]
rs4699913	1.00[YRI][hapmap]
rs4700233	1.00[YRI][hapmap]
rs854036	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr5:57072600-57079600	Weak transcription	Ovary	ovary
2	chr5:57075400-57080400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:57076400-57080200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:57076400-57081800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:57076600-57079600	Weak transcription	Right Atrium	heart
6	chr5:57076600-57079600	Weak transcription	HMEC	breast
7	chr5:57077000-57080000	Weak transcription	Stomach Mucosa	stomach
8	chr5:57078800-57079600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:57079000-57079600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:57079000-57079600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:57079000-57079600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:57079000-57079600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr5:57079000-57079600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:57079000-57079600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:57079000-57079600	Flanking Active TSS	Osteobl	bone
16	chr5:57079000-57079800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:57079000-57080200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr5:57079000-57080600	Enhancers	Fetal Muscle Leg	muscle
19	chr5:57079000-57080800	Enhancers	Fetal Lung	lung
20	chr5:57079200-57079800	Active TSS	HSMM	muscle
21	chr5:57079200-57080000	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr5:57079200-57080000	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr5:57079200-57080000	Active TSS	HSMMtube	muscle
24	chr5:57079200-57080200	Weak transcription	Placenta	Placenta
25	chr5:57079400-57079600	Flanking Active TSS	HUVEC	blood vessel
26	chr5:57079400-57079800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr5:57079400-57080000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:57079400-57080000	Active TSS	Brain Anterior Caudate	brain
29	chr5:57079400-57080000	Active TSS	Psoas Muscle	Psoas
30	chr5:57079400-57080000	Active TSS	NHDF-Ad	bronchial
31	chr5:57079400-57080200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:57079400-57080200	Active TSS	Aorta	Aorta
33	chr5:57079400-57081200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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