Variant report

Variant	rs10447121
Chromosome Location	chr5:57072560-57072561
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	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: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10940574	0.81[EUR][1000 genomes]
rs10940578	0.87[EUR][1000 genomes]
rs12186536	0.87[EUR][1000 genomes]
rs12514617	0.81[EUR][1000 genomes]
rs12514618	0.81[EUR][1000 genomes]
rs12515493	1.00[CEU][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12515736	0.82[EUR][1000 genomes]
rs12517238	0.90[EUR][1000 genomes]
rs12517867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12520466	0.80[EUR][1000 genomes]
rs12522697	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1432482	0.86[EUR][1000 genomes]
rs1544621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17689645	0.80[EUR][1000 genomes]
rs17689832	0.82[EUR][1000 genomes]
rs17690351	0.90[EUR][1000 genomes]
rs17690411	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs17746879	0.90[EUR][1000 genomes]
rs17746968	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs2160057	0.82[EUR][1000 genomes]
rs2160058	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2192367	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2192368	0.82[EUR][1000 genomes]
rs56830694	0.87[EUR][1000 genomes]
rs57200729	0.90[EUR][1000 genomes]
rs58610852	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58632739	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62358372	0.81[EUR][1000 genomes]
rs62358374	0.81[EUR][1000 genomes]
rs62358380	0.82[EUR][1000 genomes]
rs62358381	0.83[EUR][1000 genomes]
rs6450432	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6450433	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6450434	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6450435	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6450437	0.93[EUR][1000 genomes]
rs6870485	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6878042	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs6891648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6894375	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs72751313	0.90[EUR][1000 genomes]
rs72751317	0.90[EUR][1000 genomes]
rs72751318	0.90[EUR][1000 genomes]
rs72751323	0.88[EUR][1000 genomes]
rs72767430	0.80[EUR][1000 genomes]
rs72767434	0.82[EUR][1000 genomes]
rs72767441	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72767444	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs741181	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7718447	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:32 , 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	chr5:57069200-57072600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:57070000-57074600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:57071200-57072800	Enhancers	Fetal Intestine Large	intestine
6	chr5:57071200-57073400	Enhancers	HSMM	muscle
7	chr5:57071200-57075000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:57071200-57076400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:57071400-57072600	Enhancers	Brain Germinal Matrix	brain
10	chr5:57071400-57073400	Flanking Active TSS	A549	lung
11	chr5:57071400-57073400	Enhancers	HepG2	liver
12	chr5:57071600-57072600	Enhancers	Ovary	ovary
13	chr5:57071600-57073400	Enhancers	HSMMtube	muscle
14	chr5:57071800-57072800	Enhancers	Stomach Mucosa	stomach
15	chr5:57071800-57073400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:57071800-57076600	Enhancers	Fetal Lung	lung
17	chr5:57072000-57072600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:57072000-57073000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:57072000-57073000	Enhancers	Fetal Kidney	kidney
20	chr5:57072000-57073000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr5:57072000-57073200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:57072000-57073600	Enhancers	Fetal Heart	heart
23	chr5:57072200-57072800	Enhancers	HMEC	breast
24	chr5:57072200-57073000	Active TSS	Liver	Liver
25	chr5:57072200-57073400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:57072200-57075400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr5:57072400-57072600	Enhancers	Fetal Muscle Leg	muscle
28	chr5:57072400-57072800	Enhancers	NHEK	skin
29	chr5:57072400-57073000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:57072400-57074800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:57072400-57076400	Enhancers	Osteobl	bone
32	chr5:57072400-57076600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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