Variant report

Variant	nsv823004
Chromosome Location	chr5:12661189-12685744
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:12653349..12655490-chr5:12663314..12666064,2	K562	blood:
2	chr5:12660866..12661403-chr5:12804029..12804604,2	MCF-7	breast:
3	chr5:12679944..12681930-chr5:12685116..12688736,4	K562	blood:
4	chr5:12679944..12681930-chr5:12685116..12688736,4	K562	blood:
5	chr5:12652370..12654399-chr5:12657778..12661483,4	K562	blood:
6	chr10:102105957..102107814-chr5:12679811..12681638,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTNND2-3	chr5:12663441-12664022	NONHSAT100517

No data

Variant related genes	Relation type
ENSG00000231188	chromatin interactions
ENSG00000099194	chromatin interactions

Extended variants
information (count: 1269 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1269 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536677472	chr5:12661213-12661214	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193177213	chr5:12661227-12661228	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6876386	chr5:12661239-12661240	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182920239	chr5:12661251-12661252	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187307310	chr5:12661256-12661257	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534036865	chr5:12661268-12661269	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10073447	chr5:12661297-12661298	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576127223	chr5:12661331-12661332	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143932356	chr5:12661453-12661454	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs557251871	chr5:12661462-12661463	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs146867276	chr5:12661463-12661464	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs148930661	chr5:12661471-12661472	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs368882354	chr5:12661485-12661486	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs112458570	chr5:12661499-12661500	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs554616477	chr5:12661521-12661522	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs6880896	chr5:12661525-12661526	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540379792	chr5:12661530-12661531	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs115012895	chr5:12661547-12661548	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs569602271	chr5:12661548-12661549	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs62347655	chr5:12661647-12661648	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs11748080	chr5:12661656-12661657	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs544553794	chr5:12661679-12661680	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs563167348	chr5:12661683-12661684	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs143629916	chr5:12661687-12661688	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs6554742	chr5:12661704-12661705	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566529398	chr5:12661710-12661711	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs548614812	chr5:12661736-12661737	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs148085639	chr5:12661738-12661739	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs191713355	chr5:12661773-12661774	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs73045717	chr5:12661795-12661796	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553992053	chr5:12661817-12661818	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs141011578	chr5:12661819-12661820	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs556894381	chr5:12661833-12661834	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs150214910	chr5:12661839-12661840	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs35794511	chr5:12661843-12661844	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs536555638	chr5:12661871-12661872	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs554603959	chr5:12661875-12661876	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs370860569	chr5:12661892-12661893	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs566012749	chr5:12661896-12661897	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs544465718	chr5:12661902-12661903	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs531302172	chr5:12661905-12661906	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs576883795	chr5:12661906-12661907	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs544754797	chr5:12661920-12661921	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs562948079	chr5:12661980-12661981	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs536986638	chr5:12661984-12661985	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs554977781	chr5:12661989-12661990	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs530281715	chr5:12662007-12662008	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs542161450	chr5:12662019-12662020	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs560105026	chr5:12662028-12662029	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs527714067	chr5:12662029-12662030	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12653200-12663200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:12654400-12662800	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:12654600-12661800	Strong transcription	H1 Cell Line	embryonic stem cell
4	chr5:12658000-12661800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:12658200-12661400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:12658200-12662000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:12658800-12661800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:12659200-12661400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:12659400-12663400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:12659600-12661800	Weak transcription	Right Atrium	heart
11	chr5:12659800-12661400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:12660200-12671000	Weak transcription	K562	blood
13	chr5:12660400-12661400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:12660400-12661400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:12660600-12662800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:12661400-12661800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:12661400-12661800	Genic enhancers	H9 Cell Line	embryonic stem cell
18	chr5:12661400-12661800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:12661400-12661800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr5:12661400-12661800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:12661800-12662000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:12661800-12662400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:12661800-12662400	ZNF genes & repeats	Right Atrium	heart
24	chr5:12661800-12662600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:12661800-12662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:12661800-12662800	Genic enhancers	H1 Cell Line	embryonic stem cell
27	chr5:12661800-12662800	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr5:12661800-12662800	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr5:12661800-12662800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:12661800-12663000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:12662000-12662200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:12662000-12662800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:12662200-12662600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:12662400-12663800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:12662600-12662800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:12662600-12662800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:12662800-12663000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr5:12662800-12663200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:12662800-12663800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
40	chr5:12662800-12663800	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
41	chr5:12662800-12663800	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
42	chr5:12662800-12665200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
43	chr5:12662800-12665400	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
44	chr5:12662800-12665600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
45	chr5:12662800-12666200	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
46	chr5:12662800-12666200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
47	chr5:12663000-12664600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
48	chr5:12663000-12665000	Transcr. at gene 5' and 3'	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:12663200-12663800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr5:12663200-12668200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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