Variant report

Variant	esv11028
Chromosome Location	chr4:26438714-26441364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:26439953..26442346-chr4:27061840..27063686,2	K562	blood:
2	chr4:26438899..26441461-chr4:26443781..26447435,3	K562	blood:
3	chr4:26439053..26441508-chr4:26443087..26445412,2	MCF-7	breast:

Extended variants
information (count: 114 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145711645	chr4:26438723-26438724	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs3113020	chr4:26438726-26438727	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs3113021	chr4:26438732-26438733	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184482418	chr4:26438734-26438735	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543904459	chr4:26438751-26438752	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188751338	chr4:26438763-26438764	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193291144	chr4:26438771-26438772	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545692011	chr4:26438777-26438778	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548368886	chr4:26438810-26438811	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568398881	chr4:26438818-26438819	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527581468	chr4:26438845-26438846	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547118851	chr4:26438853-26438854	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3113022	chr4:26438863-26438864	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs536059730	chr4:26438872-26438873	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184279463	chr4:26438890-26438891	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549572063	chr4:26438900-26438901	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556247682	chr4:26438905-26438906	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528573049	chr4:26438910-26438911	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569617862	chr4:26438956-26438957	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75034710	chr4:26438973-26438974	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3113023	chr4:26438976-26438977	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149000201	chr4:26438980-26438981	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs3113024	chr4:26439002-26439003	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs3113025	chr4:26439022-26439023	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs143827972	chr4:26439026-26439027	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541313146	chr4:26439058-26439059	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112889502	chr4:26439059-26439060	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148136590	chr4:26439133-26439134	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10805262	chr4:26439223-26439224	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563818945	chr4:26439249-26439250	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529391196	chr4:26439250-26439251	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542073021	chr4:26439290-26439291	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561855358	chr4:26439306-26439307	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs16878337	chr4:26439308-26439309	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs12646990	chr4:26439334-26439335	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34914004	chr4:26439345-26439346	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10517098	chr4:26439424-26439425	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs10517099	chr4:26439486-26439487	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532959917	chr4:26439528-26439529	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77309367	chr4:26439572-26439573	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569442678	chr4:26439595-26439596	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553005051	chr4:26439598-26439599	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375147008	chr4:26439621-26439622	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535176331	chr4:26439630-26439631	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10517100	chr4:26439631-26439632	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs565940381	chr4:26439650-26439651	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192179930	chr4:26439658-26439659	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs57056140	chr4:26439715-26439716	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs578161878	chr4:26439751-26439752	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537486034	chr4:26439756-26439757	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26375200-26439200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:26381600-26439800	Weak transcription	Spleen	Spleen
3	chr4:26408000-26439000	Weak transcription	Hela-S3	cervix
4	chr4:26408400-26442000	Weak transcription	Aorta	Aorta
5	chr4:26413800-26440200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr4:26414600-26443000	Weak transcription	Fetal Brain Male	brain
7	chr4:26417200-26443600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:26420200-26440600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr4:26422200-26440800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:26422200-26440800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:26422800-26441200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:26423000-26442600	Weak transcription	Fetal Heart	heart
13	chr4:26423200-26446000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:26423400-26459200	Weak transcription	Thymus	Thymus
15	chr4:26424400-26440800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:26425200-26441800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:26425600-26442600	Weak transcription	Stomach Mucosa	stomach
18	chr4:26425800-26440200	Strong transcription	Placenta	Placenta
19	chr4:26426200-26440600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:26427200-26440000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:26428600-26440600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:26428800-26442600	Weak transcription	Pancreas	Pancrea
23	chr4:26429000-26442800	Weak transcription	Psoas Muscle	Psoas
24	chr4:26431000-26440200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:26431800-26444400	Weak transcription	Gastric	stomach
26	chr4:26431800-26445200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:26432000-26440000	Weak transcription	K562	blood
28	chr4:26432400-26441600	Weak transcription	HUVEC	blood vessel
29	chr4:26432400-26443400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:26432600-26439000	Weak transcription	Lung	lung
31	chr4:26432600-26439400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr4:26432600-26439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:26432600-26442600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:26432600-26442600	Weak transcription	Brain Anterior Caudate	brain
35	chr4:26432600-26442800	Weak transcription	Esophagus	oesophagus
36	chr4:26432600-26442800	Weak transcription	Right Ventricle	heart
37	chr4:26432600-26444600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:26432600-26445600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr4:26432800-26439400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:26432800-26439800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr4:26432800-26442000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:26433200-26440800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr4:26433600-26439800	Weak transcription	Brain Germinal Matrix	brain
44	chr4:26433600-26444200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:26433800-26439600	Weak transcription	Fetal Kidney	kidney
46	chr4:26433800-26441800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:26433800-26444200	Weak transcription	HepG2	liver
48	chr4:26434000-26439000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:26434400-26440000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr4:26434400-26442600	Weak transcription	Brain Inferior Temporal Lobe	brain

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