Variant report

Variant	esv274870
Chromosome Location	chr4:173702738-173704829
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	chr4:173702658..173704418-chr4:173706596..173708903,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567546033	chr4:173702813-173702814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536607473	chr4:173702862-173702863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542040969	chr4:173702966-173702967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556599810	chr4:173703002-173703003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555574222	chr4:173703127-173703128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576575822	chr4:173703177-173703178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539150053	chr4:173703229-173703230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35192219	chr4:173703236-173703237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557651820	chr4:173703239-173703240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182860627	chr4:173703247-173703248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141279054	chr4:173703294-173703295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560355073	chr4:173703325-173703326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573856149	chr4:173703330-173703331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542189805	chr4:173703331-173703332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562162052	chr4:173703370-173703371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531292404	chr4:173703378-173703379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551090691	chr4:173703400-173703401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145045562	chr4:173703412-173703413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11725400	chr4:173703416-173703417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs547680617	chr4:173703438-173703439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187152746	chr4:173703458-173703459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75925352	chr4:173703469-173703470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151281411	chr4:173703510-173703511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140549581	chr4:173703625-173703626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546042698	chr4:173703652-173703653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562660364	chr4:173703684-173703685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531662983	chr4:173703716-173703717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570098155	chr4:173703727-173703728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539111755	chr4:173703753-173703754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191584885	chr4:173703759-173703760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559055365	chr4:173703821-173703822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76876129	chr4:173703859-173703860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577752372	chr4:173703891-173703892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533942252	chr4:173703895-173703896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553705932	chr4:173703933-173703934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182270123	chr4:173703946-173703947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187738013	chr4:173703981-173703982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150467016	chr4:173703982-173703983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527380302	chr4:173704010-173704011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575681163	chr4:173704046-173704047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193107744	chr4:173704068-173704069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12645440	chr4:173704071-173704072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs527395805	chr4:173704081-173704082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138301319	chr4:173704112-173704113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185487380	chr4:173704113-173704114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537021195	chr4:173704117-173704118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570387518	chr4:173704138-173704139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530400052	chr4:173704164-173704165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190363422	chr4:173704166-173704167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555650423	chr4:173704169-173704170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173697200-173707000	Weak transcription	Fetal Kidney	kidney
2	chr4:173698800-173707000	Weak transcription	Hela-S3	cervix
3	chr4:173699400-173702800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr4:173701000-173707200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:173702400-173702800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr4:173702400-173706800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr4:173702800-173705600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr4:173702800-173706000	Weak transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links