Variant report

Variant	nsv547613
Chromosome Location	chr1:119042243-119102839
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:119098002..119101415-chr1:119102876..119105399,4	MCF-7	breast:
2	chr1:119076348..119078164-chr1:119100717..119102407,2	MCF-7	breast:
3	chr1:119100585..119102807-chr1:119107328..119110035,2	MCF-7	breast:
4	chr1:119042805..119045350-chr1:119050296..119052660,2	MCF-7	breast:
5	chr1:119076348..119078164-chr1:119100717..119102407,2	MCF-7	breast:
6	chr1:119042805..119045350-chr1:119050296..119052660,2	MCF-7	breast:
7	chr1:119079795..119080727-chr1:119259154..119260061,2	MCF-7	breast:
8	chr1:119079968..119080633-chr1:119471357..119471948,2	MCF-7	breast:

No data

Extended variants
information (count: 416 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187358453	chr1:119046023-119046024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549935083	chr1:119046032-119046033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571343705	chr1:119046048-119046049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147212536	chr1:119046080-119046081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191780037	chr1:119046084-119046085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138861078	chr1:119046206-119046207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532667607	chr1:119046227-119046228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149288665	chr1:119046229-119046230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555362236	chr1:119046251-119046252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573665640	chr1:119046258-119046259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370961349	chr1:119046319-119046320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556269149	chr1:119046331-119046332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144744422	chr1:119046348-119046349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77877056	chr1:119046398-119046399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111370362	chr1:119046439-119046440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs67616978	chr1:119046440-119046441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10666065	chr1:119046443-119046444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79154973	chr1:119046444-119046445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371621366	chr1:119046448-119046449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550857552	chr1:119046493-119046494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17038353	chr1:119046507-119046508	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572653738	chr1:119046594-119046595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543316622	chr1:119046635-119046636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181563215	chr1:119046646-119046647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548132050	chr1:119046650-119046651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539611606	chr1:119046655-119046656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185708640	chr1:119046659-119046660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549798366	chr1:119046760-119046761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566869516	chr1:119046785-119046786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80260983	chr1:119046821-119046822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374046478	chr1:119046840-119046841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114668323	chr1:119046882-119046883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558758721	chr1:119046883-119046884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547274478	chr1:119046885-119046886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115389686	chr1:119046985-119046986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570933563	chr1:119047010-119047011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71070742	chr1:119047029-119047030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35126673	chr1:119047044-119047045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548114097	chr1:119047088-119047089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190163101	chr1:119047094-119047095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537897680	chr1:119047140-119047141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10923578	chr1:119047161-119047162	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs578041088	chr1:119047228-119047229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539077355	chr1:119047275-119047276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148521694	chr1:119047281-119047282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531860429	chr1:119047283-119047284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555998581	chr1:119047286-119047287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368038715	chr1:119047325-119047326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574430062	chr1:119047363-119047364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12070850	chr1:119047376-119047377	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Wilms tumour	21544195	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
Glioblastoma multiforme	21080181	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
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
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119046000-119046200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:119046000-119047600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:119046000-119047600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:119046000-119047800	Enhancers	Fetal Lung	lung
5	chr1:119046200-119048000	Enhancers	Fetal Heart	heart
6	chr1:119046200-119049000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:119046400-119047200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:119046400-119047400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:119046400-119048200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:119046600-119047000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr1:119046600-119047200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:119046800-119047200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:119046800-119047400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr1:119046800-119047400	Enhancers	Fetal Stomach	stomach
15	chr1:119046800-119047400	Enhancers	Psoas Muscle	Psoas
16	chr1:119046800-119047800	Enhancers	Left Ventricle	heart
17	chr1:119046800-119047800	Enhancers	HSMMtube	muscle
18	chr1:119046800-119048800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:119046800-119049200	Enhancers	Fetal Muscle Leg	muscle
20	chr1:119047000-119047200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:119047000-119047200	Enhancers	Spleen	Spleen
22	chr1:119047000-119047400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr1:119047000-119047400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:119047000-119047400	Enhancers	Pancreas	Pancrea
25	chr1:119047200-119049600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:119047200-119050000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:119047400-119048600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:119047400-119048800	Weak transcription	Spleen	Spleen
29	chr1:119047400-119050000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:119047600-119048000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:119047600-119048800	Enhancers	Fetal Kidney	kidney
32	chr1:119048000-119048400	Bivalent Enhancer	Fetal Heart	heart
33	chr1:119048000-119048600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr1:119048600-119048800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:119048600-119049800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:119048800-119049000	Enhancers	Spleen	Spleen
37	chr1:119048800-119049800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:119048800-119050200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:119048800-119050400	Weak transcription	Fetal Kidney	kidney
40	chr1:119049000-119049200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:119049000-119049200	Enhancers	Psoas Muscle	Psoas
42	chr1:119049200-119049600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:119049200-119050200	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:119049600-119050200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:119049600-119050400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr1:119049800-119050200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr1:119050000-119050200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:119050000-119050400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:119050000-119050400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr1:119050000-119050400	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links