Variant report

Variant	esv3417480
Chromosome Location	chr4:15808754-15809221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538584198	chr4:15808761-15808762	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558901967	chr4:15808768-15808769	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573817133	chr4:15808836-15808837	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78519135	chr4:15808851-15808852	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541330411	chr4:15808864-15808865	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554831514	chr4:15808962-15808963	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574669094	chr4:15809004-15809005	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375967617	chr4:15809020-15809021	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564449935	chr4:15809046-15809047	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72616177	chr4:15809068-15809069	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs192102322	chr4:15809073-15809074	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545344654	chr4:15809156-15809157	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386672052	chr4:15809162-15809163	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111804711	chr4:15809164-15809165	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199814813	chr4:15809167-15809168	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528022035	chr4:15809173-15809174	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7668511	chr4:15809174-15809175	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530288292	chr4:15809175-15809176	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576262703	chr4:15809176-15809177	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183041500	chr4:15809178-15809179	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569694336	chr4:15809215-15809216	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	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
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
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15794000-15812200	Genic enhancers	Dnd41	blood
2	chr4:15805800-15809600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:15807600-15808800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr4:15807800-15810200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr4:15807800-15810400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:15807800-15810600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr4:15808000-15809400	Genic enhancers	Primary T cells from cord blood	blood
8	chr4:15808000-15809600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:15808000-15809600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:15808000-15809800	Weak transcription	Psoas Muscle	Psoas
11	chr4:15808000-15810000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr4:15808000-15810600	Weak transcription	Adipose Nuclei	Adipose
13	chr4:15808000-15813200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:15808200-15809200	Genic enhancers	Thymus	Thymus
15	chr4:15808200-15809400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr4:15808200-15809400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr4:15808200-15809400	Genic enhancers	Fetal Thymus	thymus
18	chr4:15808200-15809600	Weak transcription	GM12878-XiMat	blood
19	chr4:15808200-15809800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:15808200-15811400	Enhancers	Spleen	Spleen
21	chr4:15808400-15809400	Weak transcription	Primary B cells from cord blood	blood
22	chr4:15808400-15809800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr4:15808400-15809800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:15808400-15810400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:15808400-15819400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:15808600-15810800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:15808800-15809000	Weak transcription	Left Ventricle	heart
28	chr4:15808800-15810400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:15809000-15809200	Enhancers	Left Ventricle	heart
30	chr4:15809000-15809200	Enhancers	Right Atrium	heart
31	chr4:15809200-15810400	Weak transcription	Thymus	Thymus
32	chr4:15809200-15810800	Weak transcription	Left Ventricle	heart

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