Variant report

Variant	nsv980186
Chromosome Location	chr4:22723861-22736422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr4:22731779-22732025	GM12878	blood:	n/a	chr4:22731857-22731868
2	CTCF	chr4:22728165-22728264	GM13976	blood:	n/a	n/a
3	CTCF	chr4:22728098-22728352	Lung_OC	lung:	n/a	n/a
4	CTCF	chr4:22729053-22729172	Lung_OC	lung:	n/a	n/a
5	EBF1	chr4:22731743-22732008	GM12878	blood:	n/a	n/a
6	EBF1	chr4:22735381-22735840	GM12878	blood:	n/a	n/a
7	EP300	chr4:22735481-22735822	GM12878	blood:	n/a	n/a
8	EP300	chr4:22735618-22735724	GM12878	blood:	n/a	n/a
9	EP300	chr4:22731733-22731917	GM12878	blood:	n/a	n/a
10	EP300	chr4:22731726-22732063	GM12878	blood:	n/a	n/a
11	MAFK	chr4:22734023-22734038	K562	blood:	n/a	n/a
12	MAFK	chr4:22730878-22731041	HepG2	liver:	n/a	n/a
13	MXI1	chr4:22733263-22733412	H1-hESC	embryonic stem cell:	n/a	n/a
14	PAX5	chr4:22735596-22735745	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:22729179-22729410	GM12878	blood:	n/a	n/a
16	POLR2A	chr4:22734690-22734859	K562	blood:	n/a	n/a
17	POLR2A	chr4:22728953-22729295	GM12878	blood:	n/a	n/a
18	POLR2A	chr4:22728842-22728871	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:22727989-22728474	GM12878	blood:	n/a	n/a
20	RFX5	chr4:22731888-22732026	GM12878	blood:	n/a	n/a
21	STAT3	chr4:22727479-22727679	MCF10A-Er-Src	breast:	n/a	n/a
22	TBP	chr4:22731646-22731840	GM12878	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PACRGL-12	chr4:22731041-22731137	l_2614_chr4:22608314-22651921_testes
2	lnc-PACRGL-12	chr4:22731272-22731308	l_2614_chr4:22608314-22651921_testes
3	lnc-PACRGL-12	chr4:22731328-22732285	l_2614_chr4:22608314-22651921_testes
4	lnc-PACRGL-12	chr4:22734103-22734156	l_2614_chr4:22608314-22651921_testes
5	lnc-PACRGL-12	chr4:22733121-22733157	l_2614_chr4:22608314-22651921_testes

No data

Variant related genes	Relation type
CDC42P6	TF binding region

Extended variants
information (count: 500 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184530925	chr4:22723861-22723862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75132021	chr4:22723895-22723896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188115985	chr4:22723896-22723897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572215989	chr4:22723897-22723898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10026609	chr4:22723903-22723904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560302842	chr4:22723907-22723908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200785787	chr4:22723933-22723934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371281767	chr4:22723934-22723935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528641913	chr4:22723936-22723937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146035318	chr4:22723948-22723949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374515865	chr4:22724072-22724073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115833963	chr4:22724078-22724079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139990996	chr4:22724087-22724088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79898692	chr4:22724223-22724224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149740070	chr4:22724232-22724233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34725128	chr4:22724393-22724394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371965666	chr4:22724396-22724397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201241798	chr4:22724400-22724401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61793656	chr4:22724413-22724414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs548892319	chr4:22724472-22724473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533988455	chr4:22724649-22724650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10030119	chr4:22724659-22724660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs145735210	chr4:22724745-22724746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370572509	chr4:22724763-22724764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556520562	chr4:22724920-22724921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574450582	chr4:22724924-22724925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73113403	chr4:22724928-22724929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs559763384	chr4:22724976-22724977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553780495	chr4:22724980-22724981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573278280	chr4:22725002-22725003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369858437	chr4:22725044-22725045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10030375	chr4:22725105-22725106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540812564	chr4:22725130-22725131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61793657	chr4:22725147-22725148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs73801174	chr4:22725148-22725149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544469661	chr4:22725219-22725220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185356202	chr4:22725270-22725271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375369085	chr4:22725321-22725322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9997684	chr4:22725328-22725329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs190566537	chr4:22725425-22725426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548848934	chr4:22725455-22725456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2875116	chr4:22725474-22725475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs112695025	chr4:22725495-22725496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571116770	chr4:22725515-22725516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181504830	chr4:22725517-22725518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552329895	chr4:22725587-22725588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148506225	chr4:22725596-22725597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201952219	chr4:22725602-22725603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35969864	chr4:22725651-22725652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142871258	chr4:22725665-22725666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Wilms tumour	21544195	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

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22699200-22737600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:22702600-22752600	Weak transcription	Fetal Intestine Small	intestine
3	chr4:22717600-22736200	Weak transcription	Liver	Liver
4	chr4:22717800-22753800	Weak transcription	Fetal Intestine Large	intestine
5	chr4:22731000-22731200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr4:22731400-22737000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:22733000-22733400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:22733200-22733800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:22733400-22733800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:22736200-22741600	Strong transcription	Liver	Liver

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