Variant report

Variant	esv3408045
Chromosome Location	chr3:142359112-142361260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142361260..142362902-chr3:142365127..142366866,2	MCF-7	breast:
2	chr3:142360347..142363924-chr3:142363947..142367785,4	K562	blood:
3	chr3:142358804..142361847-chr3:142364115..142367127,3	K562	blood:
4	chr3:142360507..142362272-chr3:142381303..142382879,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546842919	chr3:142359128-142359129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559912814	chr3:142359165-142359166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571831931	chr3:142359173-142359174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539087200	chr3:142359260-142359261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372634094	chr3:142359261-142359262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527511042	chr3:142359272-142359273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575848454	chr3:142359308-142359309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189598113	chr3:142359398-142359399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555032145	chr3:142359406-142359407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115686594	chr3:142359412-142359413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13079246	chr3:142359427-142359428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559256728	chr3:142359438-142359439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111906347	chr3:142359496-142359497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531703768	chr3:142359518-142359519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148462824	chr3:142359521-142359522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4683688	chr3:142359538-142359539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs180789317	chr3:142359539-142359540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4683426	chr3:142359553-142359554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116396550	chr3:142359563-142359564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528735083	chr3:142359621-142359622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115678250	chr3:142359632-142359633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117048868	chr3:142359661-142359662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554332351	chr3:142359699-142359700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74441671	chr3:142359730-142359731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185980481	chr3:142359747-142359748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189652603	chr3:142359766-142359767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181136627	chr3:142359785-142359786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369196749	chr3:142359812-142359813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554625126	chr3:142359891-142359892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566860040	chr3:142359910-142359911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534584086	chr3:142359918-142359919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4683689	chr3:142359959-142359960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs544202131	chr3:142359999-142360000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138316946	chr3:142360000-142360001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368306980	chr3:142360001-142360002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200527473	chr3:142360017-142360018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113228350	chr3:142360018-142360019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577890930	chr3:142360087-142360088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528671742	chr3:142360092-142360093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571824384	chr3:142360122-142360123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558399524	chr3:142360133-142360134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185889333	chr3:142360275-142360276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150904717	chr3:142360357-142360358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9832606	chr3:142360373-142360374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs190451625	chr3:142360395-142360396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151000776	chr3:142360433-142360434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369645323	chr3:142360459-142360460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139625930	chr3:142360493-142360494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114037891	chr3:142360537-142360538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183395003	chr3:142360563-142360564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142343400-142366400	Weak transcription	Fetal Intestine Small	intestine
2	chr3:142348800-142364800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:142355400-142363600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr3:142355400-142364000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr3:142357000-142371400	Weak transcription	Aorta	Aorta
6	chr3:142357600-142365200	Weak transcription	Colonic Mucosa	Colon
7	chr3:142358600-142361600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:142358600-142365600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr3:142360400-142360600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:142360400-142360800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:142360600-142361600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:142360800-142371400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:142361200-142362400	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links