Variant report

Variant	nsv946233
Chromosome Location	chr1:144474467-144488682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr1:144482920-144483117	K562	blood:	n/a	n/a
2	CTCF	chr1:144478486-144478548	LNCaP	prostate:	n/a	n/a
3	CTCF	chr1:144478358-144478473	GM20000	blood:	n/a	n/a
4	CTCF	chr1:144479623-144479656	LNCaP	prostate:	n/a	n/a
5	CTCF	chr1:144481784-144481809	GM20000	blood:	n/a	n/a
6	CTCF	chr1:144481249-144481566	A549	lung:	n/a	n/a
7	CTCF	chr1:144481113-144481156	GM10248	blood:	n/a	n/a
8	CTCF	chr1:144482816-144482916	LNCaP	prostate:	n/a	n/a
9	CTCF	chr1:144484631-144484668	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr1:144475434-144475498	GM10248	blood:	n/a	n/a
11	CTCF	chr1:144476472-144476541	Medullo	brain:	n/a	n/a
12	CTCF	chr1:144481717-144481784	LNCaP	prostate:	n/a	n/a
13	CTCF	chr1:144483423-144483481	Medullo	brain:	n/a	n/a
14	EBF1	chr1:144481256-144481636	GM12878	blood:	n/a	n/a
15	GABPA	chr1:144482736-144482944	Hela-S3	cervix:	n/a	n/a
16	GATA2	chr1:144482755-144483243	K562	blood:	n/a	n/a
17	GATA2	chr1:144483266-144483504	K562	blood:	n/a	n/a
18	PAX5	chr1:144482260-144482552	GM12878	blood:	n/a	n/a
19	PAX5	chr1:144482292-144482569	GM12878	blood:	n/a	n/a
20	PBX3	chr1:144483281-144483429	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:144481197-144481853	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:144477911-144478121	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr1:144481297-144481550	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:144481987-144482160	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr1:144481601-144481909	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr1:144482755-144483022	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr1:144481321-144481875	A549	lung:	n/a	n/a
28	POLR2A	chr1:144481069-144482254	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr1:144481570-144481824	A549	lung:	n/a	n/a
30	POLR2A	chr1:144480996-144481237	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr1:144488533-144488999	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr1:144481610-144481804	A549	lung:	n/a	n/a
33	POLR2A	chr1:144481330-144481544	GM12878	blood:	n/a	n/a
34	POLR2A	chr1:144481259-144481911	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr1:144481283-144481854	A549	lung:	n/a	n/a
36	POLR2A	chr1:144481329-144481545	A549	lung:	n/a	n/a
37	POLR2A	chr1:144481076-144481910	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr1:144481318-144481559	Hela-S3	cervix:	n/a	n/a
39	POU2F2	chr1:144482510-144482837	GM12878	blood:	n/a	n/a
40	POU2F2	chr1:144482242-144482499	GM12878	blood:	n/a	n/a
41	POU2F2	chr1:144482016-144482134	GM12878	blood:	n/a	n/a
42	POU2F2	chr1:144482845-144482969	GM12878	blood:	n/a	n/a
43	SIX5	chr1:144482699-144483058	K562	blood:	n/a	n/a
44	SPI1	chr1:144482899-144483047	K562	blood:	n/a	n/a
45	SRF	chr1:144481337-144481516	GM12878	blood:	n/a	n/a
46	TAF1	chr1:144481262-144481902	H1-hESC	embryonic stem cell:	n/a	n/a
47	TAF1	chr1:144480950-144482013	H1-hESC	embryonic stem cell:	n/a	n/a
48	USF1	chr1:144482020-144482146	HepG2	liver:	n/a	n/a
49	ZBTB33	chr1:144482308-144482763	K562	blood:	n/a	n/a
50	ZBTB33	chr1:144482799-144483166	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144481939-144481989	NH-A	brain:	n/a
2	chr1:144479586-144479636	SKMC	muscle:	n/a
3	chr1:144481939-144481989	HPAEpiC	pulmonary alveolar:	n/a
4	chr1:144485590-144485640	AG04449	skin:	fetal
5	chr1:144485590-144485640	HIPEpiC	eye:	n/a
6	chr1:144485590-144485640	HNPCEpiC	eye:	n/a
7	chr1:144479586-144479636	NHBE	bronchial:	n/a
8	chr1:144479586-144479636	LNCaP	prostate:	n/a
9	chr1:144479586-144479636	SK-N-MC	brain:	n/a
10	chr1:144485590-144485640	ProgFib	skin:	n/a
11	chr1:144479586-144479636	PrEC	prostate:	n/a
12	chr1:144485590-144485640	AG10803	skin:	n/a
13	chr1:144485590-144485640	AG09319	gingival:	n/a
14	chr1:144481939-144481989	MCF10A-Er-Src	breast:	n/a
15	chr1:144485590-144485640	Hela-S3	cervix:	n/a
16	chr1:144485590-144485640	Hepatocyte	liver:	n/a
17	chr1:144479586-144479636	IMR90	lung:	fetal
18	chr1:144481939-144481989	NHDF-neo	bronchial:	n/a
19	chr1:144485590-144485640	SKMC	muscle:	n/a
20	chr1:144485590-144485640	CMK	blood:	n/a
21	chr1:144481939-144481989	BE2_C	brain:	n/a
22	chr1:144485590-144485640	HRE	kidney:	n/a
23	chr1:144481939-144481989	GM06990	blood:	n/a
24	chr1:144485590-144485640	MCF-7	breast:	n/a
25	chr1:144485590-144485640	NHBE	bronchial:	n/a
26	chr1:144479586-144479636	HCT-116	colon:	n/a
27	chr1:144479586-144479636	HRE	kidney:	n/a
28	chr1:144481939-144481989	AG10803	skin:	n/a
29	chr1:144485590-144485640	BJ	skin:	n/a
30	chr1:144481939-144481989	ProgFib	skin:	n/a
31	chr1:144479586-144479636	GM06990	blood:	n/a
32	chr1:144485590-144485640	HCF	heart:	n/a
33	chr1:144485590-144485640	HEK293	kidney:	embryo
34	chr1:144479586-144479636	HIPEpiC	eye:	n/a
35	chr1:144481939-144481989	GM19239	blood:	n/a
36	chr1:144485590-144485640	U87	brain:	n/a
37	chr1:144481939-144481989	PANC-1	pancreas:	n/a
38	chr1:144481939-144481989	AoSMC	blood vessel:	n/a
39	chr1:144479586-144479636	HL-60	blood:	n/a
40	chr1:144481939-144481989	NT2-D1	testis:	n/a
41	chr1:144479586-144479636	BJ	skin:	n/a
42	chr1:144481939-144481989	MCF-7	breast:	n/a
43	chr1:144485590-144485640	NB4	blood:	n/a
44	chr1:144481939-144481989	H1-hESC	embryonic stem cell:	embryo
45	chr1:144479586-144479636	MCF10A-Er-Src	breast:	n/a
46	chr1:144479586-144479636	A549	lung:	n/a
47	chr1:144481939-144481989	SK-N-SH_RA	brain:	n/a
48	chr1:144479586-144479636	Hela-S3	cervix:	n/a
49	chr1:144479586-144479636	HCPEpiC	choroid plexus:	n/a
50	chr1:144485590-144485640	K562	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIAL4B-5	chr1:144475088-144475533	predAs_chen_AA985444_1
2	lnc-PPIAL4B-2	chr1:144480746-144480984	NONHSAT005803
3	lnc-PPIAL4B-2	chr1:144480744-144481765	ENSG00000236943.1
4	lnc-PPIAL4B-2	chr1:144480741-144480984	ENSG00000236943.1
5	lnc-PPIAL4B-2	chr1:144481627-144481765	ENSG00000236943.1
6	lnc-PPIAL4B-2	chr1:144481419-144481765	ENSG00000236943.1
7	lnc-PPIAL4B-2	chr1:144481419-144481765	NONHSAT005803

