Variant report

Variant	nsv824013
Chromosome Location	chr7:12909669-12915411
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr7:12910558-12910563	A549	lung:	n/a	n/a
2	CTCF	chr7:12913917-12913989	Kidney_OC	kidney:	n/a	n/a
3	EP300	chr7:12909801-12909805	GM12878	blood:	n/a	n/a
4	FOXA1	chr7:12914216-12914569	T-47D	breast:	n/a	n/a
5	FOXA1	chr7:12914375-12914719	HepG2	liver:	n/a	n/a
6	FOXA2	chr7:12914344-12914543	HepG2	liver:	n/a	n/a
7	MAFF	chr7:12913217-12913468	HepG2	liver:	n/a	chr7:12913335-12913353
8	MAFK	chr7:12913161-12913485	HepG2	liver:	n/a	chr7:12913462-12913477 chr7:12913341-12913352 chr7:12913341-12913352 chr7:12913340-12913351
9	MAX	chr7:12914427-12914432	NB4	blood:	n/a	n/a
10	MYC	chr7:12909792-12909832	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYC	chr7:12911913-12911976	MCF-7	breast:	n/a	n/a
12	POLR2A	chr7:12909728-12909890	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr7:12911855-12911878	Gliobla	brain:	n/a	n/a
14	POLR2A	chr7:12914009-12914074	Gliobla	brain:	n/a	n/a
15	POLR2A	chr7:12911881-12911997	Gliobla	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12906060..12908256-chr7:12910264..12912774,2	K562	blood:
2	chr7:12911820..12914851-chr7:12918750..12922159,3	K562	blood:
3	chr7:12907484..12910263-chr7:12913109..12915374,2	K562	blood:
4	chr7:12912617..12914205-chr7:12916335..12918399,2	K562	blood:
5	chr7:12725533..12727177-chr7:12912708..12914666,2	K562	blood:
6	chr7:12907484..12910263-chr7:12913109..12915374,2	K562	blood:
7	chr7:12764840..12767194-chr7:12908807..12911307,2	K562	blood:
8	chr7:12898438..12903845-chr7:12907285..12911161,5	K562	blood:
9	chr7:12907138..12909951-chr7:12999390..13002085,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VWDE-4	chr7:12912991-12913136	NONHSAT119241
2	lnc-VWDE-4	chr7:12912992-12913136	XLOC_006357

No data

Variant related genes	Relation type
RN7SKP228	TF binding region
ENSG00000122644	chromatin interactions
ERRFI1	miRNA target sites

Extended variants
information (count: 157 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568361580	chr7:12911685-12911686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145478044	chr7:12911686-12911687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536225448	chr7:12911758-12911759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573193680	chr7:12911777-12911778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191750445	chr7:12911799-12911800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141201745	chr7:12911838-12911839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368320891	chr7:12911859-12911860	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs371130410	chr7:12911867-12911868	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs77438206	chr7:12911885-12911886	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs550553552	chr7:12911906-12911907	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs564912286	chr7:12911927-12911928	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs145148333	chr7:12911941-12911942	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs183212153	chr7:12911944-12911945	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs544801231	chr7:12911946-12911947	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs561392848	chr7:12911950-12911951	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs34488685	chr7:12911992-12911993	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs78410145	chr7:12912010-12912011	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs147604319	chr7:12912065-12912066	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs187124247	chr7:12912071-12912072	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs758676	chr7:12912107-12912108	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs375815441	chr7:12912112-12912113	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs368090209	chr7:12912149-12912150	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs142171937	chr7:12912158-12912159	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs531372819	chr7:12912171-12912172	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs539769047	chr7:12912191-12912192	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs548387726	chr7:12912194-12912195	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs553598737	chr7:12912199-12912200	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs6948576	chr7:12912234-12912235	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs36072813	chr7:12912235-12912236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534129892	chr7:12912240-12912241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12538792	chr7:12912295-12912296	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs566919937	chr7:12912307-12912308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539039711	chr7:12912360-12912361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559054095	chr7:12912367-12912368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75705401	chr7:12912378-12912379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62448183	chr7:12912387-12912388	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554414735	chr7:12912423-12912424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12539313	chr7:12912425-12912426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555176859	chr7:12912455-12912456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575020439	chr7:12912529-12912530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191459095	chr7:12912537-12912538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560416568	chr7:12912634-12912635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112443792	chr7:12912653-12912654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552861438	chr7:12912719-12912720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545409640	chr7:12912720-12912721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs569334730	chr7:12912744-12912745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538470377	chr7:12912745-12912746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs550398109	chr7:12912753-12912754	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148271162	chr7:12912775-12912776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113495592	chr7:12912782-12912783	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12911600-12912200	Enhancers	HSMM	muscle
2	chr7:12911800-12912000	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr7:12912000-12912200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
4	chr7:12912000-12912400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr7:12912200-12912400	Enhancers	HSMMtube	muscle
6	chr7:12912400-12912800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:12912800-12913400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr7:12913000-12913200	Enhancers	HSMMtube	muscle

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