Variant report

Variant	nsv870555
Chromosome Location	chr1:94545160-94577744
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:35)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94560214..94561880-chr1:94564179..94567111,2	MCF-7	breast:
2	chr1:94546449..94548986-chr1:94550186..94552023,2	K562	blood:
3	chr1:94528533..94530442-chr1:94567755..94569846,3	MCF-7	breast:
4	chr1:94570013..94571668-chr1:94572393..94574114,2	MCF-7	breast:
5	chr1:94570362..94572497-chr1:94572794..94574672,2	MCF-7	breast:
6	chr1:61547567..61548283-chr1:94576374..94576896,2	MCF-7	breast:
7	chr1:94567418..94570803-chr1:94581520..94584135,4	MCF-7	breast:
8	chr1:94569570..94572395-chr1:94575385..94578285,2	MCF-7	breast:
9	chr1:94546449..94548986-chr1:94550186..94552023,2	K562	blood:
10	chr1:94570362..94572497-chr1:94572794..94574672,2	MCF-7	breast:
11	chr1:94541971..94545495-chr1:94547470..94549927,3	MCF-7	breast:
12	chr1:94556014..94558247-chr1:94558375..94560976,2	MCF-7	breast:
13	chr1:94569733..94572105-chr1:94572652..94574259,3	K562	blood:
14	chr1:94569733..94572105-chr1:94572652..94574259,3	K562	blood:
15	chr1:94556014..94558247-chr1:94558375..94560976,2	MCF-7	breast:
16	chr1:94548149..94550772-chr1:94556316..94558558,2	K562	blood:
17	chr1:94548149..94550772-chr1:94556316..94558558,2	K562	blood:
18	chr1:94570013..94571668-chr1:94572393..94574114,2	MCF-7	breast:
19	chr1:94565667..94567409-chr1:94572169..94573688,2	MCF-7	breast:
20	chr1:94565667..94567409-chr1:94572169..94573688,2	MCF-7	breast:
21	chr1:94573713..94576246-chr1:94579221..94581547,2	MCF-7	breast:
22	chr1:94564366..94567195-chr1:94607779..94609670,2	MCF-7	breast:
23	chr1:94533904..94535691-chr1:94564792..94567232,2	MCF-7	breast:
24	chr1:94571469..94574892-chr1:94577789..94583222,4	K562	blood:
25	chr1:94564934..94567258-chr1:94582385..94584556,2	MCF-7	breast:
26	chr1:94541971..94545495-chr1:94547470..94549927,3	MCF-7	breast:
27	chr1:94567017..94567580-chr1:94583611..94584143,2	MCF-7	breast:
28	chr1:94560214..94561880-chr1:94564179..94567111,2	MCF-7	breast:
29	chr1:94573501..94575707-chr1:94575840..94578707,2	MCF-7	breast:
30	chr1:94561960..94563528-chr1:94582281..94584718,2	MCF-7	breast:
31	chr1:94569570..94572395-chr1:94575385..94578285,2	MCF-7	breast:
32	chr1:94573941..94577939-chr1:94585857..94589392,3	K562	blood:
33	chr1:94573501..94575707-chr1:94575840..94578707,2	MCF-7	breast:
34	chr1:94532586..94535624-chr1:94566931..94569461,4	MCF-7	breast:
35	chr1:94565431..94568158-chr1:94701481..94704374,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP29-3	chr1:94556623-94557051	NONHSAT004569
2	lnc-ARHGAP29-3	chr1:94562551-94562713	NONHSAT004569
3	lnc-ABCD3-7	chr1:94572656-94572992	NONHSAT004570
4	lnc-ABCD3-7	chr1:94571411-94571553	NONHSAT004570

No data

Variant related genes	Relation type
ENSG00000198691	chromatin interactions
ENSG00000137962	chromatin interactions
ENSG00000162599	chromatin interactions

