Variant report

Variant	rs757635
Chromosome Location	chr5:57074976-57074977
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:57074803..57075728-chr5:57758254..57758808,2	MCF-7	breast:
2	chr5:57071682..57076703-chr5:57754129..57758599,8	MCF-7	breast:
3	chr5:57073503..57077581-chr5:57182588..57186166,4	MCF-7	breast:
4	chr5:57071579..57076215-chr5:57753811..57758223,5	MCF-7	breast:
5	chr5:57074874..57076356-chr5:57755786..57757132,8	MCF-7	breast:
6	chr5:57074121..57076922-chr5:57158153..57160204,2	MCF-7	breast:
7	chr5:57074782..57075556-chr5:57183575..57184261,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1016458	0.86[CHB][hapmap];0.90[YRI][hapmap]
rs11738352	0.86[CHB][hapmap];0.90[YRI][hapmap]
rs11749778	0.86[CHB][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs11953600	0.82[AFR][1000 genomes]
rs12519846	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1347072	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347073	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432480	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432481	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476938	0.86[CHB][hapmap];0.90[YRI][hapmap]
rs1816391	0.83[ASN][1000 genomes]
rs1835876	0.83[ASN][1000 genomes]
rs2053013	0.83[ASN][1000 genomes]
rs2215813	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408851	0.81[CEU][hapmap];0.86[CHB][hapmap];0.90[YRI][hapmap]
rs2539731	0.93[ASW][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.91[LWK][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs2539732	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2539734	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs2568533	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2568534	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568535	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568536	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898030	0.83[ASN][1000 genomes]
rs2898031	0.82[ASN][1000 genomes]
rs34611263	0.82[AFR][1000 genomes]
rs34656967	0.83[AFR][1000 genomes]
rs35483666	0.83[ASN][1000 genomes]
rs41465246	0.82[AFR][1000 genomes]
rs4700229	0.83[ASN][1000 genomes]
rs4700230	0.83[ASN][1000 genomes]
rs6887425	0.85[CHB][hapmap];0.89[YRI][hapmap]
rs6892809	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs854025	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs854026	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs854027	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs854030	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs854032	0.99[ASN][1000 genomes]
rs854034	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs887868	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs987671	0.86[CHB][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs988658	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][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:41 , 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	chr5:57065400-57076000	Weak transcription	Aorta	Aorta
3	chr5:57071200-57075000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:57071200-57076400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:57071800-57076600	Enhancers	Fetal Lung	lung
6	chr5:57072200-57075400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:57072400-57076400	Enhancers	Osteobl	bone
8	chr5:57072400-57076600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr5:57072600-57079600	Weak transcription	Ovary	ovary
10	chr5:57072800-57075000	Weak transcription	HMEC	breast
11	chr5:57072800-57075600	Weak transcription	NHEK	skin
12	chr5:57073000-57075400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:57073000-57075600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:57073000-57075800	Enhancers	Liver	Liver
15	chr5:57073200-57075600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:57073200-57076000	Enhancers	HUVEC	blood vessel
17	chr5:57073200-57077000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:57073400-57075600	Weak transcription	HSMMtube	muscle
19	chr5:57073400-57076600	Enhancers	A549	lung
20	chr5:57073600-57075400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:57073800-57076600	Enhancers	Fetal Intestine Large	intestine
22	chr5:57074000-57075000	Enhancers	Pancreas	Pancrea
23	chr5:57074000-57076600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:57074000-57077000	Enhancers	Fetal Heart	heart
25	chr5:57074200-57076800	Enhancers	Fetal Intestine Small	intestine
26	chr5:57074200-57076800	Enhancers	NH-A	brain
27	chr5:57074200-57077000	Enhancers	Stomach Mucosa	stomach
28	chr5:57074600-57075000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:57074600-57075000	Enhancers	HepG2	liver
30	chr5:57074600-57075400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:57074600-57075600	Enhancers	Fetal Kidney	kidney
32	chr5:57074600-57075800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:57074600-57076000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:57074600-57076000	Enhancers	Fetal Stomach	stomach
35	chr5:57074600-57076400	Enhancers	HSMM	muscle
36	chr5:57074800-57075000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:57074800-57075000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:57074800-57075000	Enhancers	Fetal Muscle Leg	muscle
39	chr5:57074800-57075000	Enhancers	Left Ventricle	heart
40	chr5:57074800-57075200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:57074800-57075200	Enhancers	Brain Germinal Matrix	brain

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