Variant report

Variant	nsv967774
Chromosome Location	chr4:100025816-100033849
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	chr4:100009811..100011847-chr4:100024562..100026344,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197894	chromatin interactions
ENSG00000246090	chromatin interactions

Extended variants
information (count: 362 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185455193	chr4:100025823-100025824	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs554308529	chr4:100025855-100025856	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs575751483	chr4:100025862-100025863	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2851274	chr4:100025866-100025867	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs142940810	chr4:100025868-100025869	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs369036931	chr4:100025869-100025870	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs576811425	chr4:100025880-100025881	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs58811889	chr4:100025888-100025889	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs2602847	chr4:100025963-100025964	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs569127392	chr4:100025984-100025985	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs560025494	chr4:100025989-100025990	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs530314773	chr4:100026012-100026013	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs542460566	chr4:100026022-100026023	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs561050206	chr4:100026031-100026032	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs537851545	chr4:100026039-100026040	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs563845567	chr4:100026042-100026043	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs540224858	chr4:100026043-100026044	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs565170861	chr4:100026057-100026058	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs533235432	chr4:100026081-100026082	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs1840228	chr4:100026098-100026099	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs1840229	chr4:100026109-100026110	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs182814848	chr4:100026153-100026154	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs549056049	chr4:100026164-100026165	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs145861813	chr4:100026230-100026231	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs142593205	chr4:100026244-100026245	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs72677574	chr4:100026273-100026274	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs186358022	chr4:100026283-100026284	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs536112232	chr4:100026293-100026294	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs571174925	chr4:100026299-100026300	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs1840230	chr4:100026332-100026333	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs557378843	chr4:100026367-100026368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192151143	chr4:100026378-100026379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138602466	chr4:100026395-100026396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182620778	chr4:100026401-100026402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115678309	chr4:100026405-100026406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141137208	chr4:100026409-100026410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565256816	chr4:100026443-100026444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1901922	chr4:100026483-100026484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs139946695	chr4:100026484-100026485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563441735	chr4:100026508-100026509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530864879	chr4:100026555-100026556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549180862	chr4:100026584-100026585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72897134	chr4:100026617-100026618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs528163597	chr4:100026627-100026628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375381358	chr4:100026640-100026641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2851272	chr4:100026671-100026672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs571181447	chr4:100026740-100026741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187697769	chr4:100026741-100026742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550597383	chr4:100026745-100026746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71588997	chr4:100026769-100026770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100012800-100063800	Weak transcription	Aorta	Aorta
2	chr4:100020600-100034800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:100020800-100032800	Weak transcription	Fetal Intestine Small	intestine
4	chr4:100020800-100038600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:100021000-100032200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:100021000-100041200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:100023000-100055600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:100025800-100038400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:100026200-100026400	Enhancers	Lung	lung
10	chr4:100028600-100029200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr4:100028800-100029400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:100029000-100029200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:100029000-100029400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:100029800-100030600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr4:100031200-100031800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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