Variant report

Variant	nsv10788
Chromosome Location	chr5:180114266-180118133
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:180114639..180117305-chr5:180118582..180121501,2	MCF-7	breast:
2	chr5:180048663..180050730-chr5:180113911..180116171,2	K562	blood:
3	chr5:180113673..180116367-chr5:180119581..180121156,3	K562	blood:

Variant related genes	Relation type
ENSG00000236791	chromatin interactions

Extended variants
information (count: 169 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:169 , 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	rs535603494	chr5:180114313-180114314	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs537088470	chr5:180114323-180114324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34630223	chr5:180114324-180114325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188963982	chr5:180114357-180114358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556739195	chr5:180114389-180114390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566206633	chr5:180114390-180114391	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532733183	chr5:180114413-180114414	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192970504	chr5:180114420-180114421	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs3852149	chr5:180114438-180114439	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576772839	chr5:180114443-180114444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs17644932	chr5:180114456-180114457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs13164340	chr5:180114522-180114523	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576307360	chr5:180114540-180114541	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183735803	chr5:180114546-180114547	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs75975047	chr5:180114576-180114577	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545690981	chr5:180114583-180114584	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552778703	chr5:180114584-180114585	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs541314385	chr5:180114597-180114598	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112389598	chr5:180114633-180114634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs13165785	chr5:180114654-180114655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs572725728	chr5:180114673-180114674	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533113507	chr5:180114676-180114677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187215623	chr5:180114715-180114716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569785304	chr5:180114717-180114718	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191723546	chr5:180114800-180114801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs148180383	chr5:180114868-180114869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201403460	chr5:180114870-180114871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183957575	chr5:180114902-180114903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs377463255	chr5:180114906-180114907	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7715598	chr5:180114923-180114924	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs375028707	chr5:180114924-180114925	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs117700677	chr5:180114947-180114948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533147723	chr5:180114951-180114952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544697463	chr5:180115032-180115033	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561275535	chr5:180115035-180115036	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs141087746	chr5:180115063-180115064	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs7733204	chr5:180115082-180115083	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs188343938	chr5:180115119-180115120	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563964945	chr5:180115124-180115125	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542444838	chr5:180115199-180115200	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs192650452	chr5:180115205-180115206	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535519392	chr5:180115248-180115249	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs563093048	chr5:180115357-180115358	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs572196599	chr5:180115398-180115399	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs549529840	chr5:180115413-180115414	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs11740857	chr5:180115479-180115480	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs185699216	chr5:180115481-180115482	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577634769	chr5:180115501-180115502	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs150261541	chr5:180115519-180115520	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563325624	chr5:180115544-180115545	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180109200-180115800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr5:180109600-180115400	Enhancers	Fetal Thymus	thymus
3	chr5:180109600-180115400	Enhancers	Thymus	Thymus
4	chr5:180109600-180115600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr5:180109600-180116200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:180109800-180116000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr5:180110800-180116000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:180111000-180115400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:180111600-180115600	Enhancers	Primary T cells from cord blood	blood
10	chr5:180111800-180114600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:180112200-180119400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:180112400-180114800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:180113600-180114600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:180113600-180114600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:180113800-180115000	Enhancers	Dnd41	blood
16	chr5:180114000-180114400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:180114000-180115400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr5:180114000-180116200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr5:180114400-180115400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:180114400-180116200	Weak transcription	Pancreas	Pancrea
21	chr5:180114600-180114800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:180114600-180115600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr5:180114600-180115800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr5:180114600-180118400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:180114800-180115200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:180114800-180115600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:180115000-180117000	Flanking Active TSS	Dnd41	blood
28	chr5:180115200-180115800	Enhancers	Fetal Lung	lung
29	chr5:180115200-180116000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:180115400-180115600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:180115400-180115600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:180115400-180115600	Flanking Active TSS	Fetal Thymus	thymus
33	chr5:180115400-180115600	Active TSS	Thymus	Thymus
34	chr5:180115400-180117000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr5:180115400-180117000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:180115400-180117000	Enhancers	Primary hematopoietic stem cells	blood
37	chr5:180115400-180117200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:180115400-180117200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr5:180115600-180115800	Flanking Active TSS	Thymus	Thymus
40	chr5:180115600-180116000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:180115600-180116200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr5:180115600-180116200	Active TSS	Fetal Thymus	thymus
43	chr5:180115600-180116400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr5:180115600-180116600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr5:180115600-180116600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr5:180115600-180116800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr5:180115600-180116800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr5:180115600-180116800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr5:180115600-180117000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:180115600-180117000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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