Variant report

Variant	rs11252427
Chromosome Location	chr10:4308786-4308787
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:3825342..3830573-chr10:4304925..4310190,7	MCF-7	breast:
2	chr10:3823986..3829739-chr10:4306109..4310504,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067082	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11252407	1.00[EUR][1000 genomes]
rs11252428	1.00[EUR][1000 genomes]
rs11815588	1.00[EUR][1000 genomes]
rs11819395	1.00[EUR][1000 genomes]
rs12246351	1.00[EUR][1000 genomes]
rs12250485	1.00[EUR][1000 genomes]
rs12266164	1.00[EUR][1000 genomes]
rs12266930	0.84[AFR][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]
rs58566311	0.84[AFR][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]
rs73584939	0.84[AFR][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[AMR][1000 genomes];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:16 , 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	nsv1036103	chr10:4286880-4311792	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	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
9	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
10	esv3458618	chr10:4293384-4311663	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3458507	chr10:4293418-4311634	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3458730	chr10:4293489-4311565	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1037897	chr10:4294071-4311585	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv33732	chr10:4302983-4318917	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv437653	chr10:4304810-4314845	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4296800-4308800	Weak transcription	Psoas Muscle	Psoas
2	chr10:4301600-4316000	Weak transcription	Gastric	stomach
3	chr10:4303200-4308800	Weak transcription	Fetal Brain Male	brain
4	chr10:4303200-4308800	Weak transcription	HMEC	breast
5	chr10:4303200-4309000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr10:4303200-4312200	Weak transcription	HUVEC	blood vessel
7	chr10:4303400-4308800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr10:4303400-4308800	Weak transcription	Fetal Heart	heart
9	chr10:4303400-4312200	Weak transcription	NHEK	skin
10	chr10:4304000-4309000	Weak transcription	Colon Smooth Muscle	Colon
11	chr10:4305000-4309000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr10:4305600-4309800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr10:4306200-4308800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:4306200-4313400	Weak transcription	Aorta	Aorta
15	chr10:4306400-4308800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:4306400-4308800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:4306400-4308800	Weak transcription	Fetal Stomach	stomach
18	chr10:4306400-4309000	Weak transcription	NHLF	lung
19	chr10:4306400-4312400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr10:4306600-4309000	Weak transcription	Colonic Mucosa	Colon
21	chr10:4306800-4308800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr10:4306800-4309000	Weak transcription	Liver	Liver
23	chr10:4306800-4309000	Weak transcription	Lung	lung
24	chr10:4306800-4309000	Weak transcription	Ovary	ovary
25	chr10:4306800-4309000	Weak transcription	Right Atrium	heart
26	chr10:4306800-4312400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr10:4307000-4309000	Weak transcription	Right Ventricle	heart
28	chr10:4307000-4309400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr10:4307000-4311600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:4307200-4309000	Weak transcription	Left Ventricle	heart
31	chr10:4307200-4312200	Weak transcription	Hela-S3	cervix
32	chr10:4307400-4312200	Weak transcription	Placenta	Placenta
33	chr10:4307800-4309800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr10:4307800-4321400	Weak transcription	Pancreas	Pancrea
35	chr10:4308000-4309000	Enhancers	Primary hematopoietic stem cells	blood
36	chr10:4308000-4309200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr10:4308000-4309200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr10:4308000-4309600	Enhancers	Esophagus	oesophagus
39	chr10:4308000-4309800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr10:4308000-4309800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr10:4308200-4309600	Enhancers	Adipose Nuclei	Adipose
42	chr10:4308200-4309800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr10:4308200-4310000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:4308200-4310000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr10:4308400-4308800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr10:4308400-4308800	Weak transcription	Small Intestine	intestine
47	chr10:4308400-4309000	Weak transcription	Fetal Muscle Leg	muscle
48	chr10:4308400-4309200	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr10:4308600-4308800	Enhancers	Fetal Lung	lung
50	chr10:4308600-4309600	Enhancers	Brain Germinal Matrix	brain

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