Variant report

Variant	nsv608379
Chromosome Location	chr7:126643692-126657545
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:2)
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	Cell Stage
1	chr7:126634749..126636430-chr7:126647798..126650007,2	K562	blood:
2	chr10:97065210..97065763-chr7:126649354..126650093,2	MCF-7	breast:
3	chr7:126643620..126647077-chr7:126648157..126650582,3	K562	blood:
4	7:126651745-126656082..7:126756671-126761022	H1-hESC	embryonic stem cell:	embryo
5	chr7:126643620..126647077-chr7:126648157..126650582,3	K562	blood:
6	chr7:126634749..126637802-chr7:126647798..126650684,3	K562	blood:
7	7:126651745-126656082..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARF5-15	chr7:126646757-126646992	ucscGeneNc_uc003vlv_2
2	lnc-ARF5-15	chr7:126655663-126657210	ucscGeneNc_uc003vlv_2

No data

Variant related genes	Relation type
ENSG00000179603	chromatin interactions

Extended variants
information (count: 243 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79001765	chr7:126645862-126645863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564426746	chr7:126645880-126645881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528340209	chr7:126645901-126645902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546781405	chr7:126645933-126645934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2283088	chr7:126645953-126645954	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
6	rs532948868	chr7:126645975-126645976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529434614	chr7:126645980-126645981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17866577	chr7:126645989-126645990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550648994	chr7:126646048-126646049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549981512	chr7:126646076-126646077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151214492	chr7:126646098-126646099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183859472	chr7:126646103-126646104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567165889	chr7:126646121-126646122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140299420	chr7:126646137-126646138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17867730	chr7:126646229-126646230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564421885	chr7:126646287-126646288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17869242	chr7:126646296-126646297	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs143581821	chr7:126646351-126646352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77090344	chr7:126646353-126646354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17867731	chr7:126646375-126646376	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190534482	chr7:126646395-126646396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7778604	chr7:126646480-126646481	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs182963618	chr7:126646517-126646518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573093819	chr7:126646523-126646524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17869415	chr7:126646524-126646525	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs146972679	chr7:126646552-126646553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187311189	chr7:126646553-126646554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550686729	chr7:126646669-126646670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561502181	chr7:126646768-126646769	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs562661813	chr7:126646774-126646775	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs375488743	chr7:126646815-126646816	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs533215673	chr7:126646833-126646834	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs139183531	chr7:126646888-126646889	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs191758815	chr7:126646901-126646902	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs17864094	chr7:126646919-126646920	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs549396677	chr7:126646925-126646926	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs534762422	chr7:126651755-126651756	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555765324	chr7:126651766-126651767	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547019748	chr7:126651780-126651781	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568104158	chr7:126651790-126651791	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs559666133	chr7:126651797-126651798	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs17866850	chr7:126651805-126651806	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs373617330	chr7:126651844-126651845	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs557209748	chr7:126651872-126651873	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs575505295	chr7:126651946-126651947	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs192725720	chr7:126651962-126651963	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558026068	chr7:126652007-126652008	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs79386987	chr7:126652016-126652017	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs540764090	chr7:126652017-126652018	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs28734908	chr7:126652042-126652043	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Malignant melanoma	17260012	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126645800-126646800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr7:126646000-126646800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:126646200-126646800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:126646200-126646800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:126646200-126647000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:126646400-126646800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:126646400-126646800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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