Variant report

Variant	nsv970511
Chromosome Location	chr7:65167952-65190867
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:1)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65189487..65191931-chr7:65193977..65196871,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GUSB-5	chr7:65187627-65189100	ENSG00000248460
2	lnc-GUSB-5	chr7:65187005-65187097	NONHSAT121100
3	lnc-GUSB-5	chr7:65187621-65189100	NONHSAT121101
4	lnc-GUSB-5	chr7:65187105-65187263	NONHSAT121098
5	lnc-GUSB-5	chr7:65180784-65180823	NONHSAT121098
6	lnc-GUSB-5	chr7:65180472-65180823	NONHSAT121099
7	lnc-GUSB-5	chr7:65172701-65172795	NONHSAT121098
8	lnc-GUSB-9	chr7:65168869-65170261	NONHSAT121096
9	lnc-GUSB-5	chr7:65190450-65191179	NONHSAT121098

No data

Variant related genes	Relation type
MCOLN2	miRNA target sites

Extended variants
information (count: 482 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533448499	chr7:65169074-65169075	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs3981831	chr7:65169107-65169108	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs550482964	chr7:65169198-65169199	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs373433065	chr7:65169201-65169202	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs570129054	chr7:65169307-65169308	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs181836385	chr7:65169426-65169427	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs565842121	chr7:65169447-65169448	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs2419445	chr7:65169449-65169450	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs2419444	chr7:65169456-65169457	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs199703298	chr7:65169457-65169458	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs557724847	chr7:65169458-65169459	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs371453953	chr7:65169466-65169467	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs552082941	chr7:65169467-65169468	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs578003200	chr7:65169471-65169472	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs545765743	chr7:65169472-65169473	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs556452019	chr7:65169473-65169474	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs576130707	chr7:65169476-65169477	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs143284242	chr7:65169483-65169484	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs542062480	chr7:65169495-65169496	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs561725523	chr7:65169525-65169526	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs527386747	chr7:65169692-65169693	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs200241114	chr7:65169705-65169706	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs555453075	chr7:65169711-65169712	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs548693922	chr7:65169752-65169753	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs541175819	chr7:65169756-65169757	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs563909427	chr7:65169763-65169764	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs532971849	chr7:65169940-65169941	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs550178042	chr7:65169985-65169986	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs564022347	chr7:65170046-65170047	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs529402851	chr7:65170088-65170089	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs549167150	chr7:65170092-65170093	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs557614309	chr7:65170247-65170248	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs112124524	chr7:65170253-65170254	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs113311230	chr7:65170255-65170256	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs544664575	chr7:65172767-65172768	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs561382850	chr7:65172772-65172773	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs530074795	chr7:65172789-65172790	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs566172785	chr7:65178410-65178411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528430949	chr7:65178445-65178446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530771948	chr7:65178446-65178447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571593671	chr7:65178447-65178448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183877659	chr7:65178453-65178454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539729832	chr7:65178472-65178473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369066071	chr7:65178476-65178477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71235679	chr7:65178515-65178516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188123209	chr7:65178540-65178541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535664082	chr7:65178562-65178563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555463557	chr7:65178658-65178659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533415135	chr7:65178675-65178676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540807122	chr7:65178734-65178735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65178400-65178600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:65178600-65191600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:65181000-65192200	Weak transcription	Fetal Intestine Small	intestine
4	chr7:65182000-65189800	Weak transcription	Brain Anterior Caudate	brain
5	chr7:65182600-65196400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:65182600-65215200	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:65183400-65185400	Enhancers	HUVEC	blood vessel
8	chr7:65183800-65196600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:65185600-65187200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:65185800-65190600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:65185800-65191000	Weak transcription	Dnd41	blood
12	chr7:65186000-65196400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:65186600-65190600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:65186600-65196600	Weak transcription	Ovary	ovary
15	chr7:65187000-65191800	Weak transcription	Fetal Lung	lung
16	chr7:65187200-65187400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:65187200-65187400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr7:65187200-65187400	Enhancers	Fetal Thymus	thymus
19	chr7:65187200-65187600	Enhancers	Primary B cells from peripheral blood	blood
20	chr7:65187200-65187600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr7:65187200-65187800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr7:65187200-65193200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:65187200-65196400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:65187200-65196400	Weak transcription	Esophagus	oesophagus
25	chr7:65187400-65187600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:65187400-65187600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr7:65187400-65187600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr7:65187400-65187600	Enhancers	Primary T cells from cord blood	blood
29	chr7:65187400-65187600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:65187400-65187600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr7:65187400-65187600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:65187400-65187600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:65187400-65187600	Enhancers	Adipose Nuclei	Adipose
34	chr7:65187400-65187600	Enhancers	Liver	Liver
35	chr7:65187400-65187600	Enhancers	Fetal Stomach	stomach
36	chr7:65187400-65187600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr7:65187400-65187600	Active TSS	Spleen	Spleen
38	chr7:65187400-65187800	Enhancers	Colon Smooth Muscle	Colon
39	chr7:65187400-65188400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:65187400-65190600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:65187400-65190800	Weak transcription	Fetal Thymus	thymus
42	chr7:65187600-65187800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:65187600-65187800	Enhancers	Brain Germinal Matrix	brain
44	chr7:65187600-65188000	Weak transcription	Fetal Stomach	stomach
45	chr7:65187600-65189400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:65187600-65191000	Weak transcription	Liver	Liver
47	chr7:65187600-65191000	Weak transcription	Spleen	Spleen
48	chr7:65187600-65191600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:65187600-65196200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr7:65187600-65196400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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