Variant report

Variant	rs7729312
Chromosome Location	chr5:57072269-57072270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:57071682..57076703-chr5:57754129..57758599,8	MCF-7	breast:
2	chr5:57071579..57076215-chr5:57753811..57758223,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10063478	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs10077188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12652479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12654850	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12658410	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28489989	0.84[ASN][1000 genomes]
rs60219417	0.89[EUR][1000 genomes]
rs6876911	0.89[EUR][1000 genomes]
rs73089897	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73089900	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7702309	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7713500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57062200-57075000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:57065200-57072400	Weak transcription	Osteobl	bone
3	chr5:57065400-57076000	Weak transcription	Aorta	Aorta
4	chr5:57069200-57072600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:57070000-57074600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:57071200-57072800	Enhancers	Fetal Intestine Large	intestine
7	chr5:57071200-57073400	Enhancers	HSMM	muscle
8	chr5:57071200-57075000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:57071200-57076400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:57071400-57072600	Enhancers	Brain Germinal Matrix	brain
11	chr5:57071400-57073400	Flanking Active TSS	A549	lung
12	chr5:57071400-57073400	Enhancers	HepG2	liver
13	chr5:57071600-57072600	Enhancers	Ovary	ovary
14	chr5:57071600-57073400	Enhancers	HSMMtube	muscle
15	chr5:57071800-57072400	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:57071800-57072800	Enhancers	Stomach Mucosa	stomach
17	chr5:57071800-57073400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:57071800-57076600	Enhancers	Fetal Lung	lung
19	chr5:57072000-57072600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:57072000-57073000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:57072000-57073000	Enhancers	Fetal Kidney	kidney
22	chr5:57072000-57073000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr5:57072000-57073200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:57072000-57073600	Enhancers	Fetal Heart	heart
25	chr5:57072200-57072800	Enhancers	HMEC	breast
26	chr5:57072200-57073000	Active TSS	Liver	Liver
27	chr5:57072200-57073400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:57072200-57075400	Weak transcription	Muscle Satellite Cultured Cells	--

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