Variant report

Variant	nsv915646
Chromosome Location	chr3:60088475-60240653
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:60234763..60239313-chr3:60259101..60264028,5	K562	blood:
2	chr3:60120417..60123350-chr3:60125419..60128034,2	K562	blood:
3	chr3:60227860..60230033-chr3:60233057..60236236,5	K562	blood:
4	chr3:60201561..60203293-chr3:60258409..60260445,2	K562	blood:
5	chr3:60183906..60185619-chr3:60186648..60189161,2	K562	blood:
6	chr3:60222812..60224764-chr3:60226709..60229125,2	K562	blood:
7	chr3:60233213..60236039-chr3:60237445..60240033,2	K562	blood:
8	chr3:60233213..60236039-chr3:60237445..60240033,2	K562	blood:
9	chr3:60120417..60123350-chr3:60125419..60128034,2	K562	blood:
10	chr3:60216976..60218581-chr3:60221614..60223794,2	K562	blood:
11	chr3:60092867..60094612-chr3:60094796..60097247,2	K562	blood:
12	chr3:60216976..60218581-chr3:60221614..60223794,2	K562	blood:
13	chr3:60183906..60185619-chr3:60186648..60189161,2	K562	blood:
14	chr3:60200174..60203052-chr3:60295659..60297420,2	K562	blood:
15	chr3:60227860..60230033-chr3:60233057..60236236,5	K562	blood:
16	chr3:60169452..60171383-chr3:60172881..60175585,3	K562	blood:
17	chr3:59988215..59988997-chr3:60152321..60153153,2	MCF-7	breast:
18	chr3:60101310..60104205-chr3:60104357..60107292,2	K562	blood:
19	chr3:60165952..60167759-chr3:60170117..60173099,2	K562	blood:
20	chr3:60169452..60171383-chr3:60172881..60175585,3	K562	blood:
21	chr3:60222812..60224764-chr3:60226709..60229125,2	K562	blood:
22	chr3:60232635..60234409-chr3:60265559..60267834,2	K562	blood:
23	chr3:60101310..60104205-chr3:60104357..60107292,2	K562	blood:
24	chr3:60187999..60188742-chr3:60417102..60417817,2	MCF-7	breast:
25	chr3:60165952..60167759-chr3:60170117..60173099,2	K562	blood:
26	chr3:60092867..60094612-chr3:60094796..60097247,2	K562	blood:
27	chr3:60238823..60240958-chr3:60247675..60249888,2	K562	blood:

No data

Extended variants
information (count: 6879 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:6879 , 50 per page) page: 1 2 3 4 5 6 7 ... 138

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs969562	chr3:60088482-60088483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531055776	chr3:60088529-60088530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542802917	chr3:60088534-60088535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376523366	chr3:60088571-60088572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561662719	chr3:60088578-60088579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370091522	chr3:60088583-60088584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528959059	chr3:60088625-60088626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547145774	chr3:60088631-60088632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565683050	chr3:60088663-60088664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554102844	chr3:60088670-60088671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115833133	chr3:60088681-60088682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143310072	chr3:60088700-60088701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11926900	chr3:60088713-60088714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569958362	chr3:60088725-60088726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377399211	chr3:60088732-60088733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555581496	chr3:60088751-60088752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567321515	chr3:60088752-60088753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535135204	chr3:60088774-60088775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553152317	chr3:60088800-60088801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577972343	chr3:60088803-60088804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77217412	chr3:60088812-60088813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560795828	chr3:60088828-60088829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572372651	chr3:60088847-60088848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371234689	chr3:60088860-60088861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370356544	chr3:60088863-60088864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557271069	chr3:60088875-60088876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575514867	chr3:60088877-60088878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182012281	chr3:60088884-60088885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561551089	chr3:60088917-60088918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377496479	chr3:60088923-60088924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151277222	chr3:60088930-60088931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111570393	chr3:60088940-60088941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559183580	chr3:60088965-60088966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186233452	chr3:60088969-60088970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140475339	chr3:60089022-60089023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563604035	chr3:60089067-60089068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190507815	chr3:60089096-60089097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548973733	chr3:60089134-60089135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567464235	chr3:60089135-60089136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534471721	chr3:60089143-60089144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558321444	chr3:60089175-60089176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116813761	chr3:60089184-60089185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571397895	chr3:60089191-60089192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538680367	chr3:60089235-60089236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556913415	chr3:60089239-60089240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575205049	chr3:60089262-60089263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9871368	chr3:60089286-60089287	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs554921104	chr3:60089306-60089307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10510825	chr3:60089314-60089315	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs540463822	chr3:60089325-60089326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Cancer	18162546	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Glioblastoma multiforme	21569311	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60081400-60089600	Weak transcription	Stomach Mucosa	stomach
2	chr3:60082400-60088800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr3:60086200-60089600	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr3:60086200-60091000	Enhancers	Fetal Intestine Large	intestine
5	chr3:60086200-60091600	Enhancers	Fetal Intestine Small	intestine
6	chr3:60087000-60090200	Enhancers	Fetal Heart	heart
7	chr3:60087800-60089000	Weak transcription	Fetal Lung	lung
8	chr3:60088000-60088800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr3:60088800-60089000	Enhancers	Duodenum Mucosa	Duodenum
10	chr3:60088800-60089600	Enhancers	Fetal Thymus	thymus
11	chr3:60088800-60090800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr3:60088800-60091200	Enhancers	Dnd41	blood
13	chr3:60088800-60091400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:60089000-60089800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:60089000-60089800	Enhancers	Primary hematopoietic stem cells	blood
16	chr3:60089000-60090000	Enhancers	Fetal Lung	lung
17	chr3:60089200-60089400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:60089400-60090400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:60089400-60091000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:60089600-60089800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:60089600-60090400	Weak transcription	Fetal Thymus	thymus
22	chr3:60089600-60090800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr3:60089600-60091200	Enhancers	Primary T cells from cord blood	blood
24	chr3:60089600-60091800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr3:60089600-60092000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr3:60089800-60090200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr3:60089800-60090600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr3:60089800-60091400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:60089800-60091400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr3:60089800-60091400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:60090000-60091200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr3:60090000-60091400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:60090200-60090800	Enhancers	Primary hematopoietic stem cells	blood
34	chr3:60090400-60090600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:60090400-60090600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:60090400-60090800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr3:60090400-60091000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr3:60090400-60091000	Enhancers	Fetal Thymus	thymus
39	chr3:60090400-60091200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:60090400-60091200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr3:60090600-60091200	Enhancers	Brain Substantia Nigra	brain
42	chr3:60090800-60091000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr3:60090800-60091000	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr3:60090800-60091200	Enhancers	Brain Cingulate Gyrus	brain
45	chr3:60090800-60091200	Enhancers	Brain Hippocampus Middle	brain
46	chr3:60090800-60091400	Enhancers	Brain Angular Gyrus	brain
47	chr3:60091000-60091400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr3:60091000-60091800	Weak transcription	Fetal Intestine Large	intestine
49	chr3:60091200-60091600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr3:60091200-60095400	Weak transcription	Primary T cells from cord blood	blood

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