Variant report

Variant	esv2422297
Chromosome Location	chr5:120274195-120330473
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	chr5:120300949..120302956-chr5:121296548..121298304,2	K562	blood:
2	chr5:120324000..120326925-chr5:120354314..120357069,2	K562	blood:

Variant related genes	Relation type
ENSG00000151304	chromatin interactions

Extended variants
information (count: 1623 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1623 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75081755	chr5:120274220-120274221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146152389	chr5:120274241-120274242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187430650	chr5:120274250-120274251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555170344	chr5:120274290-120274291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566439748	chr5:120274301-120274302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573749603	chr5:120274353-120274354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73254858	chr5:120274371-120274372	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552830558	chr5:120274391-120274392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs71586497	chr5:120274415-120274416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79102378	chr5:120274419-120274420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71586498	chr5:120274425-120274426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191722013	chr5:120274485-120274486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143572528	chr5:120274496-120274497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146825245	chr5:120274516-120274517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575561783	chr5:120274522-120274523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543061141	chr5:120274529-120274530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561247305	chr5:120274543-120274544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369246894	chr5:120274544-120274545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547250833	chr5:120274546-120274547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs55648217	chr5:120274581-120274582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565572842	chr5:120274616-120274617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140584908	chr5:120274620-120274621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551304237	chr5:120274644-120274645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183043658	chr5:120274691-120274692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188228838	chr5:120274766-120274767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549026527	chr5:120274779-120274780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73254861	chr5:120274801-120274802	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534490057	chr5:120274818-120274819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142624023	chr5:120274825-120274826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115561933	chr5:120274838-120274839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538508092	chr5:120274847-120274848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568795119	chr5:120274900-120274901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192513354	chr5:120274919-120274920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184380465	chr5:120274922-120274923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542673138	chr5:120275003-120275004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557672996	chr5:120275019-120275020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573419839	chr5:120275025-120275026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540820178	chr5:120275034-120275035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115993014	chr5:120275076-120275077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532756304	chr5:120275082-120275083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549719643	chr5:120275104-120275105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76541607	chr5:120275115-120275116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77186946	chr5:120275138-120275139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530508418	chr5:120275155-120275156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150908834	chr5:120275167-120275168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371773645	chr5:120275168-120275169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538335645	chr5:120275182-120275183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200106952	chr5:120275185-120275186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567020501	chr5:120275216-120275217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188035963	chr5:120275222-120275223	Weak transcription	n/a	n/a	Overlapped CNVs	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120269400-120274200	Weak transcription	Dnd41	blood
2	chr5:120273400-120289200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:120273600-120274600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr5:120274000-120274600	Enhancers	Liver	Liver
5	chr5:120274200-120275200	Enhancers	Dnd41	blood
6	chr5:120274600-120275600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:120275200-120277800	Weak transcription	Dnd41	blood
8	chr5:120275800-120276000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr5:120277400-120278800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:120277400-120279000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:120277400-120279000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:120277600-120278200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:120277600-120278600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr5:120277600-120278600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:120277600-120279000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:120277600-120279400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:120277600-120279400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:120277800-120278800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr5:120277800-120279000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:120277800-120280200	Enhancers	Dnd41	blood
21	chr5:120278200-120278600	Enhancers	HMEC	breast
22	chr5:120278400-120279000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr5:120278400-120279200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:120278400-120279600	Enhancers	Fetal Lung	lung
25	chr5:120278600-120279000	Enhancers	Colon Smooth Muscle	Colon
26	chr5:120279000-120286600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:120279400-120284600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:120284600-120284800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr5:120284600-120285000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr5:120284600-120285600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr5:120284600-120285600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:120285000-120285200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:120285200-120285600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr5:120289200-120289800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:120289200-120290000	ZNF genes & repeats	Dnd41	blood
36	chr5:120289600-120290000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:120293400-120293600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:120293600-120294400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:120294400-120296200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:120302000-120302800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:120302600-120302800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:120302800-120312200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:120316200-120316600	Enhancers	Fetal Brain Male	brain
44	chr5:120321000-120324600	Bivalent Enhancer	Fetal Lung	lung
45	chr5:120324000-120324200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:120324200-120324800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:120324200-120325400	Enhancers	Dnd41	blood
48	chr5:120324600-120326200	Enhancers	Fetal Lung	lung
49	chr5:120324800-120325000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:120324800-120326600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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