Variant report

Variant	esv3449040
Chromosome Location	chr4:69735363-69737311
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	chr4:69728116..69730348-chr4:69734174..69736815,2	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538451140	chr4:69735375-69735376	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11725828	chr4:69735409-69735410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs369610733	chr4:69735511-69735512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558305604	chr4:69735521-69735522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112466284	chr4:69735566-69735567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115592339	chr4:69735571-69735572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186599472	chr4:69735651-69735652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141520864	chr4:69735707-69735708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561414156	chr4:69735784-69735785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201369377	chr4:69735802-69735803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140607373	chr4:69735816-69735817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113997869	chr4:69735877-69735878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571367451	chr4:69735885-69735886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373052193	chr4:69735902-69735903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578076399	chr4:69735927-69735928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150405933	chr4:69735957-69735958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550394862	chr4:69735958-69735959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138118133	chr4:69735964-69735965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149646658	chr4:69735966-69735967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113967678	chr4:69735968-69735969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199717155	chr4:69736038-69736039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71204048	chr4:69736039-69736040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200731119	chr4:69736040-69736041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139669122	chr4:69736044-69736045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112864213	chr4:69736064-69736065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139330880	chr4:69736085-69736086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201779091	chr4:69736099-69736100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190314436	chr4:69736120-69736121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62297362	chr4:69736137-69736138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369015444	chr4:69736155-69736156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376913311	chr4:69736162-69736163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62297364	chr4:69736163-69736164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371575528	chr4:69736164-69736165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538060182	chr4:69736196-69736197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200462469	chr4:69736197-69736198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201452640	chr4:69736198-69736199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62297366	chr4:69736199-69736200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369749149	chr4:69736206-69736207	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13129698	chr4:69736208-69736209	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552819560	chr4:69736226-69736227	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560655972	chr4:69736232-69736233	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140441546	chr4:69736235-69736236	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531910152	chr4:69736241-69736242	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145214297	chr4:69736244-69736245	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529658160	chr4:69736259-69736260	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567346429	chr4:69736262-69736263	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549651841	chr4:69736273-69736274	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535879634	chr4:69736278-69736279	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187723329	chr4:69736281-69736282	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13129967	chr4:69736333-69736334	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69719800-69736600	Weak transcription	Pancreas	Pancrea
2	chr4:69730600-69736400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:69730600-69738600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:69731400-69736400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:69732400-69737000	Weak transcription	Stomach Mucosa	stomach
6	chr4:69734800-69735400	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr4:69735000-69735400	Enhancers	Gastric	stomach
8	chr4:69735200-69735800	Enhancers	HepG2	liver
9	chr4:69735200-69736200	Weak transcription	Liver	Liver
10	chr4:69735400-69736400	Weak transcription	Fetal Intestine Large	intestine
11	chr4:69735400-69736400	Weak transcription	Fetal Intestine Small	intestine
12	chr4:69735800-69736200	Weak transcription	HepG2	liver
13	chr4:69736200-69736400	Enhancers	HepG2	liver
14	chr4:69736200-69736800	Active TSS	Liver	Liver
15	chr4:69736400-69736600	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr4:69736400-69737000	Active TSS	Colonic Mucosa	Colon
17	chr4:69736400-69737000	Enhancers	Duodenum Mucosa	Duodenum
18	chr4:69736400-69737200	Active TSS	Fetal Intestine Large	intestine
19	chr4:69736400-69737200	Active TSS	Fetal Intestine Small	intestine
20	chr4:69736400-69738000	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr4:69736400-69738400	Flanking Active TSS	HepG2	liver
22	chr4:69736600-69737200	Enhancers	Pancreas	Pancrea
23	chr4:69736600-69737200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr4:69736800-69737400	Flanking Active TSS	Liver	Liver
25	chr4:69737000-69737200	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr4:69737000-69739400	Enhancers	Stomach Mucosa	stomach
27	chr4:69737200-69737400	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr4:69737200-69737800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr4:69737200-69738200	Enhancers	Duodenum Mucosa	Duodenum
30	chr4:69737200-69739200	Weak transcription	Pancreas	Pancrea
31	chr4:69737200-69741000	Enhancers	Fetal Intestine Small	intestine

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