Variant report

Variant	nsv1019934
Chromosome Location	chr5:12675442-12744442
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:15)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:12679944..12681930-chr5:12685116..12688736,4	K562	blood:
2	chr5:12703528..12705046-chr5:12710595..12712392,2	K562	blood:
3	chr5:12743681..12745562-chr5:12760278..12762840,2	K562	blood:
4	chr10:102105957..102107814-chr5:12679811..12681638,2	MCF-7	breast:
5	chr5:12702448..12704226-chr5:12718051..12720709,2	K562	blood:
6	chr5:12702448..12704226-chr5:12718051..12720709,2	K562	blood:
7	chr5:12718842..12720474-chr5:12721962..12723532,2	K562	blood:
8	chr5:12696352..12698473-chr5:12701723..12704711,2	MCF-7	breast:
9	chr5:12679944..12681930-chr5:12685116..12688736,4	K562	blood:
10	chr5:12718842..12720474-chr5:12721962..12723532,2	K562	blood:
11	chr2:127182543..127183530-chr5:12689783..12690762,2	MCF-7	breast:
12	chr5:12710496..12712610-chr5:12713708..12716321,2	MCF-7	breast:
13	chr5:12696352..12698473-chr5:12701723..12704711,2	MCF-7	breast:
14	chr5:12703528..12705046-chr5:12710595..12712392,2	K562	blood:
15	chr5:12710496..12712610-chr5:12713708..12716321,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTNND2-3	chr5:12723669-12723939	NONHSAT100517
2	lnc-TRIO-4	chr5:12711310-12711411	ENSG00000248131
3	lnc-CTNND2-3	chr5:12737810-12737969	NONHSAT100517
4	lnc-TRIO-9	chr5:12707759-12708641	l_2878_chr5:12648870-12708792_testes
5	lnc-TRIO-4	chr5:12711310-12711411	NONHSAT100511
6	lnc-TRIO-4	chr5:12711310-12711411	ENSG00000248131
7	lnc-TRIO-4	chr5:12711310-12711411	NONHSAT100514
8	lnc-TRIO-9	chr5:12708650-12708792	l_2878_chr5:12648870-12708792_testes

No data

Variant related genes	Relation type
ENSG00000099194	chromatin interactions
ENSG00000231188	chromatin interactions
PURA	miRNA target sites
CITED2	miRNA target sites

Extended variants
information (count: 2514 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:2514 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150117873	chr5:12675503-12675504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556382167	chr5:12675515-12675516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72733286	chr5:12675537-12675538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557061231	chr5:12675547-12675548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541422836	chr5:12675583-12675584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73045739	chr5:12675617-12675618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs527369967	chr5:12675624-12675625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371175909	chr5:12675696-12675697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11746503	chr5:12675698-12675699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564050573	chr5:12675731-12675732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531901877	chr5:12675740-12675741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4610458	chr5:12675748-12675749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs370867488	chr5:12675772-12675773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556143423	chr5:12675789-12675790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529652181	chr5:12675798-12675799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147789869	chr5:12675803-12675804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191909837	chr5:12675804-12675805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540471537	chr5:12675844-12675845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539862970	chr5:12675949-12675950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558196470	chr5:12676039-12676040	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545042576	chr5:12676083-12676084	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537999250	chr5:12676122-12676123	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375988996	chr5:12676140-12676141	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74550537	chr5:12676171-12676172	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574382198	chr5:12676172-12676173	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115180918	chr5:12676173-12676174	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375259867	chr5:12676203-12676204	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553331952	chr5:12676228-12676229	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368132349	chr5:12676231-12676232	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545411919	chr5:12676248-12676249	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564170347	chr5:12676259-12676260	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182711558	chr5:12676288-12676289	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73744980	chr5:12676309-12676310	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs141751890	chr5:12676310-12676311	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114802525	chr5:12676374-12676375	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187064408	chr5:12676385-12676386	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566024136	chr5:12676397-12676398	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560105280	chr5:12676398-12676399	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192385779	chr5:12676436-12676437	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140178421	chr5:12676458-12676459	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551486572	chr5:12676464-12676465	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548892214	chr5:12676557-12676558	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372192288	chr5:12676560-12676561	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539430806	chr5:12676657-12676658	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs561105210	chr5:12676662-12676663	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs184413983	chr5:12676702-12676703	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs567943499	chr5:12676718-12676719	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs188894220	chr5:12676729-12676730	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs4702896	chr5:12676741-12676742	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569791773	chr5:12676758-12676759	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12672400-12726000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:12672600-12676000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:12672600-12677200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:12672600-12677600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:12672600-12683000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:12674000-12676000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:12674400-12676000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:12674400-12688400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:12674800-12676000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:12676000-12676400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr5:12676000-12676600	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr5:12676000-12676600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:12676000-12676800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr5:12676400-12677400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:12676600-12676800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr5:12676600-12682000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:12676800-12677200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:12676800-12688600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:12677400-12677800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr5:12677600-12677800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:12677800-12679600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:12679600-12680000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:12680000-12680400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:12680400-12680600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:12680600-12683600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:12682000-12682800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:12682200-12682600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:12682800-12683600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:12683600-12683800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:12683600-12684400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:12683800-12688600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:12684400-12685000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr5:12685000-12685200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr5:12685200-12688600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:12688400-12688800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr5:12688600-12689200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr5:12688600-12689200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:12688600-12689200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:12688800-12689200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:12688800-12689600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:12688800-12707200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr5:12689000-12689200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:12689200-12690600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:12689200-12690600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:12689200-12703200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:12689200-12706400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr5:12689600-12691400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:12690600-12690800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr5:12690600-12692000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:12691400-12691600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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