Variant report

Variant	esv2461473
Chromosome Location	chr4:26527455-26528878
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:26522451..26525005-chr4:26526111..26528805,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552406220	chr4:26527505-26527506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7689334	chr4:26527522-26527523	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs537961416	chr4:26527533-26527534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548223198	chr4:26527587-26527588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs16878450	chr4:26527609-26527610	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536170664	chr4:26527632-26527633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs957386	chr4:26527647-26527648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546361713	chr4:26527662-26527663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188764521	chr4:26527673-26527674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562572265	chr4:26527839-26527840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140259360	chr4:26527840-26527841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558375072	chr4:26527859-26527860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75471118	chr4:26527870-26527871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142681112	chr4:26527880-26527881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377620228	chr4:26527922-26527923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554637464	chr4:26527993-26527994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575162090	chr4:26528013-26528014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10939119	chr4:26528032-26528033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs190999789	chr4:26528073-26528074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374386903	chr4:26528081-26528082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577375215	chr4:26528104-26528105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546230559	chr4:26528105-26528106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182839434	chr4:26528132-26528133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531867916	chr4:26528137-26528138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377473820	chr4:26528138-26528139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556611328	chr4:26528164-26528165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187260314	chr4:26528184-26528185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546502579	chr4:26528207-26528208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566617690	chr4:26528224-26528225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551343945	chr4:26528225-26528226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532205922	chr4:26528233-26528234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552391315	chr4:26528246-26528247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568841261	chr4:26528264-26528265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113373541	chr4:26528265-26528266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200360675	chr4:26528275-26528276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554520705	chr4:26528278-26528279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554575249	chr4:26528303-26528304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571889317	chr4:26528313-26528314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150133012	chr4:26528320-26528321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200621766	chr4:26528330-26528331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568365971	chr4:26528331-26528332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192177758	chr4:26528333-26528334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184560365	chr4:26528348-26528349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188297246	chr4:26528363-26528364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533714793	chr4:26528372-26528373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553969272	chr4:26528373-26528374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568074784	chr4:26528396-26528397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534453739	chr4:26528397-26528398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201847913	chr4:26528409-26528410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554508025	chr4:26528443-26528444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	17133270	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
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26523200-26530800	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:26523800-26527600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:26523800-26527800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:26523800-26527800	Enhancers	HSMMtube	muscle
5	chr4:26523800-26528000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:26524400-26527800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:26525600-26527800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:26526000-26528000	Enhancers	NHDF-Ad	bronchial
9	chr4:26526600-26527800	Enhancers	HSMM	muscle
10	chr4:26526600-26527800	Enhancers	NHLF	lung
11	chr4:26526800-26527600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:26526800-26527800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:26526800-26527800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:26526800-26527800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:26526800-26527800	Enhancers	NH-A	brain
16	chr4:26526800-26527800	Enhancers	Osteobl	bone
17	chr4:26527200-26527800	Enhancers	HMEC	breast
18	chr4:26527800-26528800	Weak transcription	HSMMtube	muscle
19	chr4:26527800-26530600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:26527800-26530600	Weak transcription	HSMM	muscle
21	chr4:26528800-26532200	Enhancers	HSMMtube	muscle

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