Variant report

Variant	nsv590386
Chromosome Location	chr3:59846067-59912377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:234742959..234745944-chr3:59898788..59900288,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD6-8	chr3:59846693-59846897	NONHSAT090156
2	lnc-KCTD6-8	chr3:59846047-59846080	NONHSAT090156

Variant related genes	Relation type
ENSG00000168264	chromatin interactions

Extended variants
information (count: 3252 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:3252 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12487204	chr3:59846067-59846068	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551106594	chr3:59846071-59846072	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs184424541	chr3:59846073-59846074	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs541262442	chr3:59846076-59846077	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs559924869	chr3:59846080-59846081	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs113053716	chr3:59846084-59846085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543875794	chr3:59846097-59846098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571794425	chr3:59846114-59846115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368519943	chr3:59846138-59846139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188737440	chr3:59846146-59846147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563862433	chr3:59846149-59846150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113670880	chr3:59846150-59846151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138063970	chr3:59846166-59846167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs678981	chr3:59846186-59846187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs112788875	chr3:59846193-59846194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547250509	chr3:59846243-59846244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537752621	chr3:59846253-59846254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78362727	chr3:59846288-59846289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7629400	chr3:59846291-59846292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs17363144	chr3:59846339-59846340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181111930	chr3:59846341-59846342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555778081	chr3:59846393-59846394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574229676	chr3:59846408-59846409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114946113	chr3:59846435-59846436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539133317	chr3:59846441-59846442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553408110	chr3:59846460-59846461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112736770	chr3:59846483-59846484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369370644	chr3:59846491-59846492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144029945	chr3:59846496-59846497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7432036	chr3:59846519-59846520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80031066	chr3:59846520-59846521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565921271	chr3:59846529-59846530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575775738	chr3:59846575-59846576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543045180	chr3:59846595-59846596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563285281	chr3:59846596-59846597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185319653	chr3:59846598-59846599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7432041	chr3:59846599-59846600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529157432	chr3:59846607-59846608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs681119	chr3:59846614-59846615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559704760	chr3:59846654-59846655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533112439	chr3:59846688-59846689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78677504	chr3:59846717-59846718	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs548598412	chr3:59846746-59846747	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs148650639	chr3:59846751-59846752	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs677703	chr3:59846752-59846753	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs567618174	chr3:59846767-59846768	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs75255037	chr3:59846803-59846804	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs571618516	chr3:59846811-59846812	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs79447795	chr3:59846815-59846816	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs546700303	chr3:59846862-59846863	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Cancer	20164919	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59834000-59848000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr3:59843600-59853200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:59843600-59853200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr3:59843600-59854200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr3:59843800-59846800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr3:59843800-59848000	Weak transcription	Dnd41	blood
7	chr3:59843800-59852800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr3:59844000-59848400	Weak transcription	Primary T cells from cord blood	blood
9	chr3:59844400-59848800	Weak transcription	Fetal Thymus	thymus
10	chr3:59846600-59847000	Enhancers	Pancreas	Pancrea
11	chr3:59846800-59847000	Enhancers	Stomach Mucosa	stomach
12	chr3:59846800-59847800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr3:59847800-59848200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr3:59848000-59849000	Enhancers	Osteobl	bone
15	chr3:59848000-59850400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr3:59848000-59852400	Strong transcription	Dnd41	blood
17	chr3:59848200-59849000	Enhancers	NH-A	brain
18	chr3:59848200-59849200	Enhancers	K562	blood
19	chr3:59848200-59851600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr3:59848400-59849000	Enhancers	HMEC	breast
21	chr3:59848400-59849000	Enhancers	NHEK	skin
22	chr3:59848400-59850000	ZNF genes & repeats	Primary T cells from cord blood	blood
23	chr3:59848800-59849000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:59848800-59850000	Strong transcription	Fetal Thymus	thymus
25	chr3:59849000-59851800	Weak transcription	HMEC	breast
26	chr3:59849400-59849600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr3:59849800-59850400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:59850000-59852400	Strong transcription	Primary T cells from cord blood	blood
29	chr3:59850000-59864000	Weak transcription	Fetal Thymus	thymus
30	chr3:59850400-59851600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:59850400-59853400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr3:59851000-59851400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:59851000-59851600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:59851000-59851600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr3:59851400-59851600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:59851400-59851800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr3:59851400-59852000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:59851400-59852400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:59851400-59852600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:59851600-59852000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:59851600-59852200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr3:59851600-59852600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:59851600-59853400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:59851600-59857800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:59851800-59852200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr3:59851800-59852200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:59851800-59852400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr3:59851800-59852600	Enhancers	HMEC	breast
49	chr3:59852200-59852400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr3:59852200-59855200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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