Variant report

Variant	nsv1048133
Chromosome Location	chr15:29936638-29961808
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:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:29959935..29960994-chr15:30217419..30218952,7	K562	blood:
2	chr15:29960217..29960909-chr15:30217898..30218871,5	MCF-7	breast:
3	chr15:29959926..29960944-chr15:30367131..30368208,4	K562	blood:
4	chr15:29960323..29960880-chr15:29979749..29980417,2	MCF-7	breast:
5	chr15:29960061..29960832-chr15:30227692..30229349,4	MCF-7	breast:
6	chr15:29960082..29960830-chr15:30033076..30034008,2	MCF-7	breast:
7	chr15:29960081..29960738-chr15:30322588..30323155,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TJP1-4	chr15:29938426-29938789	NONHSAT041298
2	lnc-TJP1-4	chr15:29949162-29949655	NONHSAT041298

No data

Extended variants
information (count: 1000 )
Associated
traits (count: 160 )

Variant overlapped rSNPs/rCNVs (count:1000 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147326097	chr15:29936641-29936642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371137998	chr15:29936648-29936649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529457331	chr15:29936679-29936680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141016297	chr15:29936680-29936681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17683108	chr15:29936711-29936712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs57715084	chr15:29936729-29936730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs551809810	chr15:29936735-29936736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113953402	chr15:29936744-29936745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534121533	chr15:29936767-29936768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547630922	chr15:29936772-29936773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147872254	chr15:29936773-29936774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535949270	chr15:29936789-29936790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555703344	chr15:29936828-29936829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189657811	chr15:29936835-29936836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183385776	chr15:29936836-29936837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558560357	chr15:29936843-29936844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111967387	chr15:29936899-29936900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540868217	chr15:29936900-29936901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112829056	chr15:29936920-29936921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551513713	chr15:29936929-29936930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112164323	chr15:29936985-29936986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543159450	chr15:29936993-29936994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371316286	chr15:29937018-29937019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142342424	chr15:29937075-29937076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562843366	chr15:29937108-29937109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552726567	chr15:29937119-29937120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534143782	chr15:29937121-29937122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531585713	chr15:29937123-29937124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551793101	chr15:29937175-29937176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565436597	chr15:29937199-29937200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572746426	chr15:29937223-29937224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538735485	chr15:29937227-29937228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567533142	chr15:29937239-29937240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200298671	chr15:29937282-29937283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529710438	chr15:29937291-29937292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188036954	chr15:29937323-29937324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367898898	chr15:29937339-29937340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71470919	chr15:29937344-29937345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372782984	chr15:29937376-29937377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549440625	chr15:29937382-29937383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569763526	chr15:29937401-29937402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538249461	chr15:29937439-29937440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192831579	chr15:29937464-29937465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565791718	chr15:29937466-29937467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534927793	chr15:29937472-29937473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11630675	chr15:29937484-29937485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536284888	chr15:29937489-29937490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554684563	chr15:29937505-29937506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574708153	chr15:29937506-29937507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370975976	chr15:29937521-29937522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:160)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prader-willi syndrome	21504564	CNVD
The inv dup or idic syndrome	19019226	CNVD
Prader-willi syndrome	21233802	CNVD
Angelman syndrome	16617304	CNVD
Angelman syndrome	20970697	CNVD
Autism	22958593	CNVD
Prader-willi syndrome	16617304	CNVD
Prader-willi syndrome	18923514	CNVD
Prader-willi syndrome	20970697	CNVD
Angelman syndrome	16183798	CNVD
Angelman syndrome	18923514	CNVD
Prader-willi syndrome	22241247	CNVD
Epilepsy	20970697	CNVD
Autism	20970697	CNVD
Autism	19935738	CNVD
Autism	22930557	CNVD
Autism	19966786	CNVD
Autism	18923514	CNVD
Autism	18925931	CNVD
Autism	18835857	CNVD
Prader-willi syndrome	18835857	CNVD
Prader-willi syndrome	22152151	CNVD
Autism	22241247	CNVD
15q-syndrome	21725066	CNVD
Prader-willi syndrome	21503198	CNVD
Autism	21956041	CNVD
Prader-willi syndrome	16760730	CNVD
Prader-willi syndrome	22470819	CNVD
prenatal diagnosis	20453657	CNVD
Prader-willi syndrome	17867985	CNVD
Angelman syndrome	21072004	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prader-willi syndrome	18781185	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Schizophrenia	19197363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Angelman syndrome	18787571	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Abnormal corpus callosum	21572526	CNVD
Autism	20531469	CNVD
Neuropsychiatric disorder	20506139	CNVD
Austim spectrum disorder	21302340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Mental retardation	17124404	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	19843651	CNVD
Schizophrenia	19843651	CNVD
Schizophrenia	23813976	CNVD
Cognitive impairment	21505072	CNVD
Epilepsy	20502679	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495309	CNVD
Schizophrenia	20388499	CNVD
Autism	20841430	CNVD
Epilepsy	22499536	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21956041	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Autism	21269290	CNVD
Intellectual disability	21269290	CNVD
Schizophrenia	21269290	CNVD
Colorectal cancer	21128281	CNVD
Epilepsy	19289393	CNVD
Epilepsy	20643615	CNVD
Mental retardation	19289393	CNVD
Mental retardation	20152051	CNVD
Schizophrenia	19289393	CNVD
dysmorphic features	19289393	CNVD
idiopathic epilepsies	19341504	CNVD
idiopathic generalized epilepsy	19592580	CNVD
idiopathic generalized epilepsy	19136953	CNVD
Autism	22094647	CNVD
Developmental delay	19898479	CNVD
Mental retardation	18278044	CNVD
Mental retardation	19898479	CNVD
Prader-willi syndrome	18854863	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:29928000-29938000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:29938000-29938800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:29938800-29943600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:29943600-29943800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr15:29943600-29945200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:29943800-29945400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:29944800-29945400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr15:29945200-29948600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:29945400-29948600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:29948000-29948200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:29948000-29948800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr15:29948600-29948800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr15:29948600-29948800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:29948600-29948800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:29948600-29949000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr15:29948600-29949200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr15:29948600-29949800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr15:29948800-29949000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr15:29948800-29949000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr15:29948800-29949000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr15:29948800-29949000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr15:29948800-29949000	Enhancers	K562	blood
23	chr15:29948800-29949200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
24	chr15:29948800-29949200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
25	chr15:29948800-29949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr15:29948800-29949600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr15:29949000-29949200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:29949000-29949200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
29	chr15:29949000-29949200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr15:29949000-29949200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr15:29949000-29949200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
32	chr15:29949000-29949200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
33	chr15:29949000-29949200	Flanking Active TSS	K562	blood
34	chr15:29949000-29949600	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr15:29949000-29949600	Enhancers	Placenta	Placenta
36	chr15:29949000-29949600	Active TSS	A549	lung
37	chr15:29949200-29949400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr15:29949200-29949400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr15:29949200-29949600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:29949200-29949600	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr15:29949200-29949600	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr15:29949200-29949600	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr15:29949200-29949600	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr15:29949200-29949600	ZNF genes & repeats	Lung	lung
45	chr15:29949200-29949600	Active TSS	K562	blood
46	chr15:29949200-29949800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr15:29949200-29949800	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr15:29949400-29949600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
49	chr15:29949400-29949600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr15:29949400-29949800	Active TSS	HSMM	muscle

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