Extended variants
information (count: 1452 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1452 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2275035	chr1:94545160-94545161	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs373271502	chr1:94545182-94545183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17111014	chr1:94545203-94545204	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539893471	chr1:94545293-94545294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370510494	chr1:94545341-94545342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552107972	chr1:94545360-94545361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139125247	chr1:94545361-94545362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75392260	chr1:94545420-94545421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555613938	chr1:94545433-94545434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184005979	chr1:94545441-94545442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188000451	chr1:94545471-94545472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544386754	chr1:94545492-94545493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562492579	chr1:94545495-94545496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111526247	chr1:94545498-94545499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374616902	chr1:94545509-94545510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369397003	chr1:94545549-94545550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34227202	chr1:94545550-94545551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376954831	chr1:94545561-94545562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11330929	chr1:94545562-94545563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562307698	chr1:94545593-94545594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180912714	chr1:94545617-94545618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76189878	chr1:94545646-94545647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4147829	chr1:94545660-94545661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149507653	chr1:94545665-94545666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562395263	chr1:94545672-94545673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367761441	chr1:94545673-94545674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372951810	chr1:94545702-94545703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529508672	chr1:94545735-94545736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370339469	chr1:94545736-94545737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551156651	chr1:94545749-94545750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371147615	chr1:94545790-94545791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553356461	chr1:94545854-94545855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184604507	chr1:94545863-94545864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144085043	chr1:94545868-94545869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551878169	chr1:94545874-94545875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113715659	chr1:94545877-94545878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6682366	chr1:94545911-94545912	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534170231	chr1:94545937-94545938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111298269	chr1:94545946-94545947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75926906	chr1:94545954-94545955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567550752	chr1:94545990-94545991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537704501	chr1:94545991-94545992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148527784	chr1:94545997-94545998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs61752390	chr1:94546047-94546048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375658453	chr1:94546053-94546054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs61751391	chr1:94546067-94546068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577385550	chr1:94546079-94546080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149299493	chr1:94546083-94546084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144575154	chr1:94546085-94546086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369165289	chr1:94546093-94546094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD

Chromatin state (count:806 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94535800-94547000	Weak transcription	NHDF-Ad	bronchial
2	chr1:94536400-94556400	Weak transcription	Right Atrium	heart
3	chr1:94539600-94546800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:94539600-94546800	Weak transcription	Dnd41	blood
5	chr1:94539600-94547000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:94539600-94548600	Weak transcription	Thymus	Thymus
7	chr1:94541600-94550400	Weak transcription	Spleen	Spleen
8	chr1:94543200-94545800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:94543600-94546000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:94543600-94546000	Enhancers	Fetal Kidney	kidney
11	chr1:94543600-94546600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:94543800-94545800	Enhancers	Fetal Muscle Leg	muscle
13	chr1:94543800-94546200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:94543800-94546400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:94544200-94545400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:94544200-94545800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:94544200-94545800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:94544400-94545200	Enhancers	A549	lung
19	chr1:94544400-94545800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:94544400-94545800	Enhancers	Brain Germinal Matrix	brain
21	chr1:94544400-94546000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:94544400-94546000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:94544600-94545200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:94544600-94545800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:94544600-94545800	Enhancers	Fetal Thymus	thymus
26	chr1:94544800-94545200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:94544800-94545200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:94544800-94545200	Enhancers	Brain Anterior Caudate	brain
29	chr1:94544800-94545400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:94544800-94546800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:94545000-94545600	Weak transcription	Brain Angular Gyrus	brain
32	chr1:94545000-94546000	Enhancers	Adipose Nuclei	Adipose
33	chr1:94545000-94546400	Enhancers	HepG2	liver
34	chr1:94545000-94547000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:94545000-94547200	Weak transcription	Lung	lung
36	chr1:94545000-94547200	Weak transcription	HSMMtube	muscle
37	chr1:94545000-94547200	Weak transcription	NHLF	lung
38	chr1:94545000-94549600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:94545200-94545800	Weak transcription	NH-A	brain
40	chr1:94545400-94545600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:94545400-94549200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:94545600-94545800	Enhancers	Brain Angular Gyrus	brain
43	chr1:94545600-94547200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:94545800-94546800	Weak transcription	Fetal Thymus	thymus
45	chr1:94545800-94549200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:94545800-94549400	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:94545800-94554000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:94545800-94557600	Weak transcription	Brain Angular Gyrus	brain
49	chr1:94546000-94547000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:94546000-94549200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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