Variant report

Variant	nsv525183
Chromosome Location	chr5:180081766-180094042
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:180083705..180084315-chr6:10033064..10033612,2	MCF-7	breast:
2	chr5:180094037..180096535-chr5:180099976..180102790,2	K562	blood:
3	chr5:180076787..180079357-chr5:180092252..180095157,2	K562	blood:
4	chr5:180091768..180093922-chr5:180095583..180097208,2	K562	blood:
5	chr5:180092442..180094516-chr5:180097000..180098654,2	K562	blood:

Extended variants
information (count: 375 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372137452	chr5:180085605-180085606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113675834	chr5:180085618-180085619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149414228	chr5:180085621-180085622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372646960	chr5:180085629-180085630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113223352	chr5:180085636-180085637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376409470	chr5:180085637-180085638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369935850	chr5:180085645-180085646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200897302	chr5:180085653-180085654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201490362	chr5:180085658-180085659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377366783	chr5:180085661-180085662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566488153	chr5:180085662-180085663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199892579	chr5:180085669-180085670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200970404	chr5:180085693-180085694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201820941	chr5:180085698-180085699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377603473	chr5:180085701-180085702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370258424	chr5:180085709-180085710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374973766	chr5:180085722-180085723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368468004	chr5:180085725-180085726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372860988	chr5:180085733-180085734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538639730	chr5:180085741-180085742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374178884	chr5:180085743-180085744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368489091	chr5:180085749-180085750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113258998	chr5:180085759-180085760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372138774	chr5:180085765-180085766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201070502	chr5:180085770-180085771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376099397	chr5:180085773-180085774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113950347	chr5:180085778-180085779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369337359	chr5:180085781-180085782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs202154870	chr5:180085786-180085787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112015421	chr5:180085789-180085790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73349225	chr5:180085817-180085818	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs369741585	chr5:180085839-180085840	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs569314711	chr5:180085843-180085844	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs200944537	chr5:180085854-180085855	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs71577415	chr5:180085862-180085863	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs11746155	chr5:180085863-180085864	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190304555	chr5:180085874-180085875	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs66807875	chr5:180085875-180085876	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs554493733	chr5:180085924-180085925	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs182572959	chr5:180085951-180085952	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs544997003	chr5:180085975-180085976	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs564863475	chr5:180085997-180085998	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs530594051	chr5:180085998-180085999	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs144783176	chr5:180085999-180086000	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs561091167	chr5:180086027-180086028	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs529948314	chr5:180086050-180086051	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs373253496	chr5:180086068-180086069	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs546531375	chr5:180086069-180086070	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs574105592	chr5:180086098-180086099	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs139880636	chr5:180086160-180086161	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180085600-180085800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:180085800-180086000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:180085800-180086000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:180085800-180086000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
5	chr5:180085800-180086000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:180085800-180086000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:180085800-180086000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:180085800-180086000	Bivalent Enhancer	Brain Germinal Matrix	brain
9	chr5:180085800-180086000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
10	chr5:180085800-180086000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
11	chr5:180085800-180086000	Bivalent Enhancer	Fetal Brain Male	brain
12	chr5:180085800-180086000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
13	chr5:180085800-180086000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
14	chr5:180085800-180086200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr5:180085800-180086200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr5:180085800-180086200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr5:180085800-180086200	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr5:180085800-180086200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:180085800-180086200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:180085800-180086200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
21	chr5:180085800-180086200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
22	chr5:180085800-180086200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:180085800-180086200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
24	chr5:180085800-180086200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
25	chr5:180085800-180086200	Bivalent Enhancer	Spleen	Spleen
26	chr5:180085800-180086600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr5:180085800-180086600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr5:180085800-180086600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:180085800-180086600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr5:180085800-180086600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr5:180085800-180086600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr5:180085800-180086600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr5:180086000-180086200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:180086000-180086200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
35	chr5:180086000-180086200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr5:180086000-180086400	Bivalent/Poised TSS	HSMM	muscle
37	chr5:180086200-180086600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:180086200-180086600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:180086200-180086800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr5:180086200-180100400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:180086400-180086600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr5:180086400-180086600	Bivalent Enhancer	Fetal Thymus	thymus
43	chr5:180086600-180086800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:180086600-180086800	Bivalent Enhancer	Brain Hippocampus Middle	brain
45	chr5:180086600-180091800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:180091000-180091800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:180091800-180092000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:180091800-180092000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:180092000-180095800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:180092000-180097200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links