Variant report

Variant	nsv591401
Chromosome Location	chr3:121094592-121160369
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:121134688..121138349-chr3:121139086..121141700,5	K562	blood:
2	chr3:121152758..121154352-chr3:121155971..121158501,2	MCF-7	breast:
3	chr3:121152541..121155166-chr3:121158856..121160501,2	K562	blood:
4	chr3:121122561..121125182-chr3:121127949..121129748,3	K562	blood:
5	chr3:121129952..121132930-chr3:121134868..121138546,3	K562	blood:
6	chr3:121135285..121138210-chr3:121139443..121141521,3	K562	blood:
7	chr3:121129952..121132930-chr3:121134868..121138546,3	K562	blood:
8	chr20:17868453..17869206-chr3:121103732..121104423,2	MCF-7	breast:
9	chr3:121134688..121138349-chr3:121139086..121141700,5	K562	blood:
10	chr3:121125400..121127225-chr3:121128769..121131952,3	K562	blood:
11	chr3:121121830..121124199-chr3:121125934..121129748,5	K562	blood:
12	chr3:121122561..121125182-chr3:121127949..121129748,3	K562	blood:
13	chr3:121152541..121155166-chr3:121158856..121160501,2	K562	blood:
14	chr3:121125400..121127225-chr3:121128769..121131952,3	K562	blood:
15	chr3:121135285..121138210-chr3:121139443..121141521,3	K562	blood:
16	chr3:121150437..121151324-chr3:121212003..121212905,2	MCF-7	breast:
17	chr3:121152758..121154352-chr3:121155971..121158501,2	MCF-7	breast:
18	chr3:121158690..121160312-chr3:121166384..121168910,2	K562	blood:
19	chr3:121121830..121124199-chr3:121125934..121129748,5	K562	blood:
20	chr3:121143314..121145833-chr3:121149976..121152815,2	MCF-7	breast:
21	chr3:121138259..121140292-chr3:121185745..121188174,2	K562	blood:
22	chr3:121143314..121145833-chr3:121149976..121152815,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233625	chromatin interactions

Extended variants
information (count: 2367 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2367 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12494335	chr3:121094592-121094593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192481040	chr3:121094600-121094601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572060032	chr3:121094659-121094660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551253960	chr3:121094663-121094664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567804420	chr3:121094694-121094695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375259999	chr3:121094738-121094739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536839153	chr3:121094763-121094764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548834983	chr3:121094770-121094771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541341768	chr3:121094837-121094838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149791309	chr3:121094897-121094898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534381939	chr3:121094898-121094899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557342780	chr3:121094927-121094928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577213117	chr3:121094929-121094930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536986462	chr3:121094935-121094936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6772711	chr3:121094948-121094949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185813474	chr3:121095069-121095070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542828070	chr3:121095107-121095108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79987651	chr3:121095127-121095128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573383059	chr3:121095143-121095144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75365014	chr3:121095155-121095156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189894443	chr3:121095173-121095174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549545934	chr3:121095227-121095228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543707102	chr3:121095233-121095234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61796941	chr3:121095261-121095262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143528801	chr3:121095278-121095279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375206841	chr3:121095291-121095292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115403508	chr3:121095297-121095298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369610295	chr3:121095298-121095299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551411504	chr3:121095305-121095306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146756166	chr3:121095316-121095317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571282831	chr3:121095325-121095326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182058865	chr3:121095340-121095341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140371128	chr3:121095379-121095380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143556642	chr3:121095414-121095415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551049620	chr3:121095437-121095438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570943200	chr3:121095467-121095468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567591686	chr3:121095482-121095483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150976076	chr3:121095581-121095582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112921259	chr3:121095603-121095604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13069795	chr3:121095636-121095637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs536116402	chr3:121095642-121095643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201600592	chr3:121095675-121095676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573072054	chr3:121095719-121095720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140790896	chr3:121095748-121095749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189878457	chr3:121095754-121095755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150109526	chr3:121095791-121095792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575738474	chr3:121095817-121095818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111513453	chr3:121095857-121095858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533839002	chr3:121095869-121095870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544617679	chr3:121095877-121095878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	17953491	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121088200-121099000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:121093000-121117000	Weak transcription	Ovary	ovary
3	chr3:121099200-121099400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:121099400-121099800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:121099400-121102800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:121099800-121101800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:121102800-121103000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:121116800-121118000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr3:121117000-121117400	Enhancers	Ovary	ovary
10	chr3:121117000-121117400	Enhancers	HUVEC	blood vessel
11	chr3:121117200-121117600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:121117400-121139400	Weak transcription	Ovary	ovary
13	chr3:121129000-121129200	Enhancers	GM12878-XiMat	blood
14	chr3:121129200-121148800	Weak transcription	GM12878-XiMat	blood
15	chr3:121130400-121130800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:121130400-121130800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:121130400-121130800	Enhancers	HUVEC	blood vessel
18	chr3:121134200-121152600	Weak transcription	Hela-S3	cervix
19	chr3:121134400-121134600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:121134600-121146400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:121135400-121141200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:121135800-121139600	Weak transcription	Brain Germinal Matrix	brain
23	chr3:121135800-121148600	Weak transcription	Thymus	Thymus
24	chr3:121135800-121149000	Weak transcription	A549	lung
25	chr3:121137000-121137200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:121137200-121137400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:121137400-121142200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:121137600-121145800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:121137800-121148800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:121139000-121145800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr3:121139200-121150600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:121139200-121186000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:121139400-121147400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr3:121140000-121143600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr3:121140200-121149000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:121140600-121144600	Weak transcription	Dnd41	blood
37	chr3:121140600-121147000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr3:121140600-121150800	Weak transcription	HSMM	muscle
39	chr3:121140600-121170800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:121140800-121148400	Weak transcription	Fetal Thymus	thymus
41	chr3:121140800-121149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:121140800-121150800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr3:121140800-121151400	Weak transcription	HepG2	liver
44	chr3:121141000-121148800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr3:121141200-121141600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:121141200-121186000	Weak transcription	NHEK	skin
47	chr3:121141400-121143000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:121141600-121141800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:121141600-121145200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr3:121141600-121147000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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