Variant report

Variant	esv3427842
Chromosome Location	chr4:8266087-8266628
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	POLR2A	chr4:8265614-8266191	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr4:8265719-8266148	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8261994..8265646-chr4:8266271..8270310,6	MCF-7	breast:
2	chr4:8266213..8269192-chr4:8274192..8276756,2	K562	blood:

Variant related genes	Relation type
HTRA3	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191893601	chr4:8266091-8266092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542089813	chr4:8266140-8266141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35725849	chr4:8266147-8266148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12650149	chr4:8266171-8266172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs575963080	chr4:8266183-8266184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546531613	chr4:8266256-8266257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143960225	chr4:8266274-8266275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148607668	chr4:8266286-8266287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577764483	chr4:8266315-8266316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142076503	chr4:8266331-8266332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4696676	chr4:8266333-8266334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371764980	chr4:8266354-8266355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562075528	chr4:8266363-8266364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529405186	chr4:8266375-8266376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116604475	chr4:8266401-8266402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12650213	chr4:8266405-8266406	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs150797373	chr4:8266421-8266422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552093970	chr4:8266439-8266440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs57549224	chr4:8266446-8266447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534342300	chr4:8266449-8266450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139222453	chr4:8266450-8266451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574413120	chr4:8266451-8266452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535540411	chr4:8266462-8266463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557235203	chr4:8266472-8266473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145302793	chr4:8266490-8266491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71635966	chr4:8266508-8266509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12649078	chr4:8266509-8266510	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs77740098	chr4:8266536-8266537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75315787	chr4:8266566-8266567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370199519	chr4:8266575-8266576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562137547	chr4:8266588-8266589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529322667	chr4:8266606-8266607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551062640	chr4:8266612-8266613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563133487	chr4:8266614-8266615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200982630	chr4:8266617-8266618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8249800-8268400	Weak transcription	Right Atrium	heart
2	chr4:8249800-8268600	Weak transcription	Fetal Intestine Small	intestine
3	chr4:8254800-8271600	Weak transcription	Gastric	stomach
4	chr4:8258000-8271000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:8263000-8268200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:8263000-8268400	Weak transcription	Fetal Lung	lung
7	chr4:8263000-8268400	Weak transcription	Right Ventricle	heart
8	chr4:8263000-8268600	Weak transcription	A549	lung
9	chr4:8263000-8269200	Weak transcription	Esophagus	oesophagus
10	chr4:8263200-8268400	Weak transcription	Adipose Nuclei	Adipose
11	chr4:8263200-8268400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:8263800-8268000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:8263800-8270800	Weak transcription	Lung	lung
14	chr4:8264200-8268600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr4:8264200-8268800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr4:8264800-8267800	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:8264800-8268600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:8264800-8268800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr4:8265400-8266400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:8265400-8268200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:8265400-8268400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:8265400-8269200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:8265800-8268400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:8266000-8266400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:8266400-8267000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:8266400-8267400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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