Variant report

Variant	nsv947324
Chromosome Location	chr1:152648442-152658513
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:152648701-152648755	Spleen_OC	spleen:	n/a	n/a
2	FOS	chr1:152656503-152656535	MCF10A-Er-Src	breast:	n/a	chr1:152656519-152656527 chr1:152656518-152656528
3	POLR2A	chr1:152658485-152658802	A549	lung:	n/a	n/a
4	RCOR1	chr1:152652906-152652979	K562	blood:	n/a	n/a
5	STAT3	chr1:152648817-152649013	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr1:152648832-152649007	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr1:152648864-152649064	MCF10A-Er-Src	breast:	n/a	n/a
8	TAL1	chr1:152650573-152650804	K562	blood:	n/a	chr1:152650598-152650606

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152657950-152658000	PANC-1	pancreas:	n/a
2	chr1:152657198-152657248	K562	blood:	n/a
3	chr1:152657399-152657449	AG09319	gingival:	n/a
4	chr1:152648726-152648776	AG10803	skin:	n/a
5	chr1:152658287-152658337	HCM	heart:	n/a
6	chr1:152657198-152657248	Jurkat	blood:	n/a
7	chr1:152657198-152657248	AG09309	skin:	n/a
8	chr1:152657399-152657449	GM12891	blood:	n/a
9	chr1:152657399-152657449	MCF-7	breast:	n/a
10	chr1:152657950-152658000	ECC-1	luminal epithelium:	n/a
11	chr1:152657399-152657449	HepG2	liver:	n/a
12	chr1:152657399-152657449	HRCEpiC	kidney:	n/a
13	chr1:152657198-152657248	NHBE	bronchial:	n/a
14	chr1:152657950-152658000	NHDF-neo	bronchial:	n/a
15	chr1:152658287-152658337	HIPEpiC	eye:	n/a
16	chr1:152657198-152657248	H1-hESC	embryonic stem cell:	embryo
17	chr1:152657950-152658000	AoSMC	blood vessel:	n/a
18	chr1:152657399-152657449	GM06990	blood:	n/a
19	chr1:152657399-152657449	AG04450	lung:	fetal
20	chr1:152648726-152648776	AG04449	skin:	fetal
21	chr1:152648726-152648776	ovcar-3	ovarian:	n/a
22	chr1:152658287-152658337	HAEpiC	amniotic membrane:	n/a
23	chr1:152657950-152658000	Hepatocyte	liver:	n/a
24	chr1:152657950-152658000	AG04450	lung:	fetal
25	chr1:152658407-152658457	LNCaP	prostate:	n/a
26	chr1:152657399-152657449	ProgFib	skin:	n/a
27	chr1:152657198-152657248	HAEpiC	amniotic membrane:	n/a
28	chr1:152657399-152657449	HCF	heart:	n/a
29	chr1:152658407-152658457	ProgFib	skin:	n/a
30	chr1:152648726-152648776	HRPEpiC	eye:	n/a
31	chr1:152658407-152658457	GM19239	blood:	n/a
32	chr1:152658287-152658337	HNPCEpiC	eye:	n/a
33	chr1:152658407-152658457	SK-N-SH	brain:	n/a
34	chr1:152657950-152658000	HAEpiC	amniotic membrane:	n/a
35	chr1:152657399-152657449	Caco-2	colon:	n/a
36	chr1:152657198-152657248	AG10803	skin:	n/a
37	chr1:152658287-152658337	NHBE	bronchial:	n/a
38	chr1:152658287-152658337	NH-A	brain:	n/a
39	chr1:152658407-152658457	HMEC	breast:	n/a
40	chr1:152657950-152658000	AG10803	skin:	n/a
41	chr1:152657950-152658000	HRCEpiC	kidney:	n/a
42	chr1:152658287-152658337	H1-hESC	embryonic stem cell:	embryo
43	chr1:152657950-152658000	BJ	skin:	n/a
44	chr1:152657950-152658000	IMR90	lung:	fetal
45	chr1:152658287-152658337	Hela-S3	cervix:	n/a
46	chr1:152657198-152657248	GM12891	blood:	n/a
47	chr1:152648726-152648776	Jurkat	blood:	n/a
48	chr1:152657198-152657248	HRPEpiC	eye:	n/a
49	chr1:152658287-152658337	IMR90	lung:	fetal
50	chr1:152658287-152658337	NT2-D1	testis:	n/a

No data

Variant related genes	Relation type
LCE2B	TF binding region
LCE2B	CpG island

Extended variants
information (count: 210 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201111748	chr1:152648443-152648444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149614813	chr1:152648462-152648463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373969885	chr1:152648468-152648469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546522535	chr1:152648484-152648485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144044997	chr1:152648490-152648491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12073860	chr1:152648491-152648492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573157957	chr1:152648501-152648502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375637333	chr1:152648515-152648516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149738089	chr1:152648521-152648522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370080975	chr1:152648524-152648525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199844975	chr1:152648527-152648528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200214001	chr1:152648548-152648549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561716750	chr1:152648576-152648577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4119578	chr1:152648581-152648582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4119577	chr1:152648587-152648588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531060384	chr1:152648592-152648593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4119576	chr1:152648593-152648594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143679302	chr1:152648594-152648595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373855134	chr1:152648599-152648600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550783306	chr1:152648613-152648614	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs142388668	chr1:152648619-152648620	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs76844826	chr1:152648643-152648644	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs146579685	chr1:152648650-152648651	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs74477310	chr1:152648651-152648652	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs150478080	chr1:152648677-152648678	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs200818973	chr1:152648685-152648686	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs532981379	chr1:152648693-152648694	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs41305072	chr1:152648706-152648707	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs12074920	chr1:152648707-152648708	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs146169820	chr1:152648724-152648725	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs535714518	chr1:152648726-152648727	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs199701090	chr1:152648727-152648728	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs12064325	chr1:152648739-152648740	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139907033	chr1:152648758-152648759	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs201281384	chr1:152648759-152648760	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs373454559	chr1:152648761-152648762	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs200801335	chr1:152648766-152648767	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs199924989	chr1:152648777-152648778	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs139225775	chr1:152648783-152648784	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs371378636	chr1:152648787-152648788	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs149959514	chr1:152648788-152648789	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs373720601	chr1:152648804-152648805	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs374512784	chr1:152648848-152648849	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs377446144	chr1:152648853-152648854	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs368735730	chr1:152648859-152648860	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs370841976	chr1:152648863-152648864	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs375022910	chr1:152648873-152648874	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs199779088	chr1:152648874-152648875	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs559100921	chr1:152648892-152648893	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs74685751	chr1:152648932-152648933	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
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
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
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
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152646200-152649000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:152648600-152649000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr1:152649000-152649400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:152649000-152649400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:152652800-152654400	Enhancers	Fetal Brain Male	brain
6	chr1:152654800-152655000	Enhancers	Fetal Brain Male	brain
7	chr1:152656200-152656800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:152656200-152657000	Enhancers	NHDF-Ad	bronchial

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