Variant report

Variant	esv1255045
Chromosome Location	chr10:703099-703711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1869920	chr10:703151-703152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1869921	chr10:703154-703155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4082215	chr10:703191-703192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4082216	chr10:703192-703193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28723459	chr10:703228-703229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs56228842	chr10:703238-703239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs55789583	chr10:703240-703241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs55645513	chr10:703250-703251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548205537	chr10:703262-703263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs56026234	chr10:703274-703275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs28673946	chr10:703324-703325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28708803	chr10:703334-703335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs28528269	chr10:703336-703337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568105069	chr10:703370-703371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533780175	chr10:703372-703373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369006844	chr10:703384-703385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373593956	chr10:703395-703396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79695810	chr10:703432-703433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111164629	chr10:703467-703468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189650956	chr10:703471-703472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111170460	chr10:703489-703490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111218121	chr10:703542-703543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547727214	chr10:703551-703552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111170461	chr10:703610-703611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111170462	chr10:703636-703637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111170463	chr10:703646-703647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374230169	chr10:703682-703683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377726377	chr10:703711-703712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:691200-704200	Weak transcription	HSMM	muscle
2	chr10:691200-704800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:691400-704200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr10:697200-704400	Weak transcription	Liver	Liver
5	chr10:697200-705200	Weak transcription	NHLF	lung
6	chr10:698400-723800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr10:698800-704800	Weak transcription	Fetal Kidney	kidney
8	chr10:699200-706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr10:699200-707000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr10:700200-703200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr10:700200-704800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:700200-704800	Weak transcription	Adipose Nuclei	Adipose
13	chr10:700200-707000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr10:700200-708200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:700400-703200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr10:700400-704000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:700400-705200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr10:700400-705400	Weak transcription	Colonic Mucosa	Colon
19	chr10:700600-704800	Weak transcription	Fetal Lung	lung
20	chr10:700600-704800	Weak transcription	NH-A	brain
21	chr10:700600-705200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr10:700600-705200	Weak transcription	HUVEC	blood vessel
23	chr10:700600-705600	Weak transcription	Fetal Muscle Leg	muscle
24	chr10:700800-704400	Weak transcription	Colon Smooth Muscle	Colon
25	chr10:700800-704400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr10:700800-705400	Weak transcription	Fetal Stomach	stomach
27	chr10:701000-704000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr10:701200-704400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr10:701200-704400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:701200-704400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr10:701200-704400	Weak transcription	Fetal Heart	heart
32	chr10:701200-704400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr10:701200-704800	Weak transcription	Fetal Intestine Small	intestine
34	chr10:701200-705600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr10:701400-704400	Weak transcription	Psoas Muscle	Psoas
36	chr10:701400-704600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr10:701400-706800	Weak transcription	Stomach Mucosa	stomach
38	chr10:701400-707000	Weak transcription	Lung	lung
39	chr10:701400-707600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr10:701600-704000	Weak transcription	Ovary	ovary
41	chr10:701600-704400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr10:701600-704400	Weak transcription	Brain Germinal Matrix	brain
43	chr10:701600-704400	Weak transcription	Fetal Intestine Large	intestine
44	chr10:701600-704800	Weak transcription	Fetal Brain Male	brain
45	chr10:701600-704800	Weak transcription	Fetal Brain Female	brain
46	chr10:701600-704800	Weak transcription	Gastric	stomach
47	chr10:701600-705600	Weak transcription	Aorta	Aorta
48	chr10:701600-707000	Weak transcription	Right Atrium	heart
49	chr10:701800-703800	Weak transcription	Brain Substantia Nigra	brain
50	chr10:701800-704400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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