Variant report

Variant	nsv946190
Chromosome Location	chr1:120614744-120617494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr1:120614173-120614875	HepG2	liver:	n/a	n/a
2	PBX3	chr1:120615960-120616097	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:120615310-120615467	MCF10A-Er-Src	breast:	n/a	n/a
4	SIN3AK20	chr1:120617314-120617417	HepG2	liver:	n/a	n/a
5	SIX5	chr1:120615465-120615722	GM12878	blood:	n/a	n/a
6	ZBTB33	chr1:120617147-120617399	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:120616221-120616271	Jurkat	blood:	n/a
2	chr1:120616221-120616271	LNCaP	prostate:	n/a
3	chr1:120616221-120616271	HAEpiC	amniotic membrane:	n/a
4	chr1:120616221-120616271	T-47D	breast:	n/a
5	chr1:120616221-120616271	HepG2	liver:	n/a
6	chr1:120616221-120616271	AG04449	skin:	fetal
7	chr1:120616221-120616271	BJ	skin:	n/a
8	chr1:120616221-120616271	HCT-116	colon:	n/a
9	chr1:120616221-120616271	HCPEpiC	choroid plexus:	n/a
10	chr1:120616221-120616271	HRE	kidney:	n/a
11	chr1:120616221-120616271	SK-N-SH	brain:	n/a
12	chr1:120616221-120616271	Caco-2	colon:	n/a
13	chr1:120616221-120616271	GM19239	blood:	n/a
14	chr1:120616221-120616271	AG09309	skin:	n/a
15	chr1:120616221-120616271	NHBE	bronchial:	n/a
16	chr1:120616221-120616271	BE2_C	brain:	n/a
17	chr1:120616221-120616271	HCF	heart:	n/a
18	chr1:120616221-120616271	GM12891	blood:	n/a
19	chr1:120616221-120616271	NT2-D1	testis:	n/a
20	chr1:120616221-120616271	HNPCEpiC	eye:	n/a
21	chr1:120616221-120616271	K562	blood:	n/a
22	chr1:120616221-120616271	HMEC	breast:	n/a
23	chr1:120616221-120616271	NHDF-neo	bronchial:	n/a
24	chr1:120616221-120616271	MCF10A-Er-Src	breast:	n/a
25	chr1:120616221-120616271	GM06990	blood:	n/a
26	chr1:120616221-120616271	Hela-S3	cervix:	n/a
27	chr1:120616221-120616271	PrEC	prostate:	n/a
28	chr1:120616221-120616271	PFSK-1	brain:	n/a
29	chr1:120616221-120616271	HCM	heart:	n/a
30	chr1:120616221-120616271	NB4	blood:	n/a
31	chr1:120616221-120616271	HEEpiC	esophagus:	n/a
32	chr1:120616221-120616271	H1-hESC	embryonic stem cell:	embryo
33	chr1:120616221-120616271	SAEC	small airway:	n/a
34	chr1:120616221-120616271	GM12878	blood:	n/a
35	chr1:120616221-120616271	PANC-1	pancreas:	n/a
36	chr1:120616221-120616271	HL-60	blood:	n/a
37	chr1:120616221-120616271	ECC-1	luminal epithelium:	n/a
38	chr1:120616221-120616271	AG10803	skin:	n/a
39	chr1:120616221-120616271	A549	lung:	n/a
40	chr1:120616221-120616271	NH-A	brain:	n/a
41	chr1:120616221-120616271	AG04450	lung:	fetal
42	chr1:120616221-120616271	CMK	blood:	n/a
43	chr1:120616221-120616271	Hepatocyte	liver:	n/a
44	chr1:120616221-120616271	HPAEpiC	pulmonary alveolar:	n/a
45	chr1:120616221-120616271	HRCEpiC	kidney:	n/a
46	chr1:120616221-120616271	MCF-7	breast:	n/a
47	chr1:120616221-120616271	ovcar-3	ovarian:	n/a
48	chr1:120616221-120616271	HRPEpiC	eye:	n/a
49	chr1:120616221-120616271	HEK293	kidney:	embryo
50	chr1:120616221-120616271	AG09319	gingival:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NOTCH2-2	chr1:120615908-120616134	XLOC_000986

No data

Variant related genes	Relation type
NOTCH2	TF binding region
ENSG00000273406	TF binding region
NOTCH2	CpG island
ENSG00000273406	CpG island

Extended variants
information (count: 129 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587683550	chr1:120614750-120614751	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs61790282	chr1:120614814-120614815	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs587767501	chr1:120614819-120614820	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs61790283	chr1:120614834-120614835	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs587641006	chr1:120614836-120614837	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs587696089	chr1:120614840-120614841	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs2799259	chr1:120614885-120614886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587755497	chr1:120614916-120614917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587636969	chr1:120614926-120614927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370183351	chr1:120614958-120614959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200919391	chr1:120615100-120615101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587722954	chr1:120615131-120615132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587598086	chr1:120615176-120615177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61790284	chr1:120615178-120615179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587654404	chr1:120615273-120615274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587735594	chr1:120615359-120615360	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs587633363	chr1:120615362-120615363	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs587687005	chr1:120615398-120615399	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs587768238	chr1:120615454-120615455	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs587594382	chr1:120615458-120615459	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs1055809	chr1:120615459-120615460	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs587665634	chr1:120615460-120615461	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs3978637	chr1:120615469-120615470	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs569290078	chr1:120615475-120615476	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs377499389	chr1:120615494-120615495	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs61127354	chr1:120615515-120615516	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs142733471	chr1:120615524-120615525	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs587618599	chr1:120615547-120615548	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs57376720	chr1:120615550-120615551	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs12091247	chr1:120615596-120615597	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1164032	chr1:120615600-120615601	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs2799261	chr1:120615603-120615604	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs60516750	chr1:120615627-120615628	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs12091287	chr1:120615635-120615636	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs587743156	chr1:120615653-120615654	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs587616182	chr1:120615692-120615693	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs111431085	chr1:120615699-120615700	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs113573424	chr1:120615700-120615701	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs587696192	chr1:120615717-120615718	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs587762875	chr1:120615760-120615761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587621678	chr1:120615768-120615769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587693280	chr1:120615782-120615783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587755165	chr1:120615789-120615790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1164033	chr1:120615792-120615793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587651243	chr1:120615793-120615794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587735730	chr1:120615811-120615812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587775703	chr1:120615835-120615836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587657982	chr1:120615855-120615856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587738005	chr1:120615858-120615859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1164034	chr1:120615874-120615875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Wilms tumour	21544195	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
Glioblastoma multiforme	21080181	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Aetanephric adenomas	20802469	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120612200-120617400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:120612400-120615800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:120612400-120617400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:120612400-120624000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:120612400-120624200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:120612400-120624200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:120612400-120624200	Weak transcription	Osteobl	bone
8	chr1:120612400-120627800	Weak transcription	Primary B cells from cord blood	blood
9	chr1:120613600-120617400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:120613600-120619000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:120614000-120619400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr1:120614000-120619600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:120615200-120617400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:120615800-120617600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr1:120617400-120618000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:120617400-120618200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:120617400-120618200	Enhancers	Muscle Satellite Cultured Cells	--

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