Variant report

Variant	esv3326642
Chromosome Location	chr5:75636096-75647694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:75641071..75642753-chr5:75644361..75646338,2	K562	blood:
2	chr5:75633439..75636286-chr5:75698439..75700729,3	K562	blood:
3	chr5:75629494..75631233-chr5:75639125..75641980,2	K562	blood:
4	chr5:75641071..75642753-chr5:75644361..75646338,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IQGAP2-2	chr5:75637759-75638013	NONHSAT102236
2	lnc-IQGAP2-2	chr5:75638161-75638599	NONHSAT102236

No data

Variant related genes	Relation type
ENSG00000145703	chromatin interactions

Extended variants
information (count: 427 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374170980	chr5:75636169-75636170	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs189270909	chr5:75636181-75636182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573448810	chr5:75636242-75636243	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs62363166	chr5:75636252-75636253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4704306	chr5:75636264-75636265	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs180892864	chr5:75636290-75636291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543105652	chr5:75636303-75636304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562990884	chr5:75636318-75636319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2937737	chr5:75636338-75636339	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549296677	chr5:75636343-75636344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565852848	chr5:75636398-75636399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62363167	chr5:75636399-75636400	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551294246	chr5:75636406-75636407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2937736	chr5:75636408-75636409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537586658	chr5:75636427-75636428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185430769	chr5:75636461-75636462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569646890	chr5:75636499-75636500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2937735	chr5:75636617-75636618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs78719628	chr5:75636623-75636624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553302490	chr5:75636658-75636659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202056098	chr5:75636746-75636747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369993636	chr5:75636749-75636750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56102200	chr5:75636750-75636751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397933765	chr5:75636770-75636771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188724890	chr5:75636778-75636779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145124865	chr5:75636795-75636796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2937734	chr5:75636838-75636839	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2937733	chr5:75636886-75636887	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543141873	chr5:75636921-75636922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563031050	chr5:75636935-75636936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2937732	chr5:75636939-75636940	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12516036	chr5:75636944-75636945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559256492	chr5:75636945-75636946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140320813	chr5:75636962-75636963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551648500	chr5:75637004-75637005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113274486	chr5:75637020-75637021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2937731	chr5:75637045-75637046	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138852894	chr5:75637095-75637096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550760402	chr5:75637137-75637138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181490734	chr5:75637157-75637158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536701977	chr5:75637171-75637172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149548232	chr5:75637210-75637211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77992299	chr5:75637212-75637213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374563172	chr5:75637218-75637219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141984234	chr5:75637237-75637238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs168680	chr5:75637281-75637282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566849395	chr5:75637284-75637285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150398716	chr5:75637297-75637298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558803115	chr5:75637299-75637300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575468248	chr5:75637395-75637396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
Hepatocellular carcinoma	16750200	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75629600-75637800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:75629800-75638000	Weak transcription	HepG2	liver
3	chr5:75634000-75637200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:75634200-75637000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:75634200-75637200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:75634200-75637200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:75634200-75637200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:75634200-75637400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr5:75634200-75637600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:75634200-75637600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:75634200-75637600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:75634200-75637600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:75634200-75637600	Weak transcription	Fetal Stomach	stomach
14	chr5:75634200-75637800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:75634200-75637800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:75634200-75637800	Weak transcription	Primary B cells from cord blood	blood
17	chr5:75634200-75637800	Weak transcription	Pancreas	Pancrea
18	chr5:75634200-75638000	Weak transcription	Fetal Thymus	thymus
19	chr5:75634400-75636200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:75634400-75637000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:75634400-75637200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:75634400-75637200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:75634400-75637200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:75634400-75637200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:75634400-75637400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:75634400-75637400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:75634400-75637400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:75634400-75637400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:75634400-75637400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:75634400-75637600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:75634400-75637600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:75634400-75637600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr5:75634400-75637600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr5:75634400-75637800	Weak transcription	Primary T cells from cord blood	blood
35	chr5:75634400-75637800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr5:75634400-75637800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr5:75634400-75637800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:75634400-75637800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr5:75634400-75637800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:75634400-75637800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr5:75634400-75638000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr5:75634400-75638000	Weak transcription	Esophagus	oesophagus
43	chr5:75634600-75637200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr5:75634600-75637400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:75634600-75637600	Weak transcription	Stomach Mucosa	stomach
46	chr5:75634800-75637600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr5:75635800-75636200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:75636200-75636400	Enhancers	Primary hematopoietic stem cells	blood
49	chr5:75636200-75637600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:75636400-75636800	Weak transcription	Primary hematopoietic stem cells	blood

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