Variant report

Variant	rs12243053
Chromosome Location	chr10:4320855-4320856
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:4319961..4321650-chr10:4382785..4384705,2	MCF-7	breast:
2	chr10:4311326..4314084-chr10:4320615..4323215,2	MCF-7	breast:
3	chr10:3824995..3829736-chr10:4319547..4324748,15	MCF-7	breast:
4	chr10:4320010..4324018-chr10:4702839..4706546,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067082	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10736989	1.00[EUR][1000 genomes]
rs10736990	1.00[EUR][1000 genomes]
rs10795153	1.00[EUR][1000 genomes]
rs10795154	1.00[EUR][1000 genomes]
rs11252430	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11252434	1.00[EUR][1000 genomes]
rs11252436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12242418	1.00[EUR][1000 genomes]
rs12249271	1.00[EUR][1000 genomes]
rs1926792	1.00[EUR][1000 genomes]
rs2019122	1.00[AMR][1000 genomes]
rs3929825	1.00[EUR][1000 genomes]
rs4366389	1.00[EUR][1000 genomes]
rs4427470	1.00[EUR][1000 genomes]
rs4459181	1.00[EUR][1000 genomes]
rs4465281	1.00[EUR][1000 genomes]
rs4465282	1.00[EUR][1000 genomes]
rs4475833	1.00[EUR][1000 genomes]
rs4598570	1.00[EUR][1000 genomes]
rs4880674	1.00[EUR][1000 genomes]
rs4880675	1.00[EUR][1000 genomes]
rs57376354	1.00[EUR][1000 genomes]
rs6601833	1.00[EUR][1000 genomes]
rs7071967	1.00[EUR][1000 genomes]
rs7084923	1.00[EUR][1000 genomes]
rs7086908	1.00[EUR][1000 genomes]
rs7097103	1.00[EUR][1000 genomes]
rs7916930	1.00[EUR][1000 genomes]
rs9423527	1.00[EUR][1000 genomes]
rs9663282	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799113	chr10:4259123-4332824	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1800792	chr10:4259123-4332824	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1820112	chr10:4259123-4332824	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1822419	chr10:4259123-4332824	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1839293	chr10:4259123-4332824	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1841782	chr10:4259123-4332824	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2757363	chr10:4286880-4323493	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2759728	chr10:4286880-4323493	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv894785	chr10:4306421-4372629	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4307800-4321400	Weak transcription	Pancreas	Pancrea
2	chr10:4309600-4323000	Weak transcription	Lung	lung
3	chr10:4309600-4324600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr10:4312800-4321600	Weak transcription	NHLF	lung
5	chr10:4313000-4322600	Weak transcription	HMEC	breast
6	chr10:4313600-4321000	Weak transcription	Fetal Muscle Leg	muscle
7	chr10:4313600-4321400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:4314200-4321600	Weak transcription	Aorta	Aorta
9	chr10:4316200-4323000	Weak transcription	Gastric	stomach
10	chr10:4318400-4321400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr10:4318800-4323000	Weak transcription	Psoas Muscle	Psoas
12	chr10:4319600-4321200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:4319600-4327600	Enhancers	Fetal Lung	lung
14	chr10:4320400-4321000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr10:4320400-4322200	Enhancers	HSMMtube	muscle
16	chr10:4320400-4327800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:4320400-4327800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr10:4320800-4321200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:4320800-4322600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr10:4320800-4322600	Enhancers	Fetal Heart	heart
21	chr10:4320800-4323200	Enhancers	Fetal Stomach	stomach
22	chr10:4320800-4326600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:4320800-4327400	Enhancers	Stomach Smooth Muscle	stomach

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