Variant report

Variant	nsv516983
Chromosome Location	chr7:13103636-13124156
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:12)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:13085851..13087402-chr7:13106082..13107771,2	K562	blood:
2	chr7:13105294..13107639-chr7:13110167..13112332,4	K562	blood:
3	chr7:13111805..13113325-chr7:13115222..13117599,2	K562	blood:
4	chr7:12776917..12778957-chr7:13100732..13103715,2	MCF-7	breast:
5	chr7:13104322..13106884-chr7:13107040..13109324,2	K562	blood:
6	chr7:13104322..13106884-chr7:13107040..13109324,2	K562	blood:
7	chr7:13105294..13107639-chr7:13110167..13112332,4	K562	blood:
8	chr7:13099163..13101911-chr7:13106498..13108964,2	K562	blood:
9	chr7:12724403..12726396-chr7:13103717..13106545,2	K562	blood:
10	chr7:13111805..13113325-chr7:13115222..13117599,2	K562	blood:
11	chr7:12730592..12732679-chr7:13123373..13125180,2	K562	blood:
12	chr7:13100363..13102009-chr7:13102221..13104284,2	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: 826 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:826 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2160193	chr7:13103636-13103637	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544104911	chr7:13103655-13103656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563977520	chr7:13103666-13103667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145599848	chr7:13103687-13103688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542567981	chr7:13103689-13103690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7789528	chr7:13103699-13103700	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs528169622	chr7:13103700-13103701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112712108	chr7:13103707-13103708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564717095	chr7:13103711-13103712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539439279	chr7:13103716-13103717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10435052	chr7:13103725-13103726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530592516	chr7:13103750-13103751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs550616938	chr7:13103755-13103756	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs79670980	chr7:13103757-13103758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535485768	chr7:13103776-13103777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147024414	chr7:13103816-13103817	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566083894	chr7:13103845-13103846	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535110296	chr7:13103905-13103906	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572656333	chr7:13103919-13103920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs533174473	chr7:13104004-13104005	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546432264	chr7:13104055-13104056	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs112166681	chr7:13104067-13104068	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs528784104	chr7:13104094-13104095	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183210920	chr7:13104104-13104105	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs558496272	chr7:13104128-13104129	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549791605	chr7:13104159-13104160	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201485080	chr7:13104170-13104171	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs557378679	chr7:13104182-13104183	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs574227014	chr7:13104205-13104206	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542304742	chr7:13104247-13104248	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs559291101	chr7:13104304-13104305	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs187589412	chr7:13104313-13104314	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544726788	chr7:13104325-13104326	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs76866895	chr7:13104376-13104377	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs2058613	chr7:13104434-13104435	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs138293618	chr7:13104452-13104453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs571873322	chr7:13104478-13104479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs561077013	chr7:13104505-13104506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529994812	chr7:13104519-13104520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs192012670	chr7:13104552-13104553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs566054611	chr7:13104553-13104554	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs113716740	chr7:13104597-13104598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs10237710	chr7:13104624-13104625	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112321828	chr7:13104625-13104626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs116445864	chr7:13104644-13104645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs571726915	chr7:13104685-13104686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs537249929	chr7:13104802-13104803	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs77932254	chr7:13104805-13104806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567905236	chr7:13104836-13104837	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs140545442	chr7:13104861-13104862	Weak transcription	Chromatin interactive region	1 gene(s)	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:39 , 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	chr7:13103000-13106800	Weak transcription	HepG2	liver
4	chr7:13103600-13104200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:13103800-13104200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:13103800-13104200	Enhancers	NHEK	skin
7	chr7:13104000-13104200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:13104000-13104400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:13104400-13109400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:13106400-13106600	Enhancers	K562	blood
11	chr7:13106600-13107000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:13106600-13107000	Flanking Active TSS	K562	blood
13	chr7:13106800-13107400	Enhancers	HepG2	liver
14	chr7:13107000-13117400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:13109400-13112000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:13111200-13112200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:13111400-13111800	Enhancers	Colon Smooth Muscle	Colon
18	chr7:13111400-13112200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:13111600-13112200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:13111800-13112200	Enhancers	NHEK	skin
21	chr7:13112200-13113200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:13112200-13116600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:13112200-13116600	Weak transcription	NHEK	skin
24	chr7:13113200-13113400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:13116200-13118000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr7:13116600-13116800	Enhancers	HMEC	breast
27	chr7:13116600-13117000	Enhancers	HSMMtube	muscle
28	chr7:13116600-13117600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:13116600-13117600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:13116600-13117600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:13116600-13117800	Enhancers	HSMM	muscle
32	chr7:13116600-13117800	Enhancers	HUVEC	blood vessel
33	chr7:13116600-13117800	Enhancers	NHEK	skin
34	chr7:13116600-13117800	Enhancers	Osteobl	bone
35	chr7:13116600-13118000	Enhancers	NH-A	brain
36	chr7:13116600-13118400	Enhancers	A549	lung
37	chr7:13116800-13117800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:13117400-13117600	Enhancers	HMEC	breast
39	chr7:13117400-13118600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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