Variant report

Variant	esv3326084
Chromosome Location	chr3:139461662-139465960
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	chr3:139463769..139465328-chr3:139564978..139566656,2	K562	blood:

Extended variants
information (count: 161 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369861306	chr3:139461808-139461809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560007491	chr3:139461817-139461818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565651956	chr3:139461854-139461855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62270219	chr3:139461889-139461890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188994407	chr3:139461935-139461936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549590809	chr3:139461949-139461950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9858199	chr3:139461956-139461957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531112121	chr3:139461960-139461961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9877895	chr3:139461964-139461965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564569906	chr3:139461969-139461970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569305752	chr3:139462066-139462067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533368835	chr3:139462098-139462099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77543745	chr3:139462111-139462112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566774132	chr3:139462201-139462202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377336091	chr3:139462209-139462210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535357919	chr3:139462224-139462225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150266667	chr3:139462264-139462265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181939138	chr3:139462316-139462317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370269516	chr3:139462328-139462329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374093917	chr3:139462361-139462362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536178055	chr3:139462368-139462369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139748683	chr3:139462407-139462408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72366836	chr3:139462408-139462409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71304263	chr3:139462409-139462410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57593525	chr3:139462410-139462411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542749354	chr3:139462413-139462414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4683687	chr3:139462423-139462424	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs77291342	chr3:139462437-139462438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75359807	chr3:139462460-139462461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554170118	chr3:139462476-139462477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187386514	chr3:139462498-139462499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138912545	chr3:139462591-139462592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189147300	chr3:139462645-139462646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144960720	chr3:139462657-139462658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573562217	chr3:139462665-139462666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116644782	chr3:139462670-139462671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563674294	chr3:139462689-139462690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200721733	chr3:139462691-139462692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181053490	chr3:139462697-139462698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371321485	chr3:139462714-139462715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544770448	chr3:139462731-139462732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185640427	chr3:139462732-139462733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564580537	chr3:139462783-139462784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114012535	chr3:139462850-139462851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73869767	chr3:139462888-139462889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs142140304	chr3:139462894-139462895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76178694	chr3:139462902-139462903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146333980	chr3:139462952-139462953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190352618	chr3:139462972-139462973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138284766	chr3:139462985-139462986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Cancer	21129771	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
Multiple myeloma	17550852	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
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139461200-139464600	Weak transcription	Fetal Heart	heart
2	chr3:139462400-139462600	Enhancers	Fetal Lung	lung
3	chr3:139462600-139463600	Weak transcription	Fetal Lung	lung
4	chr3:139463600-139463800	Enhancers	Fetal Lung	lung
5	chr3:139463600-139465800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:139463800-139464000	Flanking Active TSS	Fetal Lung	lung
7	chr3:139464000-139465000	Enhancers	Fetal Lung	lung
8	chr3:139464200-139464800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr3:139464200-139464800	Enhancers	NHLF	lung
10	chr3:139464200-139465000	Enhancers	Ovary	ovary
11	chr3:139464200-139465200	Enhancers	NH-A	brain
12	chr3:139464200-139466000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:139464400-139465000	Enhancers	HepG2	liver
14	chr3:139464600-139464800	Enhancers	HMEC	breast
15	chr3:139464600-139465000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:139464600-139465000	Enhancers	Fetal Heart	heart
17	chr3:139464600-139465200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:139464600-139465200	Enhancers	NHDF-Ad	bronchial
19	chr3:139464600-139465400	Enhancers	HSMMtube	muscle
20	chr3:139464600-139465600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:139464600-139466000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr3:139464600-139466000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:139464600-139466000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:139464800-139465200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:139464800-139466200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:139464800-139466200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:139465200-139465800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr3:139465200-139466000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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