Variant report

Variant	esv3349353
Chromosome Location	chr10:702352-704950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:704201-704255	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr10:704223-704291	GM10266	blood:	n/a	n/a
3	MYC	chr10:704010-704125	MCF-7	breast:	n/a	n/a
4	MYC	chr10:704002-704009	MCF-7	breast:	n/a	n/a
5	POLR2A	chr10:703975-704015	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr10:703909-703918	MCF-7	breast:	n/a	n/a
7	POLR2A	chr10:704863-705051	HepG2	liver:	n/a	n/a
8	POLR2A	chr10:703750-703888	MCF-7	breast:	n/a	n/a
9	POLR2A	chr10:704066-704204	MCF-7	breast:	n/a	n/a
10	POLR2A	chr10:703351-703389	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr10:704228-704274	MCF-7	breast:	n/a	n/a
12	POLR2A	chr10:703922-703932	MCF-7	breast:	n/a	n/a
13	POLR2A	chr10:704047-704193	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr10:703411-703472	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr10:704734-705237	HepG2	liver:	n/a	n/a
16	POLR2A	chr10:702840-703117	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr10:703574-703790	Gliobla	brain:	n/a	n/a
18	POLR2A	chr10:703979-704048	MCF-7	breast:	n/a	n/a
19	POLR2A	chr10:703987-704307	A549	lung:	n/a	n/a
20	POLR2A	chr10:704781-705340	H1-neurons	neurons:	n/a	n/a
21	SUZ12	chr10:704853-705236	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000242357	TF binding region

Extended variants
information (count: 109 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531563504	chr10:702355-702356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566937736	chr10:702357-702358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146522871	chr10:702371-702372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61833028	chr10:702390-702391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs375374394	chr10:702420-702421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529973298	chr10:702461-702462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141089296	chr10:702536-702537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78355067	chr10:702570-702571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549267274	chr10:702608-702609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532221426	chr10:702618-702619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551942375	chr10:702666-702667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568935710	chr10:702678-702679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148244055	chr10:702680-702681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562784078	chr10:702686-702687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554618570	chr10:702701-702702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568754114	chr10:702702-702703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534546321	chr10:702711-702712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562281614	chr10:702719-702720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140242889	chr10:702783-702784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184800381	chr10:702815-702816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540027745	chr10:702827-702828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556356509	chr10:702866-702867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576499494	chr10:702886-702887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189438617	chr10:702895-702896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375304575	chr10:702903-702904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147575183	chr10:702981-702982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372225264	chr10:702986-702987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375309348	chr10:702995-702996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs386739762	chr10:702998-702999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191467458	chr10:703000-703001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540173917	chr10:703007-703008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183612536	chr10:703012-703013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115359155	chr10:703023-703024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552370903	chr10:703039-703040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200750051	chr10:703045-703046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12772040	chr10:703050-703051	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs534925370	chr10:703060-703061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562408125	chr10:703082-703083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531467997	chr10:703084-703085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1869920	chr10:703151-703152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1869921	chr10:703154-703155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4082215	chr10:703191-703192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4082216	chr10:703192-703193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28723459	chr10:703228-703229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56228842	chr10:703238-703239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs55789583	chr10:703240-703241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs55645513	chr10:703250-703251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548205537	chr10:703262-703263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs56026234	chr10:703274-703275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs28673946	chr10:703324-703325	Weak transcription Enhancers	n/a	n/a	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	21293372	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:688800-702600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:691200-704200	Weak transcription	HSMM	muscle
3	chr10:691200-704800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr10:691400-704200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:696200-703000	Enhancers	Brain Cingulate Gyrus	brain
6	chr10:696800-702400	Weak transcription	Small Intestine	intestine
7	chr10:697200-704400	Weak transcription	Liver	Liver
8	chr10:697200-705200	Weak transcription	NHLF	lung
9	chr10:698400-723800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:698800-704800	Weak transcription	Fetal Kidney	kidney
11	chr10:699200-706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr10:699200-707000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr10:700200-703200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr10:700200-704800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:700200-704800	Weak transcription	Adipose Nuclei	Adipose
16	chr10:700200-707000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr10:700200-708200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:700400-702800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:700400-703200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr10:700400-704000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:700400-705200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr10:700400-705400	Weak transcription	Colonic Mucosa	Colon
23	chr10:700600-702600	Weak transcription	Right Ventricle	heart
24	chr10:700600-702600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr10:700600-704800	Weak transcription	Fetal Lung	lung
26	chr10:700600-704800	Weak transcription	NH-A	brain
27	chr10:700600-705200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr10:700600-705200	Weak transcription	HUVEC	blood vessel
29	chr10:700600-705600	Weak transcription	Fetal Muscle Leg	muscle
30	chr10:700800-704400	Weak transcription	Colon Smooth Muscle	Colon
31	chr10:700800-704400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr10:700800-705400	Weak transcription	Fetal Stomach	stomach
33	chr10:701000-704000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr10:701200-704400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr10:701200-704400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:701200-704400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr10:701200-704400	Weak transcription	Fetal Heart	heart
38	chr10:701200-704400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr10:701200-704800	Weak transcription	Fetal Intestine Small	intestine
40	chr10:701200-705600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr10:701400-704400	Weak transcription	Psoas Muscle	Psoas
42	chr10:701400-704600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr10:701400-706800	Weak transcription	Stomach Mucosa	stomach
44	chr10:701400-707000	Weak transcription	Lung	lung
45	chr10:701400-707600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr10:701600-702600	Enhancers	Brain Angular Gyrus	brain
47	chr10:701600-702600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr10:701600-702600	Weak transcription	Left Ventricle	heart
49	chr10:701600-702600	Weak transcription	Pancreas	Pancrea
50	chr10:701600-702600	Weak transcription	Spleen	Spleen

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