No data

Variant related genes	Relation type
ENSG00000236943	TF binding region
ENSG00000236943	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 164 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587595647	chr1:144475210-144475211	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs370609531	chr1:144475230-144475231	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs587670252	chr1:144475239-144475240	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs371232376	chr1:144475420-144475421	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs587699441	chr1:144475437-144475438	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs376158718	chr1:144475474-144475475	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs200465849	chr1:144480794-144480795	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs376417394	chr1:144481110-144481111	Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs587775534	chr1:144481182-144481183	Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs116180770	chr1:144481200-144481201	Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	mRNA abundance
11	rs587662116	chr1:144481219-144481220	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs587719553	chr1:144481233-144481234	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs139706301	chr1:144481235-144481236	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs200307645	chr1:144483423-144483424	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs187648996	chr1:144485616-144485617	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:164)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Williams Syndrome	20824207	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144481000-144481200	ZNF genes & repeats	Lung	lung
2	chr1:144481000-144481400	Active TSS	H1 Cell Line	embryonic stem cell
3	chr1:144481000-144481400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr1:144481000-144481400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:144481000-144481400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:144481000-144481400	Active TSS	Primary T cells fromperipheralblood	blood
7	chr1:144481000-144481400	Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr1:144481000-144481400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:144481000-144481400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:144481000-144481400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:144481000-144481400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:144481000-144481400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:144481000-144481400	Active TSS	Brain Germinal Matrix	brain
14	chr1:144481000-144481400	Active TSS	Fetal Brain Female	brain
15	chr1:144481000-144481400	Active TSS	Fetal Intestine Small	intestine
16	chr1:144481000-144481400	Active TSS	Thymus	Thymus
17	chr1:144481000-144481400	Active TSS	Monocytes-CD14+_RO01746	blood

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