Variant report

Variant	rs12572602
Chromosome Location	chr10:4727107-4727108
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:4726532..4729778-chr10:4736353..4738324,3	MCF-7	breast:
2	chr10:4721349..4725146-chr10:4726234..4729626,7	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11252656	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11252657	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11252658	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11252660	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11252662	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1498272	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498273	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133411	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242771	0.80[ASN][1000 genomes]
rs4992184	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7080649	0.82[ASN][1000 genomes]
rs924288	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894787	chr10:4385379-4857717	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv1798456	chr10:4689138-4731081	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1817443	chr10:4689138-4731081	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1831014	chr10:4689138-4731081	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1838419	chr10:4689138-4731081	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr10:4721000-4727800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr10:4721200-4728400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr10:4721200-4729000	Weak transcription	NHDF-Ad	bronchial
4	chr10:4721200-4733600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:4721600-4727200	Weak transcription	HUVEC	blood vessel
6	chr10:4721800-4727200	Weak transcription	Psoas Muscle	Psoas
7	chr10:4725600-4728800	Enhancers	A549	lung
8	chr10:4725800-4728400	Enhancers	HMEC	breast
9	chr10:4725800-4729000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:4725800-4730000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:4725800-4730800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:4726000-4727800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:4726000-4728200	Enhancers	NHEK	skin
14	chr10:4726000-4730800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:4726400-4729000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr10:4726600-4727400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:4726600-4728200	Enhancers	NH-A	brain
18	chr10:4726600-4728200	Weak transcription	Osteobl	bone
19	chr10:4726600-4728800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr10:4726800-4727800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr10:4726800-4728000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr10:4727000-4727200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr10:4727000-4728200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr10:4727000-4728200	Enhancers	Fetal Muscle Leg	muscle
25	chr10:4727000-4728400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:4727000-4728600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr10:4727000-4730000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr10:4727000-4731200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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