Variant report

Variant	nsv432422
Chromosome Location	chr3:60535731-60543215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:60500352..60502884-chr3:60536251..60537952,2	K562	blood:
2	chr3:60532780..60534867-chr3:60539940..60541452,2	K562	blood:
3	chr3:60540686..60542357-chr3:60544396..60547360,2	MCF-7	breast:

Extended variants
information (count: 437 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:437 , 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	rs11130772	chr3:60535731-60535732	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77937638	chr3:60535737-60535738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533971314	chr3:60535745-60535746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181034024	chr3:60535793-60535794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80265595	chr3:60535797-60535798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369028087	chr3:60535804-60535805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185047107	chr3:60535870-60535871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555193213	chr3:60535872-60535873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574926943	chr3:60535890-60535891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371511232	chr3:60535914-60535915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575372454	chr3:60535915-60535916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542887351	chr3:60535928-60535929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189510969	chr3:60535953-60535954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572868977	chr3:60535957-60535958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181730693	chr3:60535982-60535983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs241682	chr3:60536000-60536001	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs146079694	chr3:60536022-60536023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140079565	chr3:60536023-60536024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200226075	chr3:60536063-60536064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199691529	chr3:60536070-60536071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563074022	chr3:60536076-60536077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185914608	chr3:60536077-60536078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191707319	chr3:60536107-60536108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544707779	chr3:60536121-60536122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527635019	chr3:60536125-60536126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566869506	chr3:60536141-60536142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9850904	chr3:60536156-60536157	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs116537591	chr3:60536226-60536227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570528709	chr3:60536264-60536265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548133036	chr3:60536278-60536279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573076321	chr3:60536306-60536307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145238830	chr3:60536313-60536314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559908643	chr3:60536332-60536333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556411613	chr3:60536336-60536337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575381529	chr3:60536339-60536340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76329386	chr3:60536345-60536346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs398062364	chr3:60536357-60536358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377405980	chr3:60536358-60536359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536100267	chr3:60536394-60536395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554848641	chr3:60536411-60536412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2006807	chr3:60536420-60536421	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs540546050	chr3:60536431-60536432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183102530	chr3:60536445-60536446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75883174	chr3:60536460-60536461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76070394	chr3:60536465-60536466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377616346	chr3:60536473-60536474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552023050	chr3:60536477-60536478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74651939	chr3:60536494-60536495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186694598	chr3:60536527-60536528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs107342	chr3:60536552-60536553	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60531200-60536200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:60533000-60536200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:60533400-60536000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:60533600-60536800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:60533800-60541200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:60533800-60541200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:60533800-60541400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:60534000-60541000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr3:60534200-60540600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:60534400-60535800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr3:60534400-60541000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:60535200-60537800	Weak transcription	Brain Substantia Nigra	brain
13	chr3:60535400-60536000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:60535400-60536200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:60536000-60536400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:60536000-60540200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:60536200-60540600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:60536400-60536600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:60536600-60537000	Enhancers	Aorta	Aorta
20	chr3:60536600-60540600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:60536800-60540600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:60537000-60537200	Active TSS	HSMM	muscle
23	chr3:60537200-60537400	Flanking Active TSS	HSMM	muscle
24	chr3:60537400-60538000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr3:60537600-60538400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:60537600-60538800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:60537800-60538200	Enhancers	Brain Substantia Nigra	brain
28	chr3:60537800-60538800	Enhancers	Brain Anterior Caudate	brain
29	chr3:60538000-60538800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr3:60538200-60538800	Enhancers	K562	blood
31	chr3:60538400-60538800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:60538600-60538800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr3:60538800-60540400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:60538800-60541000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr3:60538800-60541200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:60538800-60541200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:60540200-60543400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr3:60540400-60542600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr3:60540400-60543000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr3:60540600-60541000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr3:60540600-60541200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:60540600-60542600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr3:60540600-60543000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr3:60540600-60543200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr3:60540800-60542400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr3:60540800-60542600	Enhancers	HMEC	breast
47	chr3:60541000-60541400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr3:60541000-60541600	Enhancers	Primary B cells from cord blood	blood
49	chr3:60541000-60542000	Enhancers	Primary hematopoietic stem cells	blood
50	chr3:60541000-60542000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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