Variant report

Variant	esv3443964
Chromosome Location	chr16:77252815-77253279
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	BCL3	chr16:77253239-77253710	A549	lung:	n/a	n/a
2	BCL3	chr16:77253160-77253773	A549	lung:	n/a	n/a
3	CEBPB	chr16:77253215-77253890	A549	lung:	n/a	n/a
4	EP300	chr16:77253132-77253927	A549	lung:	n/a	n/a
5	EP300	chr16:77253163-77253964	A549	lung:	n/a	n/a
6	FOSL1	chr16:77253250-77253783	HCT-116	colon:	n/a	n/a
7	FOSL2	chr16:77253170-77253959	A549	lung:	n/a	n/a
8	FOSL2	chr16:77253275-77253720	A549	lung:	n/a	n/a
9	FOXA2	chr16:77253274-77253859	A549	lung:	n/a	n/a
10	GATA3	chr16:77253121-77254098	A549	lung:	n/a	chr16:77253535-77253542 chr16:77253535-77253545 chr16:77253533-77253542
11	GATA3	chr16:77253216-77253871	A549	lung:	n/a	chr16:77253535-77253542 chr16:77253535-77253545 chr16:77253533-77253542
12	GATA3	chr16:77253201-77253852	MCF-7	breast:	n/a	chr16:77253535-77253542 chr16:77253535-77253545 chr16:77253533-77253542
13	JUND	chr16:77253232-77253736	HCT-116	colon:	n/a	n/a
14	MAX	chr16:77253131-77253926	A549	lung:	n/a	n/a
15	MAX	chr16:77253222-77253847	A549	lung:	n/a	n/a
16	NR2F2	chr16:77253219-77253815	MCF-7	breast:	n/a	n/a
17	REST	chr16:77253199-77253790	A549	lung:	n/a	n/a
18	SP1	chr16:77253086-77253789	A549	lung:	n/a	n/a
19	SP1	chr16:77253151-77253861	HCT-116	colon:	n/a	n/a
20	SP1	chr16:77253078-77253972	A549	lung:	n/a	n/a
21	TCF12	chr16:77253121-77253964	A549	lung:	n/a	chr16:77253753-77253762
22	TCF7L2	chr16:77253257-77253818	PANC-1	pancreas:	n/a	n/a
23	ZBTB33	chr16:77253271-77253709	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:77223216..77226884-chr16:77251990..77255920,6	MCF-7	breast:
2	chr16:77251729..77253514-chr16:77255213..77256773,2	MCF-7	breast:
3	chr16:77247036..77249452-chr16:77252040..77253583,2	K562	blood:

Variant related genes	Relation type
VN2R10P	TF binding region
ENSG00000103111	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144230177	chr16:77252834-77252835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs559197832	chr16:77252847-77252848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs8058937	chr16:77252854-77252855	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554407889	chr16:77252858-77252859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs184034273	chr16:77252872-77252873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563308341	chr16:77252896-77252897	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs57148043	chr16:77252899-77252900	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189726131	chr16:77252901-77252902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549110844	chr16:77252909-77252910	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376869033	chr16:77252914-77252915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs8060990	chr16:77252916-77252917	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs528138982	chr16:77252925-77252926	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs8060395	chr16:77252961-77252962	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs561769344	chr16:77252982-77252983	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571060273	chr16:77253034-77253035	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573845670	chr16:77253067-77253068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs35185473	chr16:77253068-77253069	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs59096531	chr16:77253087-77253088	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs113131864	chr16:77253099-77253100	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs570078720	chr16:77253111-77253112	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs550464900	chr16:77253128-77253129	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs150984461	chr16:77253132-77253133	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs555862330	chr16:77253147-77253148	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs558950567	chr16:77253149-77253150	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs181213793	chr16:77253153-77253154	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs140807316	chr16:77253160-77253161	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs573123583	chr16:77253184-77253185	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs570283768	chr16:77253218-77253219	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs35660173	chr16:77253224-77253225	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:80)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Lung cancer	24585490	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	17363583	CNVD
Ovarian cancer	21720365	CNVD
Bipolar disorder	19114987	CNVD
Barrett''s syndrome	19417022	CNVD
Colorectal cancer	22860045	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77247200-77253600	Weak transcription	Fetal Lung	lung
2	chr16:77247400-77254600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr16:77247600-77254400	Weak transcription	Ovary	ovary
4	chr16:77247600-77257000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr16:77247800-77253600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:77247800-77257400	Weak transcription	Esophagus	oesophagus
7	chr16:77247800-77261600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:77248400-77253200	Weak transcription	Hela-S3	cervix
9	chr16:77248400-77256400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:77248600-77253200	Weak transcription	NH-A	brain
11	chr16:77248800-77253200	Weak transcription	HUVEC	blood vessel
12	chr16:77248800-77254400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:77248800-77256800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:77248800-77257200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr16:77248800-77262000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr16:77251200-77253000	Weak transcription	A549	lung
17	chr16:77253000-77253200	Enhancers	A549	lung
18	chr16:77253200-77253600	Enhancers	NH-A	brain
19	chr16:77253200-77253800	Enhancers	Hela-S3	cervix
20	chr16:77253200-77253800	Enhancers	HUVEC	blood vessel
21	chr16:77253200-77254400	Flanking Active TSS	A549	lung

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