Variant report

Variant	esv2146372
Chromosome Location	chr7:112431867-112431868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:112431765-112432278	HepG2	liver:	n/a	n/a
2	FOXA1	chr7:112431527-112432212	HepG2	liver:	n/a	n/a
3	FOXA1	chr7:112431379-112432223	HepG2	liver:	n/a	n/a
4	FOXA1	chr7:112431864-112432256	HepG2	liver:	n/a	n/a
5	FOXA1	chr7:112431448-112432164	HepG2	liver:	n/a	n/a
6	FOXA2	chr7:112431563-112432180	HepG2	liver:	n/a	n/a
7	HEY1	chr7:112431561-112432346	HepG2	liver:	n/a	n/a
8	HEY1	chr7:112431530-112431869	HepG2	liver:	n/a	n/a
9	HNF4A	chr7:112431843-112432106	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:112429633-112432379	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:112431362-112432522	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:112431510-112431925	HepG2	liver:	n/a	n/a
13	POLR2A	chr7:112431418-112431917	HepG2	liver:	n/a	n/a
14	TBP	chr7:112431418-112432140	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:112089239..112091876-chr7:112428390..112433191,6	K562	blood:
2	chr7:112421681..112427261-chr7:112427948..112432124,6	MCF-7	breast:
3	chr7:112431532..112434194-chr7:112463729..112466329,2	K562	blood:

No data

Variant related genes	Relation type
TMEM168	TF binding region
ENSG00000146802	chromatin interactions
ENSG00000006652	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 84 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572673892	chr7:112431867-112431868	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21248843	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112430400-112433000	Active TSS	HepG2	liver
2	chr7:112430800-112440400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:112431000-112432000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:112431000-112432000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:112431000-112432000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:112431000-112432400	Weak transcription	K562	blood
7	chr7:112431200-112432200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:112431200-112433600	Weak transcription	Primary B cells from cord blood	blood
9	chr7:112431800-112432000	Weak transcription	Esophagus	oesophagus
10	chr7:112431800-112432800	Active TSS	NHEK	skin

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