Variant report

Variant	nsv970618
Chromosome Location	chr7:152839706-152842786
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:152841676-152841726	NHBE	bronchial:	n/a
2	chr7:152841676-152841726	HNPCEpiC	eye:	n/a
3	chr7:152841676-152841726	K562	blood:	n/a
4	chr7:152841676-152841726	A549	lung:	n/a
5	chr7:152842263-152842313	AG10803	skin:	n/a
6	chr7:152842263-152842313	IMR90	lung:	fetal
7	chr7:152842263-152842313	HRPEpiC	eye:	n/a
8	chr7:152841676-152841726	Hepatocyte	liver:	n/a
9	chr7:152842263-152842313	HPAEpiC	pulmonary alveolar:	n/a
10	chr7:152842263-152842313	T-47D	breast:	n/a
11	chr7:152841676-152841726	HEEpiC	esophagus:	n/a
12	chr7:152841676-152841726	AoSMC	blood vessel:	n/a
13	chr7:152841676-152841726	PANC-1	pancreas:	n/a
14	chr7:152841676-152841726	U87	brain:	n/a
15	chr7:152841676-152841726	NH-A	brain:	n/a
16	chr7:152841676-152841726	BJ	skin:	n/a
17	chr7:152842263-152842313	NT2-D1	testis:	n/a
18	chr7:152841676-152841726	GM12891	blood:	n/a
19	chr7:152841676-152841726	HUVEC	blood vessel:	n/a
20	chr7:152842263-152842313	NH-A	brain:	n/a
21	chr7:152841676-152841726	Caco-2	colon:	n/a
22	chr7:152841676-152841726	T-47D	breast:	n/a
23	chr7:152841676-152841726	HepG2	liver:	n/a
24	chr7:152842263-152842313	GM06990	blood:	n/a
25	chr7:152841676-152841726	SK-N-SH_RA	brain:	n/a
26	chr7:152842263-152842313	GM19239	blood:	n/a
27	chr7:152842263-152842313	HMEC	breast:	n/a
28	chr7:152842263-152842313	AoSMC	blood vessel:	n/a
29	chr7:152842263-152842313	HRCEpiC	kidney:	n/a
30	chr7:152842263-152842313	ECC-1	luminal epithelium:	n/a
31	chr7:152841676-152841726	HCF	heart:	n/a
32	chr7:152842263-152842313	HEK293	kidney:	embryo
33	chr7:152841676-152841726	GM12878	blood:	n/a
34	chr7:152842263-152842313	AG09309	skin:	n/a
35	chr7:152842263-152842313	SAEC	small airway:	n/a
36	chr7:152842263-152842313	NHBE	bronchial:	n/a
37	chr7:152842263-152842313	Jurkat	blood:	n/a
38	chr7:152841676-152841726	H1-hESC	embryonic stem cell:	embryo
39	chr7:152842263-152842313	SKMC	muscle:	n/a
40	chr7:152842263-152842313	HNPCEpiC	eye:	n/a
41	chr7:152842263-152842313	SK-N-SH	brain:	n/a
42	chr7:152841676-152841726	BE2_C	brain:	n/a
43	chr7:152842263-152842313	U87	brain:	n/a
44	chr7:152842263-152842313	GM12878	blood:	n/a
45	chr7:152841676-152841726	NB4	blood:	n/a
46	chr7:152841676-152841726	HCT-116	colon:	n/a
47	chr7:152842263-152842313	NB4	blood:	n/a
48	chr7:152842263-152842313	NHDF-neo	bronchial:	n/a
49	chr7:152842263-152842313	HCF	heart:	n/a
50	chr7:152841676-152841726	HAEpiC	amniotic membrane:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XRCC2-11	chr7:152841398-152841673	NONHSAT124290

No data

Variant related genes	Relation type
ENSG00000224104	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556441557	chr7:152841401-152841402	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs563860921	chr7:152841402-152841403	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs531250314	chr7:152841437-152841438	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs558610259	chr7:152841452-152841453	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs552566089	chr7:152841453-152841454	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs34228237	chr7:152841460-152841461	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs10247433	chr7:152841461-152841462	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547128527	chr7:152841486-152841487	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs112311938	chr7:152841502-152841503	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs10277328	chr7:152841505-152841506	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554736504	chr7:152841517-152841518	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs569719328	chr7:152841538-152841539	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs186747856	chr7:152841542-152841543	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs558843035	chr7:152841559-152841560	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs577320666	chr7:152841560-152841561	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs541428619	chr7:152841574-152841575	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs553552809	chr7:152841595-152841596	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs574860398	chr7:152841611-152841612	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs201253937	chr7:152841620-152841621	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs563245363	chr7:152841622-152841623	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs530641090	chr7:152841660-152841661	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs10277262	chr7:152841676-152841677	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs542991406	chr7:152841689-152841690	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs561191849	chr7:152841706-152841707	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs78308371	chr7:152842266-152842267	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs144017851	chr7:152842267-152842268	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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