Variant report

Variant	esv2763889
Chromosome Location	chr5:120186998-120247295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:120211985..120214324-chr5:120217571..120220442,2	K562	blood:
2	chr5:120193977..120195872-chr5:120199617..120202112,2	K562	blood:
3	chr5:120211985..120214324-chr5:120217571..120220442,2	K562	blood:
4	chr5:120182804..120185937-chr5:120188813..120191326,3	K562	blood:
5	chr5:120193977..120195872-chr5:120199617..120202112,2	K562	blood:

Extended variants
information (count: 1200 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1200 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10056627	chr5:120187033-120187034	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530396677	chr5:120187044-120187045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548571276	chr5:120187052-120187053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567170312	chr5:120187060-120187061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143555058	chr5:120187064-120187065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546192886	chr5:120187164-120187165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533753235	chr5:120187173-120187174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571006790	chr5:120187190-120187191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533488332	chr5:120187211-120187212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189803057	chr5:120187216-120187217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182050024	chr5:120187289-120187290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575378793	chr5:120187301-120187302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186287397	chr5:120187313-120187314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146794943	chr5:120187341-120187342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190305712	chr5:120187348-120187349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191935033	chr5:120187363-120187364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183844826	chr5:120187376-120187377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140595400	chr5:120187402-120187403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143730960	chr5:120187408-120187409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544406112	chr5:120187422-120187423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563019290	chr5:120187441-120187442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530200298	chr5:120187448-120187449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60221676	chr5:120187462-120187463	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs148033248	chr5:120187485-120187486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527709903	chr5:120187488-120187489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140804930	chr5:120187500-120187501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188279820	chr5:120187581-120187582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538326659	chr5:120187608-120187609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192975157	chr5:120187618-120187619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150142648	chr5:120187621-120187622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35644640	chr5:120187622-120187623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554793480	chr5:120187623-120187624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75056878	chr5:120187659-120187660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10065049	chr5:120187678-120187679	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182725349	chr5:120187703-120187704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577279878	chr5:120187704-120187705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62381126	chr5:120187719-120187720	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs113265002	chr5:120187723-120187724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59805375	chr5:120187724-120187725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562802005	chr5:120187733-120187734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138893363	chr5:120187742-120187743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142917108	chr5:120187764-120187765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191473295	chr5:120187766-120187767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560355443	chr5:120187771-120187772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527966491	chr5:120187826-120187827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546119056	chr5:120187867-120187868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564464103	chr5:120187952-120187953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531969832	chr5:120188015-120188016	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs550552351	chr5:120188019-120188020	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs73263354	chr5:120188023-120188024	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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
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
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	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120184600-120188200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:120184800-120187000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:120184800-120187200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:120186600-120187800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:120186600-120188800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:120186600-120189400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:120186800-120187400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr5:120186800-120188000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:120186800-120188200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:120186800-120188800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:120186800-120189000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:120186800-120189400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:120187000-120187200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:120187000-120188800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr5:120187000-120188800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr5:120187200-120188000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:120187200-120189200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:120187400-120187800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:120187600-120188400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:120187800-120188400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:120187800-120188800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr5:120188000-120188400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr5:120188000-120188800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:120188200-120188400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:120188200-120189000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr5:120188400-120188600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:120188400-120189000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:120188800-120190000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:120189000-120189400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:120189000-120190400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:120189000-120190400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:120189400-120190400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:120189400-120190600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:120189400-120190800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:120190000-120190200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr5:120190200-120190800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:120190400-120190600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:120190400-120191000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr5:120190600-120191000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:120190800-120191000	Enhancers	H9 Cell Line	embryonic stem cell
41	chr5:120190800-120191000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr5:120190800-120191000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr5:120191000-120192400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr5:120192400-120192600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr5:120192400-120192800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:120192400-120193000	Enhancers	Fetal Lung	lung
47	chr5:120193000-120199800	Weak transcription	Fetal Lung	lung
48	chr5:120194000-120196000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:120199800-120200200	Enhancers	Fetal Lung	lung
50	chr5:120200000-120203000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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