Variant report

Variant	esv3425957
Chromosome Location	chr4:28806904-28809302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:28787492..28790119-chr4:28809128..28811907,2	K562	blood:
2	chr4:28805670..28808284-chr4:28808958..28811325,2	K562	blood:
3	chr4:28805670..28808284-chr4:28808958..28811325,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574597654	chr4:28808611-28808612	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs530209524	chr4:28808648-28808649	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs207464443	chr4:28808658-28808659	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs373157653	chr4:28808707-28808708	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs1579161	chr4:28808785-28808786	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs374224804	chr4:28808805-28808806	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs3040816	chr4:28808806-28808807	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs201805417	chr4:28808840-28808841	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538338277	chr4:28808931-28808932	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs1113827	chr4:28808956-28808957	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs373916238	chr4:28808968-28808969	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs566858845	chr4:28808984-28808985	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs532517717	chr4:28808998-28808999	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28808600-28809000	Active TSS	Breast Myoepithelial Primary Cells	Breast

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