Variant report

Variant	esv3429063
Chromosome Location	chr5:113714478-113716651
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	chr5:113716230..113718820-chr5:113722226..113724682,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371862761	chr5:113714494-113714495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186834507	chr5:113714621-113714622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564719955	chr5:113714623-113714624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369975372	chr5:113714659-113714660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114252719	chr5:113714749-113714750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548989037	chr5:113714763-113714764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568544496	chr5:113714767-113714768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148050070	chr5:113714771-113714772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs337696	chr5:113714775-113714776	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs140885408	chr5:113714792-113714793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191674722	chr5:113714829-113714830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6867115	chr5:113714837-113714838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550454065	chr5:113714849-113714850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541105616	chr5:113714895-113714896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559595023	chr5:113714916-113714917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574671467	chr5:113714918-113714919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542027740	chr5:113714923-113714924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78887245	chr5:113714993-113714994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181707774	chr5:113714996-113714997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186412413	chr5:113715058-113715059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62381469	chr5:113715129-113715130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs35163292	chr5:113715148-113715149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528088257	chr5:113715153-113715154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546309644	chr5:113715155-113715156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191222052	chr5:113715180-113715181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62381470	chr5:113715209-113715210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76793659	chr5:113715232-113715233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62381471	chr5:113715240-113715241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28449910	chr5:113715271-113715272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536564683	chr5:113715275-113715276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555872718	chr5:113715302-113715303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569920209	chr5:113715307-113715308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs163208	chr5:113715334-113715335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537360347	chr5:113715353-113715354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544971004	chr5:113715355-113715356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56003614	chr5:113715356-113715357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56169267	chr5:113715363-113715364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56260733	chr5:113715395-113715396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs36137318	chr5:113715427-113715428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs575809491	chr5:113715459-113715460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577313137	chr5:113715478-113715479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543779106	chr5:113715507-113715508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs401689	chr5:113715529-113715530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28729910	chr5:113715579-113715580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs192017539	chr5:113715594-113715595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142829123	chr5:113715644-113715645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114649351	chr5:113715661-113715662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563424593	chr5:113715667-113715668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575502183	chr5:113715679-113715680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184470963	chr5:113715706-113715707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Autism	22495309	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113699800-113714800	Weak transcription	Left Ventricle	heart
2	chr5:113702800-113716000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:113713000-113714600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:113713000-113715000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr5:113713200-113730800	Weak transcription	Brain Anterior Caudate	brain
6	chr5:113713600-113714600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:113713800-113714800	Weak transcription	Pancreas	Pancrea
8	chr5:113714000-113714600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:113714000-113714600	Enhancers	Gastric	stomach
10	chr5:113714000-113714800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:113714000-113714800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:113714200-113714800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:113714200-113715000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:113714200-113715000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:113714200-113715000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:113714200-113715000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:113714400-113715000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr5:113714400-113715000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:113714400-113715000	Enhancers	Liver	Liver
20	chr5:113714600-113714800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:113714600-113715000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:113714600-113716200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:113714600-113718200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:113714800-113715000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:113714800-113715000	Enhancers	Left Ventricle	heart
26	chr5:113714800-113715000	Enhancers	Pancreas	Pancrea
27	chr5:113714800-113715800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr5:113714800-113720800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:113715000-113715200	Weak transcription	Pancreas	Pancrea
30	chr5:113715000-113716000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:113715000-113716200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:113715000-113722400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:113715000-113722600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:113715000-113722800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:113715000-113723800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:113715000-113727800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:113715800-113716200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:113716000-113716200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:113716000-113716600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:113716200-113716800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:113716200-113718000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:113716200-113718000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:113716600-113722000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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