Variant report

Variant	esv1821231
Chromosome Location	chr1:113106020-113112746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113100782..113102788-chr1:113105992..113107667,2	MCF-7	breast:
2	chr1:113110138..113112430-chr1:113114535..113117003,2	K562	blood:
3	chr1:113112071..113113822-chr1:113124299..113125920,2	K562	blood:
4	chr1:112935217..112937989-chr1:113105345..113107131,2	K562	blood:

Extended variants
information (count: 247 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11102495	chr1:113106020-113106021	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552923603	chr1:113106044-113106045	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190168061	chr1:113106108-113106109	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56678062	chr1:113106161-113106162	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs185372705	chr1:113106275-113106276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80042498	chr1:113106278-113106279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567967188	chr1:113106368-113106369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12126277	chr1:113106369-113106370	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs111967117	chr1:113106383-113106384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560754027	chr1:113106416-113106417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563668406	chr1:113106419-113106420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs36029940	chr1:113106444-113106445	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs190626022	chr1:113106525-113106526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559761735	chr1:113106546-113106547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528707443	chr1:113106580-113106581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74858614	chr1:113106632-113106633	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12137269	chr1:113106633-113106634	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs114904598	chr1:113106719-113106720	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373154459	chr1:113106727-113106728	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537811447	chr1:113106793-113106794	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116619463	chr1:113106794-113106795	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566904948	chr1:113106816-113106817	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557419591	chr1:113106836-113106837	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535836579	chr1:113106900-113106901	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs137879901	chr1:113106907-113106908	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553251403	chr1:113106924-113106925	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566600393	chr1:113106934-113106935	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538835377	chr1:113106965-113106966	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568959434	chr1:113106967-113106968	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181587441	chr1:113106985-113106986	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576561269	chr1:113107011-113107012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376198576	chr1:113107057-113107058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs578177609	chr1:113107062-113107063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140738092	chr1:113107088-113107089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373164262	chr1:113107109-113107110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554503037	chr1:113107116-113107117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573616082	chr1:113107160-113107161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534893311	chr1:113107209-113107210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557426442	chr1:113107244-113107245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150110353	chr1:113107269-113107270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs57306488	chr1:113107272-113107273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542628298	chr1:113107371-113107372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186633126	chr1:113107372-113107373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192306293	chr1:113107387-113107388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545626520	chr1:113107436-113107437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377497844	chr1:113107440-113107441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565136285	chr1:113107469-113107470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577755352	chr1:113107508-113107509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112363416	chr1:113107543-113107544	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
50	rs550274497	chr1:113107580-113107581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	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
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	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
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113058800-113119400	Weak transcription	HepG2	liver
2	chr1:113060200-113132400	Weak transcription	Pancreas	Pancrea
3	chr1:113062400-113117400	Weak transcription	Psoas Muscle	Psoas
4	chr1:113064400-113132200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:113065200-113114800	Weak transcription	Small Intestine	intestine
6	chr1:113065400-113114600	Weak transcription	Fetal Brain Male	brain
7	chr1:113066000-113114600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:113066000-113132200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:113066200-113114400	Weak transcription	Dnd41	blood
10	chr1:113067000-113117400	Weak transcription	Fetal Thymus	thymus
11	chr1:113070400-113120600	Weak transcription	Right Ventricle	heart
12	chr1:113070600-113111600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:113070600-113112400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:113070600-113112400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:113070600-113117800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:113070600-113120200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:113070600-113132400	Weak transcription	Aorta	Aorta
18	chr1:113072000-113114400	Weak transcription	Brain Anterior Caudate	brain
19	chr1:113076400-113115200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:113080200-113117800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:113080800-113117400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:113081200-113132200	Weak transcription	Primary B cells from cord blood	blood
23	chr1:113081400-113132400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:113081800-113132200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr1:113082000-113106600	Weak transcription	Fetal Kidney	kidney
26	chr1:113082000-113116000	Weak transcription	Left Ventricle	heart
27	chr1:113082000-113117400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:113082200-113118000	Weak transcription	Lung	lung
29	chr1:113083200-113123200	Weak transcription	Right Atrium	heart
30	chr1:113083600-113111600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:113083600-113114400	Weak transcription	Fetal Brain Female	brain
32	chr1:113083600-113117400	Weak transcription	Brain Angular Gyrus	brain
33	chr1:113084000-113114600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:113084000-113131400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:113084200-113110200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:113084200-113114800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr1:113084200-113117400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:113084200-113117400	Weak transcription	Brain Germinal Matrix	brain
39	chr1:113084200-113118000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr1:113084600-113106400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:113084600-113113800	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:113084600-113114400	Weak transcription	Primary T cells from cord blood	blood
43	chr1:113084600-113114600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:113084600-113120600	Weak transcription	Ovary	ovary
45	chr1:113084800-113137000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:113085000-113109800	Weak transcription	Fetal Lung	lung
47	chr1:113085200-113114600	Weak transcription	Placenta	Placenta
48	chr1:113087600-113114400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:113087600-113125800	Weak transcription	Colon Smooth Muscle	Colon
50	chr1:113088400-113132200	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links