Variant report

Variant	esv3319698
Chromosome Location	chr1:10804349-10804808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10797814..10799876-chr1:10804060..10805794,2	K562	blood:
2	chr1:10801419..10805496-chr1:10805680..10808575,3	K562	blood:
3	chr1:10804412..10806275-chr1:10818371..10819913,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147219876	chr1:10804354-10804355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs777116	chr1:10804380-10804381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72470188	chr1:10804381-10804382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573643885	chr1:10804394-10804395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189532411	chr1:10804401-10804402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180729905	chr1:10804402-10804403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187420689	chr1:10804410-10804411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532894395	chr1:10804416-10804417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112048151	chr1:10804419-10804420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564571256	chr1:10804421-10804422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112184800	chr1:10804435-10804436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113395634	chr1:10804443-10804444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs55724327	chr1:10804458-10804459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs55859218	chr1:10804459-10804460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113245805	chr1:10804467-10804468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112624712	chr1:10804491-10804492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112066581	chr1:10804515-10804516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111676380	chr1:10804539-10804540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568432097	chr1:10804683-10804684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535431851	chr1:10804748-10804749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550705435	chr1:10804761-10804762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191792068	chr1:10804769-10804770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147124365	chr1:10804785-10804786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10793600-10806400	Enhancers	Duodenum Mucosa	Duodenum
2	chr1:10796400-10804800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr1:10798800-10804800	Weak transcription	Esophagus	oesophagus
4	chr1:10798800-10806000	Weak transcription	HMEC	breast
5	chr1:10798800-10806600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:10798800-10832000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:10799600-10806200	Weak transcription	Lung	lung
8	chr1:10800000-10811600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:10800000-10816400	Weak transcription	Pancreas	Pancrea
10	chr1:10800800-10811400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:10801400-10807800	Enhancers	Left Ventricle	heart
12	chr1:10802000-10804400	Enhancers	Colon Smooth Muscle	Colon
13	chr1:10802000-10806600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:10802200-10804400	Enhancers	Fetal Brain Male	brain
15	chr1:10802200-10804800	Weak transcription	Gastric	stomach
16	chr1:10802400-10805600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:10802400-10809000	Enhancers	Fetal Heart	heart
18	chr1:10802600-10805000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:10802800-10804800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:10802800-10805000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:10802800-10805200	Weak transcription	Right Atrium	heart
22	chr1:10803000-10804400	Enhancers	Fetal Intestine Large	intestine
23	chr1:10803000-10804400	Enhancers	Stomach Mucosa	stomach
24	chr1:10803400-10804400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:10803400-10804600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr1:10803600-10804800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:10803600-10804800	Weak transcription	Psoas Muscle	Psoas
28	chr1:10803600-10805400	Enhancers	Fetal Muscle Trunk	muscle
29	chr1:10803600-10807400	Enhancers	Fetal Muscle Leg	muscle
30	chr1:10803600-10808800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:10803600-10815400	Weak transcription	Colonic Mucosa	Colon
32	chr1:10803800-10813400	Weak transcription	Small Intestine	intestine
33	chr1:10804000-10805600	Weak transcription	Fetal Brain Female	brain
34	chr1:10804000-10806000	Enhancers	NHEK	skin
35	chr1:10804000-10806200	Enhancers	Liver	Liver
36	chr1:10804000-10806800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:10804200-10804400	Enhancers	HSMMtube	muscle
38	chr1:10804200-10804600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:10804200-10804800	Weak transcription	Fetal Intestine Small	intestine
40	chr1:10804200-10808800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:10804200-10809200	Enhancers	Right Ventricle	heart
42	chr1:10804200-10815400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:10804400-10804800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:10804400-10804800	Weak transcription	Fetal Intestine Large	intestine
45	chr1:10804400-10804800	Weak transcription	HSMMtube	muscle
46	chr1:10804400-10805800	Weak transcription	Stomach Mucosa	stomach
47	chr1:10804400-10811200	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:10804600-10806400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:10804600-10815600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:10804800-10805000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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