Variant report

Variant	nsv1022402
Chromosome Location	chr7:13102902-13130069
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:14)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:13104322..13106884-chr7:13107040..13109324,2	K562	blood:
2	chr7:13095947..13098043-chr7:13101119..13103304,2	MCF-7	breast:
3	chr7:13099163..13101911-chr7:13106498..13108964,2	K562	blood:
4	chr7:13129497..13132046-chr7:13137053..13139000,2	K562	blood:
5	chr7:13105294..13107639-chr7:13110167..13112332,4	K562	blood:
6	chr7:12776917..12778957-chr7:13100732..13103715,2	MCF-7	breast:
7	chr7:13111805..13113325-chr7:13115222..13117599,2	K562	blood:
8	chr7:13105294..13107639-chr7:13110167..13112332,4	K562	blood:
9	chr7:13104322..13106884-chr7:13107040..13109324,2	K562	blood:
10	chr7:12730592..12732679-chr7:13123373..13125180,2	K562	blood:
11	chr7:12724403..12726396-chr7:13103717..13106545,2	K562	blood:
12	chr7:13111805..13113325-chr7:13115222..13117599,2	K562	blood:
13	chr7:13100363..13102009-chr7:13102221..13104284,2	K562	blood:
14	chr7:13085851..13087402-chr7:13106082..13107771,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-7	chr7:13107541-13107733	NONHSAT119247
2	lnc-ARL4A-7	chr7:13108158-13108539	NONHSAT119247
3	lnc-ARL4A-7	chr7:13107622-13107733	NONHSAT119248

No data

Variant related genes	Relation type
ENSG00000271253	chromatin interactions

Extended variants
information (count: 866 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:866 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2357192	chr7:13102902-13102903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181272420	chr7:13102916-13102917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569817143	chr7:13102917-13102918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539386416	chr7:13102918-13102919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9654932	chr7:13102919-13102920	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs369035173	chr7:13102946-13102947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565712795	chr7:13103051-13103052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534786087	chr7:13103054-13103055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs736198	chr7:13103059-13103060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571167503	chr7:13103083-13103084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543413770	chr7:13103085-13103086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146183079	chr7:13103091-13103092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112857962	chr7:13103100-13103101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556135914	chr7:13103103-13103104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576515663	chr7:13103126-13103127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371951279	chr7:13103136-13103137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555804282	chr7:13103149-13103150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186227058	chr7:13103150-13103151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374302101	chr7:13103213-13103214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367655752	chr7:13103216-13103217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564775023	chr7:13103221-13103222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139140759	chr7:13103231-13103232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113323938	chr7:13103240-13103241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2006291	chr7:13103260-13103261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs529009778	chr7:13103262-13103263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544695780	chr7:13103267-13103268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566235655	chr7:13103270-13103271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565732388	chr7:13103328-13103329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182747932	chr7:13103329-13103330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2005878	chr7:13103362-13103363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs146464064	chr7:13103369-13103370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186035432	chr7:13103379-13103380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556166924	chr7:13103385-13103386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569973859	chr7:13103395-13103396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140817162	chr7:13103403-13103404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555590839	chr7:13103408-13103409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560840878	chr7:13103454-13103455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114417622	chr7:13103465-13103466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76608016	chr7:13103499-13103500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149724871	chr7:13103583-13103584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2160193	chr7:13103636-13103637	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs544104911	chr7:13103655-13103656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563977520	chr7:13103666-13103667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145599848	chr7:13103687-13103688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542567981	chr7:13103689-13103690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7789528	chr7:13103699-13103700	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528169622	chr7:13103700-13103701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112712108	chr7:13103707-13103708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564717095	chr7:13103711-13103712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539439279	chr7:13103716-13103717	Weak transcription Enhancers	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13095000-13103800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:13100400-13104000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:13101200-13103000	Enhancers	Fetal Intestine Large	intestine
4	chr7:13101400-13103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:13101800-13103000	Enhancers	Fetal Intestine Small	intestine
6	chr7:13102400-13103000	Enhancers	HepG2	liver
7	chr7:13103000-13106800	Weak transcription	HepG2	liver
8	chr7:13103600-13104200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:13103800-13104200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:13103800-13104200	Enhancers	NHEK	skin
11	chr7:13104000-13104200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:13104000-13104400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:13104400-13109400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:13106400-13106600	Enhancers	K562	blood
15	chr7:13106600-13107000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:13106600-13107000	Flanking Active TSS	K562	blood
17	chr7:13106800-13107400	Enhancers	HepG2	liver
18	chr7:13107000-13117400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:13109400-13112000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr7:13111200-13112200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:13111400-13111800	Enhancers	Colon Smooth Muscle	Colon
22	chr7:13111400-13112200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:13111600-13112200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:13111800-13112200	Enhancers	NHEK	skin
25	chr7:13112200-13113200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:13112200-13116600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:13112200-13116600	Weak transcription	NHEK	skin
28	chr7:13113200-13113400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:13116200-13118000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr7:13116600-13116800	Enhancers	HMEC	breast
31	chr7:13116600-13117000	Enhancers	HSMMtube	muscle
32	chr7:13116600-13117600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:13116600-13117600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:13116600-13117600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:13116600-13117800	Enhancers	HSMM	muscle
36	chr7:13116600-13117800	Enhancers	HUVEC	blood vessel
37	chr7:13116600-13117800	Enhancers	NHEK	skin
38	chr7:13116600-13117800	Enhancers	Osteobl	bone
39	chr7:13116600-13118000	Enhancers	NH-A	brain
40	chr7:13116600-13118400	Enhancers	A549	lung
41	chr7:13116800-13117800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:13117400-13117600	Enhancers	HMEC	breast
43	chr7:13117400-13118600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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