Variant report

Variant	esv3407032
Chromosome Location	chr3:195568080-195570928
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:195568204-195568345	K562	blood:	n/a	n/a
2	FOS	chr3:195568636-195568745	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr3:195568550-195568820	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr3:195568572-195568772	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr3:195568549-195568835	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr3:195568485-195568793	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr3:195568475-195568798	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr3:195568473-195568800	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:195567961..195570513-chr3:195573752..195576272,2	K562	blood:
2	chr3:195568577..195570510-chr3:195585911..195588406,2	K562	blood:
3	chr3:195561374..195564288-chr3:195569433..195571276,2	K562	blood:

Variant related genes	Relation type
ENSG00000235836	TF binding region
ENSG00000223783	TF binding region
ENSG00000223783	chromatin interactions

Extended variants
information (count: 141 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560706748	chr3:195568241-195568242	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs556067538	chr3:195568289-195568290	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs567987543	chr3:195568325-195568326	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs547087264	chr3:195568342-195568343	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs534999939	chr3:195568359-195568360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58531112	chr3:195568367-195568368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58349234	chr3:195568385-195568386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs58832932	chr3:195568394-195568395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58722292	chr3:195568395-195568396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144120730	chr3:195568407-195568408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112784508	chr3:195568438-195568439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9838429	chr3:195568440-195568441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186502186	chr3:195568479-195568480	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs142229930	chr3:195568493-195568494	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs376967334	chr3:195568498-195568499	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs561635810	chr3:195568505-195568506	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs114009981	chr3:195568670-195568671	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376163202	chr3:195568727-195568728	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs140098010	chr3:195568824-195568825	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs532795763	chr3:195568842-195568843	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551419496	chr3:195568845-195568846	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs569673326	chr3:195568849-195568850	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149868135	chr3:195568851-195568852	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs6772381	chr3:195568860-195568861	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562764501	chr3:195568925-195568926	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200889912	chr3:195568936-195568937	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs562867286	chr3:195568987-195568988	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs55858449	chr3:195568988-195568989	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs535290320	chr3:195569040-195569041	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs553713225	chr3:195569109-195569110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571583932	chr3:195569117-195569118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569445881	chr3:195569123-195569124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373315807	chr3:195569155-195569156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538681027	chr3:195569162-195569163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs557407673	chr3:195569216-195569217	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs575684568	chr3:195569244-195569245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs147599558	chr3:195569253-195569254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs190690450	chr3:195569267-195569268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7618936	chr3:195569287-195569288	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11278963	chr3:195569312-195569313	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs146828125	chr3:195569347-195569348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs6583227	chr3:195569371-195569372	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs530201861	chr3:195569432-195569433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369015668	chr3:195569433-195569434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112313766	chr3:195569471-195569472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs182722982	chr3:195569479-195569480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201059551	chr3:195569596-195569597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113488043	chr3:195569597-195569598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560002103	chr3:195569641-195569642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200686144	chr3:195569645-195569646	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195567000-195568800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:195567000-195574000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:195567000-195576200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:195567000-195578000	Weak transcription	Right Atrium	heart
5	chr3:195568800-195569000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:195569000-195570400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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