Variant report

Variant	nsv970425
Chromosome Location	chr7:124812812-124822088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:124820580..124823044-chr7:124838776..124840487,2	MCF-7	breast:
2	chr7:124816634..124819440-chr7:124929772..124932344,2	K562	blood:
3	chr7:124715890..124718550-chr7:124819406..124822329,2	MCF-7	breast:
4	chr7:124701246..124703610-chr7:124820642..124822320,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPAM1-4	chr7:124817698-124819369	ENSG00000224897

Variant related genes	Relation type
CDKN2AIP	miRNA target sites

Extended variants
information (count: 165 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189173716	chr7:124817757-124817758	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs548629892	chr7:124817803-124817804	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs568412917	chr7:124817825-124817826	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs533857441	chr7:124817828-124817829	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs147920059	chr7:124817884-124817885	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs182013473	chr7:124817893-124817894	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs792627	chr7:124817906-124817907	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs555933990	chr7:124817911-124817912	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs141768279	chr7:124817934-124817935	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs113156580	chr7:124817936-124817937	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs150316254	chr7:124817948-124817949	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs529637808	chr7:124817969-124817970	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs571974407	chr7:124818002-124818003	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs543268781	chr7:124818015-124818016	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs201699256	chr7:124818036-124818037	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs540579869	chr7:124818088-124818089	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs560791758	chr7:124818094-124818095	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs531989068	chr7:124818147-124818148	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs577603066	chr7:124818154-124818155	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs137997823	chr7:124818161-124818162	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs185855629	chr7:124818162-124818163	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs531862247	chr7:124818203-124818204	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs542273467	chr7:124818216-124818217	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs112833441	chr7:124818260-124818261	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs540683832	chr7:124818329-124818330	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs189050130	chr7:124818340-124818341	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs574223740	chr7:124818341-124818342	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs199683428	chr7:124818350-124818351	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs541641103	chr7:124818369-124818370	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs74771778	chr7:124818412-124818413	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs533044848	chr7:124818426-124818427	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs792628	chr7:124818475-124818476	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs569487058	chr7:124818558-124818559	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs535191404	chr7:124818607-124818608	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs181139042	chr7:124818623-124818624	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs565542817	chr7:124818663-124818664	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs74835073	chr7:124818750-124818751	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs138756971	chr7:124818754-124818755	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs76912245	chr7:124818770-124818771	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs141800762	chr7:124818805-124818806	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs186365810	chr7:124818836-124818837	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs115831328	chr7:124818858-124818859	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs113461817	chr7:124818866-124818867	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs551627572	chr7:124818876-124818877	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs116181369	chr7:124818891-124818892	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs137984161	chr7:124818956-124818957	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs141745144	chr7:124818971-124818972	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs563699600	chr7:124819054-124819055	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
49	rs530847321	chr7:124819062-124819063	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
50	rs28603354	chr7:124819091-124819092	ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

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
Myelodysplastic syndrome	21251322	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
Epilepsy	21635232	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	20858243	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124819000-124819400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr7:124819400-124821600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:124821600-124821800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr7:124821600-124821800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:124821600-124822000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:124821600-124822200	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr7:124821600-124822200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:124821600-124822200	Active TSS	K562	blood
9	chr7:124821600-124822400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:124821600-124822400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:124821800-124822000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
12	chr7:124821800-124822000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:124821800-124822200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr7:124821800-124822200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:124822000-124822200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr7:124822000-124822200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
17	chr7:124822000-124822400	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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