Variant report

Variant	nsv520090
Chromosome Location	chr7:50270014-50294856
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:4)
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	chr7:50269306..50271401-chr7:50275817..50277851,2	K562	blood:
2	chr7:50279801..50281481-chr7:50284318..50286818,2	K562	blood:
3	chr7:50279801..50281481-chr7:50284318..50286818,2	K562	blood:
4	chr7:50269306..50271401-chr7:50275817..50277851,2	K562	blood:
5	chr7:50264295..50265930-chr7:50268870..50271445,2	K562	blood:
6	chr7:50264905..50267302-chr7:50279314..50281338,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZPBP-3	chr7:50292780-50293016	XLOC_006439
2	lnc-ZPBP-3	chr7:50292780-50293016	XLOC_006439
3	lnc-ZPBP-3	chr7:50293894-50294534	XLOC_006439
4	lnc-ZPBP-3	chr7:50293894-50294206	XLOC_006439

No data

Variant related genes	Relation type
SUV420H1	miRNA target sites
SLX4	miRNA target sites
SMAD1	miRNA target sites

Extended variants
information (count: 635 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:635 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2124799	chr7:50270014-50270015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535405259	chr7:50270082-50270083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2168589	chr7:50270105-50270106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568745531	chr7:50270106-50270107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181920435	chr7:50270143-50270144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557905912	chr7:50270161-50270162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35680007	chr7:50270200-50270201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs368591940	chr7:50270251-50270252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10274916	chr7:50270281-50270282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187498321	chr7:50270306-50270307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6956110	chr7:50270362-50270363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs543385664	chr7:50270364-50270365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563162862	chr7:50270379-50270380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576778649	chr7:50270383-50270384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539909481	chr7:50270414-50270415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117233562	chr7:50270419-50270420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12113843	chr7:50270448-50270449	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs372062690	chr7:50270449-50270450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560986919	chr7:50270476-50270477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574126088	chr7:50270525-50270526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546839877	chr7:50270574-50270575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79572507	chr7:50276427-50276428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146187315	chr7:50276451-50276452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558839475	chr7:50276489-50276490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368428265	chr7:50276494-50276495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572218211	chr7:50276513-50276514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550897936	chr7:50276533-50276534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547377636	chr7:50276552-50276553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186264660	chr7:50276592-50276593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560994965	chr7:50276595-50276596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143902507	chr7:50276659-50276660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191558912	chr7:50276687-50276688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562817710	chr7:50276704-50276705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371597610	chr7:50276745-50276746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368894271	chr7:50276768-50276769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569532490	chr7:50276816-50276817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540126054	chr7:50276843-50276844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531476879	chr7:50276856-50276857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558533801	chr7:50276893-50276894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180816304	chr7:50276898-50276899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56315279	chr7:50276903-50276904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs565030845	chr7:50276917-50276918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186264054	chr7:50276958-50276959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34740011	chr7:50277006-50277007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs368614835	chr7:50277008-50277009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567296311	chr7:50277014-50277015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536263257	chr7:50277024-50277025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556856845	chr7:50277045-50277046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146406829	chr7:50277046-50277047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116185070	chr7:50277059-50277060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Multiple myeloma	16616336	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50269800-50270400	Weak transcription	Thymus	Thymus
2	chr7:50270400-50270600	Enhancers	Thymus	Thymus
3	chr7:50276400-50276800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr7:50276800-50280200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:50278800-50279000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:50279000-50280000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:50279800-50281200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:50280000-50280200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:50280000-50280800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr7:50280000-50281200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr7:50280200-50281000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr7:50280200-50284200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:50284200-50285800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:50287000-50287400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:50287400-50295800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:50289800-50290000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:50290200-50290400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr7:50290200-50291200	Enhancers	Primary T cells from cord blood	blood
19	chr7:50290200-50291400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:50290400-50290600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr7:50290400-50290600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:50290400-50291600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:50290600-50291400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:50290600-50291600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:50291200-50292000	Weak transcription	Primary T cells from cord blood	blood
26	chr7:50291400-50291800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:50291400-50292000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:50291400-50292200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr7:50291400-50293000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:50291600-50292000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr7:50291600-50292200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr7:50291600-50292400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr7:50292000-50292200	Enhancers	Primary T cells from cord blood	blood
34	chr7:50292000-50296400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr7:50292000-50298200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:50292200-50293800	Weak transcription	Primary T cells from cord blood	blood
37	chr7:50292200-50299200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:50293000-50298000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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