Variant report

Variant	esv275090
Chromosome Location	chr3:139529885-139536481
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	chr3:139526947..139528640-chr3:139532025..139533584,2	K562	blood:

Extended variants
information (count: 190 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:190 , 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	rs6439883	chr3:139529885-139529886	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs139469398	chr3:139529904-139529905	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs529919895	chr3:139529914-139529915	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs115121610	chr3:139529915-139529916	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs183412520	chr3:139529916-139529917	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs186770491	chr3:139529929-139529930	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs116723651	chr3:139529998-139529999	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs192791084	chr3:139529999-139530000	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs371182164	chr3:139530001-139530002	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs374112160	chr3:139530019-139530020	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs375851008	chr3:139530042-139530043	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs565721967	chr3:139530092-139530093	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs534361474	chr3:139530121-139530122	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs552203253	chr3:139530130-139530131	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs554534296	chr3:139530141-139530142	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs116578699	chr3:139530202-139530203	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs536968972	chr3:139530228-139530229	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs546153502	chr3:139530233-139530234	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs556863318	chr3:139530235-139530236	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs189951385	chr3:139530261-139530262	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs370154543	chr3:139530301-139530302	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs545574689	chr3:139530309-139530310	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs192746172	chr3:139530342-139530343	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs572489709	chr3:139530395-139530396	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs184216135	chr3:139530459-139530460	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs561312251	chr3:139530524-139530525	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs530006342	chr3:139530539-139530540	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs80088387	chr3:139530550-139530551	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs549679401	chr3:139530577-139530578	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs188974926	chr3:139530588-139530589	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs532178704	chr3:139530625-139530626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552346348	chr3:139530699-139530700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149870216	chr3:139530703-139530704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534694844	chr3:139530725-139530726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144880480	chr3:139530736-139530737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568065745	chr3:139530744-139530745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201934778	chr3:139530852-139530853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537007108	chr3:139530863-139530864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6789124	chr3:139530894-139530895	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs576808647	chr3:139530928-139530929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539273245	chr3:139530964-139530965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181730694	chr3:139531001-139531002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184870615	chr3:139531062-139531063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149016356	chr3:139531087-139531088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561189834	chr3:139531097-139531098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574500857	chr3:139531122-139531123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371499689	chr3:139531133-139531134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543364733	chr3:139531158-139531159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563289676	chr3:139531179-139531180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189137233	chr3:139531192-139531193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139527600-139533000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:139529200-139532800	Enhancers	Fetal Intestine Large	intestine
3	chr3:139529600-139530800	Enhancers	HSMM	muscle
4	chr3:139529600-139534400	Weak transcription	Right Atrium	heart
5	chr3:139529800-139530600	Weak transcription	Lung	lung
6	chr3:139529800-139530600	Flanking Active TSS	HSMMtube	muscle
7	chr3:139529800-139531600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:139530200-139530800	Enhancers	NH-A	brain
9	chr3:139530200-139531000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:139530200-139531800	Enhancers	Fetal Intestine Small	intestine
11	chr3:139530400-139530800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:139530400-139530800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:139530400-139531400	Enhancers	Ovary	ovary
14	chr3:139530600-139530800	Enhancers	Lung	lung
15	chr3:139530600-139531000	Enhancers	Duodenum Mucosa	Duodenum
16	chr3:139530600-139531000	Enhancers	HSMMtube	muscle
17	chr3:139531400-139532200	Weak transcription	Ovary	ovary
18	chr3:139531600-139533000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:139531800-139533200	Weak transcription	Fetal Intestine Small	intestine
20	chr3:139532200-139532400	Enhancers	Ovary	ovary
21	chr3:139532800-139533400	Weak transcription	Fetal Intestine Large	intestine
22	chr3:139533000-139533200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:139533000-139533600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:139533000-139533600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:139533000-139533600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:139533200-139533600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr3:139533200-139533600	Enhancers	Fetal Intestine Small	intestine
28	chr3:139533400-139533600	Enhancers	Fetal Intestine Large	intestine
29	chr3:139535400-139535600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:139535600-139535800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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