Variant report

Variant	rs12246351
Chromosome Location	chr10:4283835-4283836
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	chr10:4280040..4281988-chr10:4283638..4285219,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11252407	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11252427	1.00[EUR][1000 genomes]
rs11252428	1.00[EUR][1000 genomes]
rs11815588	1.00[EUR][1000 genomes]
rs11819395	1.00[EUR][1000 genomes]
rs12250485	1.00[EUR][1000 genomes]
rs12266164	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1616203	1.00[EUR][1000 genomes]
rs1679445	1.00[EUR][1000 genomes]
rs1679453	1.00[EUR][1000 genomes]
rs1923398	1.00[EUR][1000 genomes]
rs4142671	1.00[EUR][1000 genomes]
rs55880712	1.00[EUR][1000 genomes]
rs60543757	1.00[EUR][1000 genomes]
rs7087506	1.00[EUR][1000 genomes]
rs7097687	1.00[EUR][1000 genomes]
rs7098580	1.00[EUR][1000 genomes]
rs73590778	1.00[EUR][1000 genomes]
rs73590779	1.00[EUR][1000 genomes]
rs73590787	1.00[EUR][1000 genomes]
rs73590789	1.00[EUR][1000 genomes]
rs73592723	1.00[EUR][1000 genomes]
rs74114737	1.00[EUR][1000 genomes]
rs7903376	1.00[EUR][1000 genomes]
rs7913017	1.00[EUR][1000 genomes]
rs7919733	1.00[EUR][1000 genomes]
rs7920841	1.00[EUR][1000 genomes]
rs7924147	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	nsv1044535	chr10:4271872-4306421	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1051538	chr10:4274395-4291004	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1053322	chr10:4279301-4306798	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4276000-4292200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:4276600-4284000	Weak transcription	Left Ventricle	heart
3	chr10:4282000-4286200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:4282200-4286400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr10:4282400-4284200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr10:4282400-4285000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr10:4282600-4284000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:4282600-4284000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr10:4282800-4284000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr10:4282800-4284000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr10:4282800-4284000	Enhancers	Fetal Kidney	kidney
12	chr10:4282800-4284000	Flanking Active TSS	NHLF	lung
13	chr10:4282800-4284000	Flanking Active TSS	Osteobl	bone
14	chr10:4282800-4284800	Active TSS	Right Atrium	heart
15	chr10:4282800-4285000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr10:4282800-4285000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr10:4282800-4285200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr10:4282800-4285200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr10:4282800-4285600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr10:4282800-4285600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr10:4282800-4285600	Enhancers	Fetal Muscle Leg	muscle
22	chr10:4282800-4285800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr10:4282800-4286000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr10:4282800-4286000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:4282800-4286600	Active TSS	Stomach Smooth Muscle	stomach
26	chr10:4282800-4287200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:4283000-4284000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr10:4283000-4284000	Enhancers	NHEK	skin
29	chr10:4283000-4284200	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr10:4283000-4285000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr10:4283000-4286000	Active TSS	Aorta	Aorta
32	chr10:4283200-4284000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:4283200-4284200	Enhancers	Fetal Heart	heart
34	chr10:4283200-4285200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:4283200-4285200	Enhancers	Fetal Stomach	stomach
36	chr10:4283200-4285600	Flanking Active TSS	HMEC	breast
37	chr10:4283200-4285800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr10:4283200-4286000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr10:4283200-4286600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr10:4283200-4286800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:4283400-4284000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:4283400-4284000	Flanking Active TSS	NH-A	brain
43	chr10:4283400-4284200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr10:4283400-4284400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr10:4283400-4285200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr10:4283400-4285400	Enhancers	Fetal Lung	lung
47	chr10:4283600-4284000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:4283600-4284000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr10:4283600-4284200	Weak transcription	Psoas Muscle	Psoas
50	chr10:4283600-4284600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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