Variant report

Variant	esv3335832
Chromosome Location	chr1:152647330-152658158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:367)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:152647617-152647851	HepG2	liver:	n/a	chr1:152647675-152647686 chr1:152647676-152647687
2	CTCF	chr1:152648701-152648755	Spleen_OC	spleen:	n/a	n/a
3	FOS	chr1:152656503-152656535	MCF10A-Er-Src	breast:	n/a	chr1:152656519-152656527 chr1:152656518-152656528
4	POLR2A	chr1:152647853-152647877	MCF-7	breast:	n/a	n/a
5	RCOR1	chr1:152652906-152652979	K562	blood:	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	STAT3	chr1:152648817-152649013	MCF10A-Er-Src	breast:	n/a	n/a
9	TAL1	chr1:152650573-152650804	K562	blood:	n/a	chr1:152650598-152650606

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152657198-152657248	HAEpiC	amniotic membrane:	n/a
2	chr1:152657198-152657248	HAEpiC	amniotic membrane:	n/a
3	chr1:152657950-152658000	HUVEC	blood vessel:	n/a
4	chr1:152647793-152647843	IMR90	lung:	fetal
5	chr1:152648726-152648776	PrEC	prostate:	n/a
6	chr1:152647793-152647843	Hepatocyte	liver:	n/a
7	chr1:152657198-152657248	U87	brain:	n/a
8	chr1:152647777-152647827	HL-60	blood:	n/a
9	chr1:152657399-152657449	AG04449	skin:	fetal
10	chr1:152648726-152648776	SAEC	small airway:	n/a
11	chr1:152648726-152648776	HepG2	liver:	n/a
12	chr1:152647777-152647827	HepG2	liver:	n/a
13	chr1:152657399-152657449	AG09309	skin:	n/a
14	chr1:152657399-152657449	HCT-116	colon:	n/a
15	chr1:152657198-152657248	PFSK-1	brain:	n/a
16	chr1:152657399-152657449	SKMC	muscle:	n/a
17	chr1:152657399-152657449	AG10803	skin:	n/a
18	chr1:152647793-152647843	MCF-7	breast:	n/a
19	chr1:152657399-152657449	SK-N-MC	brain:	n/a
20	chr1:152657399-152657449	NB4	blood:	n/a
21	chr1:152647793-152647843	HCT-116	colon:	n/a
22	chr1:152657198-152657248	AG09309	skin:	n/a
23	chr1:152657198-152657248	Jurkat	blood:	n/a
24	chr1:152657950-152658000	PFSK-1	brain:	n/a
25	chr1:152647793-152647843	Caco-2	colon:	n/a
26	chr1:152657399-152657449	IMR90	lung:	fetal
27	chr1:152647777-152647827	BE2_C	brain:	n/a
28	chr1:152657950-152658000	AG04450	lung:	fetal
29	chr1:152657198-152657248	A549	lung:	n/a
30	chr1:152648726-152648776	HCPEpiC	choroid plexus:	n/a
31	chr1:152657198-152657248	AG10803	skin:	n/a
32	chr1:152657950-152658000	PANC-1	pancreas:	n/a
33	chr1:152647777-152647827	RPTEC	kidney:	n/a
34	chr1:152647793-152647843	NT2-D1	testis:	n/a
35	chr1:152657399-152657449	SK-N-SH	brain:	n/a
36	chr1:152657950-152658000	AG09309	skin:	n/a
37	chr1:152647793-152647843	LNCaP	prostate:	n/a
38	chr1:152647777-152647827	SK-N-MC	brain:	n/a
39	chr1:152647777-152647827	HRE	kidney:	n/a
40	chr1:152647777-152647827	SAEC	small airway:	n/a
41	chr1:152647777-152647827	Hepatocyte	liver:	n/a
42	chr1:152647793-152647843	HEK293	kidney:	embryo
43	chr1:152657399-152657449	HRPEpiC	eye:	n/a
44	chr1:152657399-152657449	HCM	heart:	n/a
45	chr1:152657950-152658000	SK-N-SH	brain:	n/a
46	chr1:152657399-152657449	PFSK-1	brain:	n/a
47	chr1:152657198-152657248	HEEpiC	esophagus:	n/a
48	chr1:152657198-152657248	GM19239	blood:	n/a
49	chr1:152657950-152658000	SKMC	muscle:	n/a
50	chr1:152647793-152647843	AoSMC	blood vessel:	n/a

No data

Variant related genes	Relation type
LCE2C	TF binding region
LCE2B	TF binding region
LCE2C	CpG island
LCE2B	CpG island

Extended variants
information (count: 252 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12057991	chr1:152647332-152647333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112698720	chr1:152647398-152647399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112490088	chr1:152647413-152647414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146737210	chr1:152647425-152647426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577014242	chr1:152647458-152647459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113819835	chr1:152647498-152647499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552657852	chr1:152647502-152647503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191065693	chr1:152647514-152647515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182729271	chr1:152647521-152647522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186629636	chr1:152647535-152647536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530311434	chr1:152647550-152647551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1930126	chr1:152647579-152647580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564012291	chr1:152647586-152647587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191435238	chr1:152647601-152647602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4083761	chr1:152647668-152647669	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs4083760	chr1:152647669-152647670	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs376285259	chr1:152647724-152647725	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs142601755	chr1:152647730-152647731	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs369182797	chr1:152647751-152647752	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs150958579	chr1:152647778-152647779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143331720	chr1:152647789-152647790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11205069	chr1:152647790-152647791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567960140	chr1:152647797-152647798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536848453	chr1:152647856-152647857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184881980	chr1:152647890-152647891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4083759	chr1:152647912-152647913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140756365	chr1:152647927-152647928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4083758	chr1:152647928-152647929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11205070	chr1:152647952-152647953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150099959	chr1:152647962-152647963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188919173	chr1:152647963-152647964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555502255	chr1:152647979-152647980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193066096	chr1:152647998-152647999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185061483	chr1:152647999-152648000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563698182	chr1:152648008-152648009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532863610	chr1:152648045-152648046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546162901	chr1:152648046-152648047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11205071	chr1:152648100-152648101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs141893604	chr1:152648130-152648131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147118131	chr1:152648135-152648136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201453548	chr1:152648145-152648146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568221346	chr1:152648166-152648167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530872302	chr1:152648172-152648173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550771963	chr1:152648180-152648181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570530115	chr1:152648216-152648217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539757442	chr1:152648230-152648231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552984799	chr1:152648242-152648243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566522220	chr1:152648244-152648245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535448494	chr1:152648254-152648255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74129694	chr1:152648285-152648286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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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