Variant report

Variant	nsv970449
Chromosome Location	chr7:18983678-18990069
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:18988860-18989010	HCT-116	colon:	n/a	n/a
2	CTCF	chr7:18988840-18988990	GM12871	blood:	n/a	n/a
3	CTCF	chr7:18988880-18989030	GM12873	blood:	n/a	n/a
4	CTCF	chr7:18989020-18989170	BE2_C	brain:	n/a	n/a
5	CTCF	chr7:18988920-18989070	AG09319	gingival:	n/a	n/a
6	CTCF	chr7:18988920-18989070	MCF-7	breast:	n/a	n/a
7	CTCF	chr7:18988920-18989070	NHEK	skin:	n/a	n/a
8	CTCF	chr7:18988800-18988950	GM06990	blood:	n/a	n/a
9	CTCF	chr7:18988900-18989050	A549	lung:	n/a	n/a
10	CTCF	chr7:18988945-18989010	Gliobla	brain:	n/a	n/a
11	CTCF	chr7:18988880-18989030	GM12875	blood:	n/a	n/a
12	CTCF	chr7:18988800-18988950	RPTEC	kidney:	n/a	n/a
13	CTCF	chr7:18988840-18988990	MCF-7	breast:	n/a	n/a
14	CTCF	chr7:18988847-18989059	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr7:18988820-18988970	NHEK	skin:	n/a	n/a
16	CTCF	chr7:18988935-18988939	Gliobla	brain:	n/a	n/a
17	CTCF	chr7:18988860-18989010	HEK293	kidney:	n/a	n/a
18	CTCF	chr7:18988920-18989070	GM12873	blood:	n/a	n/a
19	POLR2A	chr7:18986372-18986476	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr7:18987345-18987398	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr7:18983768-18983791	ProgFib	skin:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TWIST1-5	chr7:18988521-18989385	NONHSAT119370

No data

Variant related genes	Relation type
NPM1P13	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527455034	chr7:18983728-18983729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183446796	chr7:18983799-18983800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567171126	chr7:18983816-18983817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372911716	chr7:18983817-18983818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17140363	chr7:18983842-18983843	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144177164	chr7:18983845-18983846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568876813	chr7:18983887-18983888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539468898	chr7:18983888-18983889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187294662	chr7:18983896-18983897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558120483	chr7:18983911-18983912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148694069	chr7:18983922-18983923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561559150	chr7:18983938-18983939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142142985	chr7:18983945-18983946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374813671	chr7:18983961-18983962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374278609	chr7:18983996-18983997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147827319	chr7:18983999-18984000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141638113	chr7:18984020-18984021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544290803	chr7:18984022-18984023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367930400	chr7:18984047-18984048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145499833	chr7:18984058-18984059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2528409	chr7:18984076-18984077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs28379904	chr7:18984196-18984197	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182071489	chr7:18988205-18988206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555462593	chr7:18988283-18988284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372415177	chr7:18988308-18988309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577135542	chr7:18988310-18988311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73083871	chr7:18988341-18988342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552990523	chr7:18988351-18988352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574790949	chr7:18988377-18988378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149170836	chr7:18988403-18988404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6946444	chr7:18988413-18988414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563525587	chr7:18988420-18988421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185041075	chr7:18988477-18988478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76081575	chr7:18988498-18988499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs151250461	chr7:18988522-18988523	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs528037077	chr7:18988546-18988547	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs552309091	chr7:18988549-18988550	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs565731195	chr7:18988592-18988593	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs79063286	chr7:18988654-18988655	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs529178158	chr7:18988669-18988670	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs557423325	chr7:18988675-18988676	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs75966404	chr7:18988695-18988696	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs543747429	chr7:18988696-18988697	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs552340971	chr7:18988789-18988790	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs557215801	chr7:18988807-18988808	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs2051922	chr7:18988818-18988819	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs2051921	chr7:18988836-18988837	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs189826166	chr7:18988878-18988879	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs35515665	chr7:18988890-18988891	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs200406201	chr7:18988892-18988893	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18981400-18983800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr7:18983800-18984000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:18983800-18984200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr7:18988200-18988800	Enhancers	Muscle Satellite Cultured Cells	--

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