Variant report

Variant	nsv1033343
Chromosome Location	chr7:13108153-13130069
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:13129497..13132046-chr7:13137053..13139000,2	K562	blood:
2	chr7:13111805..13113325-chr7:13115222..13117599,2	K562	blood:
3	chr7:13111805..13113325-chr7:13115222..13117599,2	K562	blood:
4	chr7:13104322..13106884-chr7:13107040..13109324,2	K562	blood:
5	chr7:13099163..13101911-chr7:13106498..13108964,2	K562	blood:
6	chr7:13105294..13107639-chr7:13110167..13112332,4	K562	blood:
7	chr7:12730592..12732679-chr7:13123373..13125180,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-7	chr7:13108158-13108539	NONHSAT119247

No data

Extended variants
information (count: 590 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190047914	chr7:13108156-13108157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563281177	chr7:13108166-13108167	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs573685217	chr7:13108205-13108206	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs542336542	chr7:13108232-13108233	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs140009613	chr7:13108272-13108273	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs79016350	chr7:13108284-13108285	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs528279599	chr7:13108287-13108288	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs529019259	chr7:13108301-13108302	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs181344938	chr7:13108302-13108303	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs557766359	chr7:13108329-13108330	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs117898146	chr7:13108343-13108344	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs4719351	chr7:13108350-13108351	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs570054011	chr7:13108368-13108369	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs528097826	chr7:13108390-13108391	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs529268689	chr7:13108406-13108407	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs150424691	chr7:13108437-13108438	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs551221855	chr7:13108447-13108448	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs10254239	chr7:13108475-13108476	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566130003	chr7:13108485-13108486	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs112000764	chr7:13108491-13108492	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs558376493	chr7:13108502-13108503	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs114287806	chr7:13108503-13108504	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs537729453	chr7:13108522-13108523	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs117576434	chr7:13108539-13108540	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs530731576	chr7:13108581-13108582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573598951	chr7:13108584-13108585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542177523	chr7:13108606-13108607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552653311	chr7:13108688-13108689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550543367	chr7:13108689-13108690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs66469131	chr7:13108693-13108694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565067051	chr7:13108705-13108706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536377606	chr7:13108720-13108721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376371531	chr7:13108746-13108747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141334774	chr7:13108755-13108756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560982993	chr7:13108776-13108777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529304684	chr7:13108780-13108781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6460997	chr7:13108786-13108787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs566220386	chr7:13108844-13108845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562671187	chr7:13108879-13108880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184742101	chr7:13108952-13108953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571835837	chr7:13108974-13108975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537215182	chr7:13108976-13108977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114478502	chr7:13108985-13108986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375200785	chr7:13109010-13109011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567574587	chr7:13109037-13109038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566836186	chr7:13109064-13109065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202190969	chr7:13109088-13109089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535891485	chr7:13109105-13109106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552535846	chr7:13109217-13109218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572630221	chr7:13109231-13109232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13104400-13109400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:13107000-13117400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:13109400-13112000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:13111200-13112200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:13111400-13111800	Enhancers	Colon Smooth Muscle	Colon
6	chr7:13111400-13112200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:13111600-13112200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:13111800-13112200	Enhancers	NHEK	skin
9	chr7:13112200-13113200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:13112200-13116600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:13112200-13116600	Weak transcription	NHEK	skin
12	chr7:13113200-13113400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:13116200-13118000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:13116600-13116800	Enhancers	HMEC	breast
15	chr7:13116600-13117000	Enhancers	HSMMtube	muscle
16	chr7:13116600-13117600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:13116600-13117600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:13116600-13117600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:13116600-13117800	Enhancers	HSMM	muscle
20	chr7:13116600-13117800	Enhancers	HUVEC	blood vessel
21	chr7:13116600-13117800	Enhancers	NHEK	skin
22	chr7:13116600-13117800	Enhancers	Osteobl	bone
23	chr7:13116600-13118000	Enhancers	NH-A	brain
24	chr7:13116600-13118400	Enhancers	A549	lung
25	chr7:13116800-13117800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:13117400-13117600	Enhancers	HMEC	breast
27	chr7:13117400-13118600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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