Variant report

Variant	nsv971201
Chromosome Location	chr7:21028141-21034740
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:21028658..21031192-chr7:21285950..21288687,2	MCF-7	breast:
2	chr7:21030959..21031728-chr7:21293405..21294297,3	MCF-7	breast:
3	chr7:21030868..21031815-chr7:21293621..21294401,4	MCF-7	breast:
4	chr7:21030941..21031589-chr7:21290459..21291400,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCB5-1	chr7:21032500-21033057	NONHSAT119439

Extended variants
information (count: 305 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536105056	chr7:21028192-21028193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs118183193	chr7:21028193-21028194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369216031	chr7:21028254-21028255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575928134	chr7:21028263-21028264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs59962015	chr7:21028269-21028270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199787507	chr7:21028270-21028271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371424183	chr7:21028271-21028272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200162959	chr7:21028274-21028275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563318751	chr7:21028374-21028375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576815475	chr7:21028389-21028390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545891931	chr7:21028393-21028394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17143639	chr7:21028402-21028403	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528267107	chr7:21028432-21028433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548007631	chr7:21028451-21028452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35462998	chr7:21028456-21028457	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181200408	chr7:21028464-21028465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146107400	chr7:21028484-21028485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139117534	chr7:21028485-21028486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149902042	chr7:21028494-21028495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547115897	chr7:21028497-21028498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369354422	chr7:21028503-21028504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536460075	chr7:21028525-21028526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73269804	chr7:21028614-21028615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs536043414	chr7:21028618-21028619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs36033277	chr7:21028739-21028740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556012398	chr7:21028812-21028813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547537982	chr7:21028833-21028834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183922199	chr7:21028834-21028835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144910272	chr7:21028835-21028836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188155549	chr7:21028927-21028928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181991755	chr7:21028952-21028953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377231415	chr7:21028963-21028964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186300788	chr7:21028974-21028975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559002087	chr7:21029001-21029002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572635120	chr7:21029035-21029036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541588413	chr7:21029044-21029045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561938945	chr7:21029086-21029087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530677272	chr7:21029145-21029146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550844237	chr7:21029158-21029159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564273656	chr7:21029186-21029187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533340440	chr7:21029207-21029208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547051167	chr7:21029228-21029229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368774187	chr7:21029239-21029240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566937858	chr7:21029240-21029241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529431003	chr7:21029306-21029307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148605865	chr7:21029329-21029330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10250802	chr7:21029343-21029344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs569442969	chr7:21029356-21029357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144172193	chr7:21029375-21029376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558423986	chr7:21029420-21029421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21026800-21028400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:21028000-21028600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr7:21028400-21028600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr7:21028600-21031400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:21028600-21032200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:21031200-21031400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:21031400-21031600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:21031400-21031800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:21031800-21032800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:21033000-21033200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:21033200-21033600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
12	chr7:21033600-21037800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:21034000-21037600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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