Variant report

Variant	nsv594738
Chromosome Location	chr4:80608250-80669947
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:5)
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	chr4:80604769..80607470-chr4:80609950..80612780,2	K562	blood:
2	chr4:80648491..80650120-chr4:80667527..80670366,2	K562	blood:
3	chr4:80648491..80650120-chr4:80667527..80670366,2	K562	blood:
4	chr4:80623187..80625432-chr4:80633610..80635287,2	MCF-7	breast:
5	chr4:80623187..80625432-chr4:80633610..80635287,2	MCF-7	breast:
6	chr4:80619168..80620918-chr4:80690936..80692886,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRDM8-8	chr4:80653963-80654080	ucscGeneNc_uc003hlv_2
2	lnc-PRDM8-2	chr4:80617567-80617991	XLOC_003588
3	lnc-PRDM8-8	chr4:80633330-80633763	ucscGeneNc_uc003hlv_2
4	lnc-PRDM8-2	chr4:80611142-80611230	XLOC_003588
5	lnc-PRDM8-8	chr4:80632771-80632952	ucscGeneNc_uc003hlv_2

No data

Extended variants
information (count: 651 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:651 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539526731	chr4:80611154-80611155	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs561913717	chr4:80616803-80616804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149024497	chr4:80616850-80616851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143020730	chr4:80616861-80616862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547267663	chr4:80616862-80616863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112539494	chr4:80616868-80616869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191949336	chr4:80616873-80616874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147098808	chr4:80616914-80616915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575383735	chr4:80616923-80616924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537957831	chr4:80616941-80616942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554404384	chr4:80616984-80616985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537352670	chr4:80616993-80616994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138446191	chr4:80617061-80617062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143916288	chr4:80617065-80617066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7669949	chr4:80617145-80617146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533686762	chr4:80617147-80617148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146476263	chr4:80617149-80617150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34489113	chr4:80617181-80617182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138788820	chr4:80617190-80617191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544971747	chr4:80617203-80617204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572329923	chr4:80617209-80617210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564950604	chr4:80617222-80617223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs67909268	chr4:80617223-80617224	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557883144	chr4:80617227-80617228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184073584	chr4:80617283-80617284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs118183996	chr4:80617315-80617316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7692445	chr4:80617344-80617345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs59584376	chr4:80617395-80617396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187503089	chr4:80617582-80617583	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs553703849	chr4:80617609-80617610	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs576689608	chr4:80617633-80617634	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs545674327	chr4:80617634-80617635	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs529658044	chr4:80617665-80617666	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs575230942	chr4:80617685-80617686	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs560633682	chr4:80617732-80617733	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs190195371	chr4:80617748-80617749	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs386676490	chr4:80617791-80617792	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs10021300	chr4:80617793-80617794	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs149357925	chr4:80617817-80617818	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs559369615	chr4:80617841-80617842	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs367669025	chr4:80617914-80617915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs180935181	chr4:80617942-80617943	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs541424566	chr4:80617944-80617945	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs11724728	chr4:80617952-80617953	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs201386164	chr4:80622020-80622021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559376546	chr4:80622045-80622046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115579255	chr4:80622080-80622081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145010585	chr4:80622086-80622087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186199044	chr4:80622129-80622130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537290077	chr4:80622135-80622136	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelodysplastic syndrome	18508791	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80616800-80617400	Enhancers	Placenta	Placenta
2	chr4:80622000-80622400	Enhancers	Placenta	Placenta
3	chr4:80623400-80623600	Enhancers	Aorta	Aorta
4	chr4:80625400-80625800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr4:80635000-80635400	Enhancers	Colon Smooth Muscle	Colon
6	chr4:80636000-80636200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:80636200-80644800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:80642000-80642600	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr4:80642200-80642600	Enhancers	Rectal Smooth Muscle	rectum
10	chr4:80642200-80642600	Active TSS	Stomach Smooth Muscle	stomach
11	chr4:80644600-80644800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:80644600-80645200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:80644600-80645200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:80644600-80645400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:80644800-80645000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr4:80644800-80645000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:80644800-80645000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:80644800-80645200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr4:80644800-80645200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr4:80645000-80645200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr4:80657800-80658000	Enhancers	Placenta	Placenta
22	chr4:80658400-80661000	Weak transcription	Placenta	Placenta
23	chr4:80660600-80661400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr4:80661000-80661200	Enhancers	Placenta	Placenta
25	chr4:80661000-80661400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:80661000-80661600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:80661200-80661600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr4:80663600-80664000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:80663600-80664400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:80669000-80669200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:80669400-80671000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:80669800-80670200	Enhancers	Placenta	Placenta

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