Variant report

Variant	esv20569
Chromosome Location	chr1:152648867-152660425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:489)
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	CTCF	chr1:152658637-152658702	MCF-7	breast:	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	POLR2A	chr1:152658726-152658797	Gliobla	brain:	n/a	n/a
5	RCOR1	chr1:152652906-152652979	K562	blood:	n/a	n/a
6	STAT3	chr1:152648817-152649013	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr1:152648832-152649007	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr1:152648864-152649064	MCF10A-Er-Src	breast:	n/a	n/a
9	TAL1	chr1:152650573-152650804	K562	blood:	n/a	chr1:152650598-152650606

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152658797-152658847	MCF10A-Er-Src	breast:	n/a
2	chr1:152658797-152658847	MCF10A-Er-Src	breast:	n/a
3	chr1:152657950-152658000	SK-N-SH_RA	brain:	n/a
4	chr1:152657399-152657449	HIPEpiC	eye:	n/a
5	chr1:152657198-152657248	AG04449	skin:	fetal
6	chr1:152658407-152658457	NB4	blood:	n/a
7	chr1:152657950-152658000	GM19239	blood:	n/a
8	chr1:152659754-152659804	HEK293	kidney:	embryo
9	chr1:152658287-152658337	U87	brain:	n/a
10	chr1:152659554-152659604	PFSK-1	brain:	n/a
11	chr1:152658797-152658847	Jurkat	blood:	n/a
12	chr1:152658287-152658337	HCF	heart:	n/a
13	chr1:152658797-152658847	PrEC	prostate:	n/a
14	chr1:152657399-152657449	SK-N-SH_RA	brain:	n/a
15	chr1:152657198-152657248	PrEC	prostate:	n/a
16	chr1:152658797-152658847	T-47D	breast:	n/a
17	chr1:152658407-152658457	HRE	kidney:	n/a
18	chr1:152659554-152659604	BE2_C	brain:	n/a
19	chr1:152658287-152658337	ovcar-3	ovarian:	n/a
20	chr1:152659754-152659804	AG04449	skin:	fetal
21	chr1:152657950-152658000	HRE	kidney:	n/a
22	chr1:152659754-152659804	HNPCEpiC	eye:	n/a
23	chr1:152658287-152658337	AoSMC	blood vessel:	n/a
24	chr1:152659754-152659804	NB4	blood:	n/a
25	chr1:152658407-152658457	BE2_C	brain:	n/a
26	chr1:152659754-152659804	AG09319	gingival:	n/a
27	chr1:152659754-152659804	ProgFib	skin:	n/a
28	chr1:152658797-152658847	ProgFib	skin:	n/a
29	chr1:152658407-152658457	Hela-S3	cervix:	n/a
30	chr1:152658407-152658457	IMR90	lung:	fetal
31	chr1:152659554-152659604	ProgFib	skin:	n/a
32	chr1:152658797-152658847	Hela-S3	cervix:	n/a
33	chr1:152657950-152658000	Caco-2	colon:	n/a
34	chr1:152659754-152659804	NH-A	brain:	n/a
35	chr1:152658287-152658337	HCPEpiC	choroid plexus:	n/a
36	chr1:152657399-152657449	HMEC	breast:	n/a
37	chr1:152659554-152659604	SAEC	small airway:	n/a
38	chr1:152659754-152659804	PrEC	prostate:	n/a
39	chr1:152657399-152657449	ECC-1	luminal epithelium:	n/a
40	chr1:152659754-152659804	AG10803	skin:	n/a
41	chr1:152657399-152657449	RPTEC	kidney:	n/a
42	chr1:152658287-152658337	AG04450	lung:	fetal
43	chr1:152658287-152658337	IMR90	lung:	fetal
44	chr1:152658797-152658847	SAEC	small airway:	n/a
45	chr1:152659754-152659804	Hela-S3	cervix:	n/a
46	chr1:152657198-152657248	GM12892	blood:	n/a
47	chr1:152657950-152658000	NB4	blood:	n/a
48	chr1:152659554-152659604	SKMC	muscle:	n/a
49	chr1:152657198-152657248	HAEpiC	amniotic membrane:	n/a
50	chr1:152657198-152657248	MCF-7	breast:	n/a

No data

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

Extended variants
information (count: 170 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375022910	chr1:152648873-152648874	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs199779088	chr1:152648874-152648875	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs559100921	chr1:152648892-152648893	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs74685751	chr1:152648932-152648933	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs181063713	chr1:152648942-152648943	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs146311590	chr1:152648945-152648946	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs12060809	chr1:152648950-152648951	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs534111248	chr1:152648971-152648972	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs564429115	chr1:152648976-152648977	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs533427405	chr1:152648993-152648994	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs546832011	chr1:152649023-152649024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560361986	chr1:152649025-152649026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532956520	chr1:152649046-152649047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139502253	chr1:152649050-152649051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184001788	chr1:152649056-152649057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368372153	chr1:152649061-152649062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188151735	chr1:152649084-152649085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1853805	chr1:152649114-152649115	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551315464	chr1:152649131-152649132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1888966	chr1:152649137-152649138	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533612559	chr1:152649138-152649139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199680487	chr1:152649149-152649150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368090864	chr1:152649172-152649173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566706522	chr1:152649193-152649194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144185947	chr1:152649229-152649230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180988478	chr1:152649238-152649239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73011144	chr1:152649263-152649264	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs371692838	chr1:152649294-152649295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544293445	chr1:152649298-152649299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74129696	chr1:152649304-152649305	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs375008484	chr1:152649312-152649313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139360319	chr1:152649320-152649321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540710399	chr1:152649323-152649324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371793447	chr1:152649338-152649339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560425195	chr1:152649398-152649399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572998401	chr1:152652811-152652812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535521308	chr1:152652878-152652879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555180811	chr1:152652894-152652895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560035591	chr1:152652909-152652910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1325506	chr1:152652913-152652914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149340816	chr1:152652918-152652919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563832291	chr1:152652950-152652951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144162654	chr1:152652951-152652952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11576287	chr1:152653013-152653014	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs571883499	chr1:152653126-152653127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190622393	chr1:152653171-152653172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181709437	chr1:152653172-152653173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537216664	chr1:152653193-152653194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35716455	chr1:152653198-152653199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369398628	chr1:152653215-152653216	Enhancers	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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