Variant report

Variant	nsv470727
Chromosome Location	chr3:85917289-86044224
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:85979706..85982115-chr3:85984634..85986729,2	K562	blood:
2	chr3:85963263..85965350-chr3:85981290..85983775,2	MCF-7	breast:
3	chr3:85979706..85982115-chr3:85984634..85986729,2	K562	blood:
4	chr3:86010163..86013071-chr3:86015856..86017969,2	K562	blood:
5	chr3:85963263..85965350-chr3:85981290..85983775,2	MCF-7	breast:
6	chr3:86010163..86013071-chr3:86015856..86017969,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VGLL3-4	chr3:86041333-86043864	ENSG00000239519.1

No data

Extended variants
information (count: 3311 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:3311 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13087177	chr3:85931009-85931010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4091991	chr3:85931047-85931048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562435722	chr3:85931050-85931051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13087475	chr3:85931052-85931053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78536469	chr3:85931076-85931077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13087614	chr3:85931112-85931113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13087630	chr3:85931151-85931152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13087642	chr3:85931173-85931174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184491726	chr3:85931193-85931194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138414561	chr3:85931199-85931200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13087830	chr3:85931222-85931223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149242645	chr3:85931301-85931302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552498664	chr3:85931311-85931312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73147153	chr3:85931336-85931337	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550539586	chr3:85931337-85931338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189237727	chr3:85931387-85931388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535514085	chr3:85931560-85931561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554100512	chr3:85931573-85931574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566065280	chr3:85931629-85931630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539876299	chr3:85931635-85931636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147019276	chr3:85931776-85931777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558342676	chr3:85931781-85931782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554062050	chr3:85933018-85933019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116659636	chr3:85933030-85933031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184029026	chr3:85933130-85933131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557756899	chr3:85933143-85933144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188516817	chr3:85933193-85933194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73147161	chr3:85933216-85933217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs555162177	chr3:85933259-85933260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181714439	chr3:85933263-85933264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568814897	chr3:85933284-85933285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185786496	chr3:85933291-85933292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141869147	chr3:85933307-85933308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545024670	chr3:85933311-85933312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190776038	chr3:85933330-85933331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182185999	chr3:85933343-85933344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542782981	chr3:85933344-85933345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559319380	chr3:85933359-85933360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200001558	chr3:85933392-85933393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549501348	chr3:85933394-85933395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368882476	chr3:85933396-85933397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567631955	chr3:85933411-85933412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150640973	chr3:85933463-85933464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547238153	chr3:85933469-85933470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369200244	chr3:85933536-85933537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565984709	chr3:85933553-85933554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150539496	chr3:85933649-85933650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138420458	chr3:85933660-85933661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551546783	chr3:85933679-85933680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539695415	chr3:85933734-85933735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85931000-85931600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr3:85931400-85931800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:85931400-85931800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr3:85933000-85936000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:85935400-85939200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:85936000-85936600	Enhancers	Fetal Heart	heart
7	chr3:85936400-85937600	Enhancers	Fetal Kidney	kidney
8	chr3:85936800-85938000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:85937800-85938000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:85937800-85940000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:85937800-85940400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:85938000-85939400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:85938200-85939000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:85938400-85940000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:85938400-85940200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:85938400-85940600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:85938600-85939000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:85938600-85939600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:85939000-85939400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:85939000-85939600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr3:85939000-85939600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr3:85939000-85939800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr3:85939400-85940200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:85939600-85940200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:85939600-85940600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:85940000-85949000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:85940200-85942000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:85942000-85942200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:85942200-85942800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:85944200-85944600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:85946800-85952200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:85949000-85949200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:85952200-85953400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:85952400-85953400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr3:85952400-85964400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr3:85952600-85953000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:85952600-85953200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr3:85952600-85953200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:85952600-85953400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr3:85952600-85953400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr3:85952600-85953400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr3:85952800-85953000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr3:85952800-85953200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:85952800-85953200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr3:85953400-85963000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr3:85958600-85958800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:85960400-85960800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:85961000-85965000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:85961600-85961800	Active TSS	Hela-S3	cervix
50	chr3:85961600-85962000	Active TSS	A549	lung

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