Variant report

Variant	nsv1022673
Chromosome Location	chr7:11294891-11310923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:114)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:114 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:11295980-11296164	K562	blood:	n/a	n/a
2	BACH1	chr7:11296612-11296698	K562	blood:	n/a	n/a
3	BHLHE40	chr7:11297291-11297301	K562	blood:	n/a	n/a
4	BHLHE40	chr7:11305072-11305074	K562	blood:	n/a	n/a
5	CEBPB	chr7:11300941-11301574	MCF-7	breast:	n/a	n/a
6	CEBPB	chr7:11302619-11302868	A549	lung:	n/a	chr7:11302772-11302785
7	CEBPB	chr7:11294783-11295348	MCF-7	breast:	n/a	n/a
8	CEBPB	chr7:11301110-11301336	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr7:11301044-11301564	MCF-7	breast:	n/a	n/a
10	CTCF	chr7:11301260-11301410	MCF-7	breast:	n/a	n/a
11	CTCF	chr7:11301080-11301230	BE2_C	brain:	n/a	n/a
12	CTCF	chr7:11301240-11301390	BE2_C	brain:	n/a	n/a
13	CTCF	chr7:11301080-11301230	HEK293	kidney:	n/a	n/a
14	ELK1	chr7:11305006-11305007	K562	blood:	n/a	n/a
15	EP300	chr7:11300996-11301672	MCF-7	breast:	n/a	n/a
16	EP300	chr7:11300938-11301511	T-47D	breast:	n/a	chr7:11300982-11300996
17	EP300	chr7:11300904-11301564	MCF-7	breast:	n/a	chr7:11300982-11300996
18	EP300	chr7:11301105-11301509	T-47D	breast:	n/a	n/a
19	EP300	chr7:11301140-11301318	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr7:11301374-11301474	K562	blood:	n/a	n/a
21	EP300	chr7:11304843-11305046	K562	blood:	n/a	n/a
22	ESR1	chr7:11300963-11301512	T-47D	breast:	n/a	n/a
23	ESR1	chr7:11301024-11301465	ECC-1	luminal epithelium:	n/a	n/a
24	ESR1	chr7:11300942-11301489	T-47D	breast:	n/a	n/a
25	ESR1	chr7:11301084-11301383	ECC-1	luminal epithelium:	n/a	n/a
26	ESR1	chr7:11301034-11301359	ECC-1	luminal epithelium:	n/a	n/a
27	ESR1	chr7:11301007-11301413	T-47D	breast:	n/a	n/a
28	ESR1	chr7:11301061-11301432	ECC-1	luminal epithelium:	n/a	n/a
29	ESR1	chr7:11300955-11301502	T-47D	breast:	n/a	n/a
30	ESR1	chr7:11300963-11301474	T-47D	breast:	n/a	n/a
31	ESR1	chr7:11300978-11301489	T-47D	breast:	n/a	n/a
32	FOS	chr7:11301283-11301472	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr7:11301133-11301542	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr7:11301130-11301503	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr7:11301096-11301593	MCF10A-Er-Src	breast:	n/a	n/a
36	FOSL2	chr7:11301060-11301734	MCF-7	breast:	n/a	n/a
37	FOSL2	chr7:11301106-11301652	MCF-7	breast:	n/a	n/a
38	FOXA1	chr7:11300941-11301490	T-47D	breast:	n/a	chr7:11301108-11301120
39	FOXA1	chr7:11301091-11301475	T-47D	breast:	n/a	chr7:11301108-11301120
40	FOXA2	chr7:11301143-11301495	A549	lung:	n/a	n/a
41	FOXM1	chr7:11294592-11295561	MCF-7	breast:	n/a	n/a
42	FOXM1	chr7:11300934-11301647	MCF-7	breast:	n/a	n/a
43	FOXM1	chr7:11300814-11301803	MCF-7	breast:	n/a	n/a
44	GABPA	chr7:11301086-11301538	MCF-7	breast:	n/a	n/a
45	GATA2	chr7:11309933-11310392	SH-SY5Y	brain:	n/a	n/a
46	GATA3	chr7:11301008-11301490	T-47D	breast:	n/a	n/a
47	GATA3	chr7:11309892-11310265	T-47D	breast:	n/a	n/a
48	GATA3	chr7:11294779-11295372	MCF-7	breast:	n/a	chr7:11295174-11295182 chr7:11295173-11295182
49	GATA3	chr7:11294832-11295379	MCF-7	breast:	n/a	chr7:11295174-11295182 chr7:11295173-11295182
50	GATA3	chr7:11306700-11306827	SH-SY5Y	brain:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:11305179..11307568-chr7:11307740..11310059,2	K562	blood:
2	chr7:11292499..11294774-chr7:11295300..11298788,3	K562	blood:
3	chr7:11305179..11307568-chr7:11307740..11310059,2	K562	blood:
4	chr7:11300390..11302568-chr7:11306434..11309079,2	K562	blood:
5	chr7:11277040..11279683-chr7:11299557..11301437,2	MCF-7	breast:
6	chr7:11292499..11294774-chr7:11295925..11298788,3	K562	blood:
7	chr7:11300668..11301550-chr7:11377175..11377834,2	MCF-7	breast:
8	chr7:11300390..11302568-chr7:11306434..11309079,2	K562	blood:
9	chr6:27880639..27883461-chr7:11306851..11309270,2	MCF-7	breast:
10	chr7:11283625..11286458-chr7:11299427..11301201,2	MCF-7	breast:
11	chr7:11310747..11312959-chr7:11363468..11365814,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF14-1	chr7:11293826-11295704	NONHSAT119212
2	lnc-THSD7A-2	chr7:11297308-11298162	NONHSAT119215

