Variant report

Variant	nsv879595
Chromosome Location	chr4:92883522-92940711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56736322..56736880-chr4:92908655..92909344,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202077	chromatin interactions

Extended variants
information (count: 540 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17018975	chr4:92883522-92883523	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557930740	chr4:92883534-92883535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552959721	chr4:92883538-92883539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566427931	chr4:92883553-92883554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572947120	chr4:92883563-92883564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541810384	chr4:92883568-92883569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561881225	chr4:92883585-92883586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139592805	chr4:92883595-92883596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141719252	chr4:92883689-92883690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146101597	chr4:92883763-92883764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532444171	chr4:92883764-92883765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552451267	chr4:92883779-92883780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191110681	chr4:92883830-92883831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181483689	chr4:92883855-92883856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1489557	chr4:92883857-92883858	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs186122423	chr4:92883866-92883867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116547497	chr4:92883928-92883929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190981858	chr4:92883937-92883938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140086576	chr4:92883976-92883977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183259676	chr4:92884013-92884014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570917216	chr4:92884033-92884034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534275121	chr4:92884074-92884075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143669126	chr4:92884099-92884100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145712031	chr4:92884102-92884103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566807475	chr4:92884111-92884112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535484072	chr4:92884137-92884138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188135263	chr4:92884177-92884178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575705457	chr4:92884247-92884248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190969381	chr4:92884260-92884261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544337129	chr4:92884300-92884301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142996898	chr4:92884326-92884327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527687015	chr4:92884356-92884357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555922102	chr4:92884368-92884369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368847731	chr4:92884383-92884384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs151115890	chr4:92884406-92884407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142566315	chr4:92884409-92884410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547902113	chr4:92884438-92884439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75068958	chr4:92884446-92884447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541868518	chr4:92884451-92884452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377707390	chr4:92884476-92884477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146792185	chr4:92884507-92884508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs5860259	chr4:92884557-92884558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561493185	chr4:92884564-92884565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35986014	chr4:92884568-92884569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs5860260	chr4:92884578-92884579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200200504	chr4:92884579-92884580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530640693	chr4:92884588-92884589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182290491	chr4:92884630-92884631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570516934	chr4:92884644-92884645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116004797	chr4:92884721-92884722	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	19907438	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92879600-92884800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:92880200-92884600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:92880400-92884200	Weak transcription	Fetal Brain Male	brain
4	chr4:92883000-92883800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:92883200-92884200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr4:92883600-92884600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:92884200-92884600	Enhancers	Fetal Brain Male	brain
8	chr4:92884200-92884600	Enhancers	NH-A	brain
9	chr4:92884200-92884800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:92884200-92885000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:92884600-92885000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:92884600-92885000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:92884800-92886400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:92886400-92886800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:92900000-92900200	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
16	chr4:92911000-92912000	Enhancers	Stomach Mucosa	stomach
17	chr4:92923000-92923600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:92931600-92931800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:92931800-92932400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:92932400-92934000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:92934000-92934600	Enhancers	Stomach Mucosa	stomach
22	chr4:92934000-92935000	Enhancers	Fetal Lung	lung
23	chr4:92934000-92935200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:92934200-92934400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
25	chr4:92934200-92934400	Active TSS	Duodenum Mucosa	Duodenum
26	chr4:92934400-92934600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:92934400-92934600	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr4:92934400-92934600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr4:92934400-92934600	Enhancers	Gastric	stomach
30	chr4:92934400-92934600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr4:92934400-92934800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr4:92934400-92934800	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr4:92934400-92934800	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr4:92934400-92934800	Enhancers	Small Intestine	intestine
35	chr4:92934400-92935000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr4:92934400-92935000	Enhancers	HepG2	liver
37	chr4:92934400-92935200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:92934400-92935200	Enhancers	Liver	Liver
39	chr4:92934400-92935400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr4:92934600-92934800	Enhancers	Duodenum Mucosa	Duodenum
41	chr4:92934600-92934800	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr4:92934600-92935600	Weak transcription	Stomach Mucosa	stomach
43	chr4:92934800-92935200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr4:92934800-92935200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:92934800-92935200	Enhancers	Fetal Intestine Small	intestine
46	chr4:92934800-92935200	Weak transcription	Small Intestine	intestine
47	chr4:92934800-92935600	Enhancers	Fetal Intestine Large	intestine
48	chr4:92934800-92936800	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr4:92935000-92936000	Weak transcription	Fetal Lung	lung
50	chr4:92935200-92935600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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