Variant report

Variant	esv1835693
Chromosome Location	chr3:140909441-140910504
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	chr3:140867484..140869090-chr3:140909634..140911456,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9859870	chr3:140909441-140909442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574821727	chr3:140909444-140909445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185976668	chr3:140909448-140909449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10433433	chr3:140909493-140909494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs10433434	chr3:140909532-140909533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546390784	chr3:140909547-140909548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73234896	chr3:140909554-140909555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369834835	chr3:140909575-140909576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550692463	chr3:140909623-140909624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144439942	chr3:140909630-140909631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9990158	chr3:140909653-140909654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs529597549	chr3:140909676-140909677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140335126	chr3:140909693-140909694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566398391	chr3:140909712-140909713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9289622	chr3:140909781-140909782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113859827	chr3:140909807-140909808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9289623	chr3:140909831-140909832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537948479	chr3:140909869-140909870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556572259	chr3:140909972-140909973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574843336	chr3:140910004-140910005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535811193	chr3:140910012-140910013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554230040	chr3:140910056-140910057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9864596	chr3:140910066-140910067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs142683680	chr3:140910088-140910089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115944318	chr3:140910089-140910090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564512681	chr3:140910094-140910095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202070949	chr3:140910138-140910139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534818988	chr3:140910178-140910179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201196885	chr3:140910187-140910188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149303285	chr3:140910188-140910189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576625017	chr3:140910202-140910203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367840642	chr3:140910226-140910227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372027507	chr3:140910227-140910228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112961605	chr3:140910231-140910232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373744434	chr3:140910232-140910233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199675484	chr3:140910235-140910236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60345942	chr3:140910260-140910261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562563748	chr3:140910335-140910336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529755240	chr3:140910337-140910338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs16851121	chr3:140910355-140910356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs56966360	chr3:140910389-140910390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs554640886	chr3:140910397-140910398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527566792	chr3:140910502-140910503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs16851123	chr3:140910504-140910505	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:50)

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
T-cell prolymphocytic leukemia	17713554	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
Schizophrenia	17989066	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140905800-140911400	Weak transcription	Thymus	Thymus
2	chr3:140910400-140911000	Enhancers	Osteobl	bone
3	chr3:140910400-140911200	Enhancers	HMEC	breast
4	chr3:140910400-140911600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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