Variant report

Variant	esv3400027
Chromosome Location	chr10:542061-542749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:540598..544173-chr10:734342..736581,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151240	chromatin interactions

Extended variants
information (count: 43 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537783221	chr10:542071-542072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs144200844	chr10:542088-542089	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569733193	chr10:542118-542119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs114495210	chr10:542125-542126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555353020	chr10:542127-542128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574183832	chr10:542141-542142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs114076217	chr10:542143-542144	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187784006	chr10:542166-542167	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs11252772	chr10:542167-542168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs578219595	chr10:542185-542186	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148588959	chr10:542191-542192	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557150576	chr10:542204-542205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs61839553	chr10:542219-542220	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371091987	chr10:542228-542229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs61839554	chr10:542259-542260	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs370687969	chr10:542286-542287	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542715382	chr10:542288-542289	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544530172	chr10:542300-542301	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573025853	chr10:542318-542319	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112546472	chr10:542322-542323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528467598	chr10:542323-542324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs397736671	chr10:542326-542327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs545413146	chr10:542363-542364	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs375250312	chr10:542402-542403	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544711181	chr10:542429-542430	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs193135769	chr10:542430-542431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs549973726	chr10:542437-542438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs563473124	chr10:542440-542441	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185650906	chr10:542442-542443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549088794	chr10:542463-542464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs72774530	chr10:542487-542488	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560605737	chr10:542518-542519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373606232	chr10:542550-542551	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs116674732	chr10:542553-542554	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs571816300	chr10:542574-542575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs114496014	chr10:542580-542581	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560223497	chr10:542590-542591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs372263166	chr10:542613-542614	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575179866	chr10:542630-542631	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs116546094	chr10:542684-542685	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573906526	chr10:542686-542687	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536490235	chr10:542716-542717	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs189082908	chr10:542725-542726	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:531400-545800	Weak transcription	Gastric	stomach
2	chr10:532000-544400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr10:532000-557000	Weak transcription	Pancreas	Pancrea
4	chr10:532800-543200	Weak transcription	Fetal Intestine Small	intestine
5	chr10:537200-549400	Weak transcription	Esophagus	oesophagus
6	chr10:537200-551400	Weak transcription	Spleen	Spleen
7	chr10:537400-545800	Weak transcription	Fetal Intestine Large	intestine
8	chr10:537600-544600	Weak transcription	NH-A	brain
9	chr10:537600-547800	Enhancers	Rectal Smooth Muscle	rectum
10	chr10:537600-556600	Weak transcription	HSMM	muscle
11	chr10:537800-544600	Weak transcription	Fetal Heart	heart
12	chr10:538000-546400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:538000-552600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr10:538400-543200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:538400-543400	Weak transcription	Ovary	ovary
16	chr10:538400-544200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:538400-545000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:538800-544200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr10:538800-544600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr10:539200-546600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:539400-543400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr10:539400-544600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr10:539400-545000	Weak transcription	Fetal Lung	lung
24	chr10:539400-546200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:539600-544200	Weak transcription	Adipose Nuclei	Adipose
26	chr10:539800-552800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:540000-545000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:540000-556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:540200-544800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr10:540200-545200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr10:540200-545600	Weak transcription	Fetal Thymus	thymus
32	chr10:540400-543200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr10:540600-544600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr10:540600-545400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr10:540800-542600	Enhancers	Colon Smooth Muscle	Colon
36	chr10:540800-542800	Enhancers	Brain Substantia Nigra	brain
37	chr10:540800-543400	Weak transcription	Fetal Stomach	stomach
38	chr10:540800-543400	Weak transcription	Left Ventricle	heart
39	chr10:540800-543800	Weak transcription	Right Ventricle	heart
40	chr10:540800-544000	Weak transcription	Right Atrium	heart
41	chr10:540800-548000	Weak transcription	HSMMtube	muscle
42	chr10:541000-542200	Enhancers	Stomach Smooth Muscle	stomach
43	chr10:541000-543000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr10:541000-546000	Weak transcription	Psoas Muscle	Psoas
45	chr10:541200-542600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr10:541200-543400	Weak transcription	Brain Angular Gyrus	brain
47	chr10:541200-544200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr10:541400-542600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr10:541400-542600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr10:541400-543200	Weak transcription	Brain Inferior Temporal Lobe	brain

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