No data

Variant related genes	Relation type
NPM1P11	TF binding region
ENSG00000230333	chromatin interactions

Extended variants
information (count: 766 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:766 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10486116	chr7:11294891-11294892	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186301335	chr7:11294913-11294914	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs371960114	chr7:11294922-11294923	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs554629665	chr7:11295010-11295011	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs550581776	chr7:11295032-11295033	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs191210140	chr7:11295059-11295060	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs558390027	chr7:11295095-11295096	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs7812248	chr7:11295119-11295120	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545311940	chr7:11295133-11295134	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs570644548	chr7:11295139-11295140	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs371105697	chr7:11295145-11295146	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs575289233	chr7:11295150-11295151	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs80324836	chr7:11295204-11295205	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs547063450	chr7:11295211-11295212	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs139230691	chr7:11295259-11295260	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs529800498	chr7:11295276-11295277	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs546838776	chr7:11295314-11295315	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs560728943	chr7:11295318-11295319	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs532643453	chr7:11295351-11295352	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs561405627	chr7:11295365-11295366	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs180726457	chr7:11295385-11295386	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs372381169	chr7:11295410-11295411	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs144041003	chr7:11295418-11295419	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs566877174	chr7:11295434-11295435	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs548196761	chr7:11295494-11295495	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs10950344	chr7:11295501-11295502	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs139787728	chr7:11295558-11295559	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs4720953	chr7:11295561-11295562	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs113511755	chr7:11295563-11295564	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs115602694	chr7:11295575-11295576	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs150067064	chr7:11295616-11295617	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs575725467	chr7:11295634-11295635	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs186039282	chr7:11295677-11295678	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs4720954	chr7:11295709-11295710	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs116203392	chr7:11295718-11295719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574392417	chr7:11295770-11295771	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540321931	chr7:11295796-11295797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560020620	chr7:11295805-11295806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532553045	chr7:11295814-11295815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs149214083	chr7:11295820-11295821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574420785	chr7:11295843-11295844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189959002	chr7:11295856-11295857	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs540571285	chr7:11296008-11296009	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs531884300	chr7:11296018-11296019	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs183314045	chr7:11296034-11296035	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543409451	chr7:11296043-11296044	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs188056844	chr7:11296056-11296057	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533982389	chr7:11296070-11296071	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs75006596	chr7:11296072-11296073	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs190629861	chr7:11296091-11296092	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11277800-11305400	Weak transcription	Adipose Nuclei	Adipose
2	chr7:11288200-11297800	Weak transcription	Ovary	ovary
3	chr7:11288400-11296000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:11292800-11300800	Weak transcription	Liver	Liver
5	chr7:11296000-11296400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:11296400-11301200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:11297800-11298200	Enhancers	Ovary	ovary
8	chr7:11300800-11301600	Enhancers	Liver	Liver
9	chr7:11301000-11301400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:11301000-11301400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:11301000-11301400	Enhancers	Hela-S3	cervix
12	chr7:11301000-11301400	Enhancers	NH-A	brain
13	chr7:11301200-11301400	Flanking Active TSS	K562	blood
14	chr7:11301200-11301800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:11301600-11309200	Weak transcription	Liver	Liver
16	chr7:11309200-11309800	Strong transcription	Liver	Liver
17	chr7:11309800-11317200	Weak transcription	Liver	Liver

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