Variant report

Variant	nsv432584
Chromosome Location	chr4:22009677-22080362
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:22022641..22025613-chr4:22031377..22033219,2	K562	blood:
2	chr4:22028111..22029824-chr4:22035660..22037244,2	MCF-7	breast:
3	chr4:22045762..22048489-chr4:22082694..22085288,2	MCF-7	breast:
4	chr4:22028111..22029824-chr4:22035660..22037244,2	MCF-7	breast:
5	chr4:22022641..22025613-chr4:22031377..22033219,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PACRGL-5	chr4:22060696-22060983	ENSG00000250039.2
2	lnc-PACRGL-5	chr4:22060707-22060983	ENSG00000250039.3

No data

Extended variants
information (count: 1034 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1034 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190892974	chr4:22015419-22015420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78020422	chr4:22015420-22015421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572285251	chr4:22015427-22015428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182067036	chr4:22015428-22015429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575872110	chr4:22015474-22015475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550355496	chr4:22015522-22015523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542987799	chr4:22015538-22015539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536425041	chr4:22015540-22015541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188020089	chr4:22015550-22015551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73102666	chr4:22015618-22015619	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs576220851	chr4:22015627-22015628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192694874	chr4:22015714-22015715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564599917	chr4:22015720-22015721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112674056	chr4:22015785-22015786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73102668	chr4:22015795-22015796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188313893	chr4:22015832-22015833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369726526	chr4:22015864-22015865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193040990	chr4:22015904-22015905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150691735	chr4:22015915-22015916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371072364	chr4:22015938-22015939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114757410	chr4:22015979-22015980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533926552	chr4:22016012-22016013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139134812	chr4:22016038-22016039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184621664	chr4:22016102-22016103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538786423	chr4:22016135-22016136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557308763	chr4:22016140-22016141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1513574	chr4:22016141-22016142	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs143979631	chr4:22016201-22016202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13144713	chr4:22016223-22016224	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs146462291	chr4:22016243-22016244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540419495	chr4:22016278-22016279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13117670	chr4:22016295-22016296	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576504277	chr4:22016302-22016303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546020954	chr4:22016319-22016320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373971614	chr4:22016326-22016327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544008904	chr4:22016337-22016338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562616486	chr4:22016340-22016341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529628165	chr4:22016372-22016373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548169672	chr4:22016376-22016377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189282858	chr4:22016382-22016383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34151417	chr4:22016414-22016415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192553452	chr4:22016423-22016424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183753526	chr4:22016459-22016460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs68147450	chr4:22016461-22016462	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548864986	chr4:22016494-22016495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545490656	chr4:22016508-22016509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189652167	chr4:22016510-22016511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532777667	chr4:22022618-22022619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184110734	chr4:22022641-22022642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561172158	chr4:22022660-22022661	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22015400-22016600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:22015600-22016600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:22015800-22016600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:22022600-22023400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:22025200-22025600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:22028600-22028800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr4:22028800-22029000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
8	chr4:22031000-22032000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:22031000-22032200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:22031200-22032400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:22031600-22031800	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr4:22031600-22032000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:22031600-22032200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:22031800-22032000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr4:22031800-22032200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:22045200-22046000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:22046200-22047400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:22059800-22066400	Weak transcription	Pancreas	Pancrea
19	chr4:22060800-22062200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:22062200-22063200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:22063200-22066400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:22066400-22066600	ZNF genes & repeats	Pancreas	Pancrea
23	chr4:22066400-22073200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:22073200-22073800	Enhancers	NHEK	skin
25	chr4:22073200-22074200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:22073200-22074400	Enhancers	HMEC	breast
27	chr4:22073400-22074200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:22073400-22074400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:22074400-22077800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:22077800-22078400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:22078400-22078800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:22078800-22079400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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