Variant report

Variant	esv3466983
Chromosome Location	chr4:7635379-7635966
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	chr4:7631134..7633371-chr4:7634868..7637393,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149481184	chr4:7635381-7635382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567526786	chr4:7635382-7635383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73202507	chr4:7635393-7635394	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559959532	chr4:7635410-7635411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539677265	chr4:7635411-7635412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537496063	chr4:7635442-7635443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145979852	chr4:7635460-7635461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77783449	chr4:7635468-7635469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557509027	chr4:7635509-7635510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146399499	chr4:7635512-7635513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566753743	chr4:7635513-7635514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139801116	chr4:7635525-7635526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61650368	chr4:7635531-7635532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141495027	chr4:7635540-7635541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146185769	chr4:7635545-7635546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544689754	chr4:7635549-7635550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148469898	chr4:7635618-7635619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12498764	chr4:7635629-7635630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184236222	chr4:7635679-7635680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560333880	chr4:7635723-7635724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs36091614	chr4:7635726-7635727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527943325	chr4:7635735-7635736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542965547	chr4:7635756-7635757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187149009	chr4:7635824-7635825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192119489	chr4:7635827-7635828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549996670	chr4:7635831-7635832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568602002	chr4:7635867-7635868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182578103	chr4:7635896-7635897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551309200	chr4:7635927-7635928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566354199	chr4:7635934-7635935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186673490	chr4:7635955-7635956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7633000-7636400	Weak transcription	Spleen	Spleen
2	chr4:7633200-7635400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:7633200-7635400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:7633200-7636600	Weak transcription	Esophagus	oesophagus
5	chr4:7633200-7643800	Weak transcription	Brain Anterior Caudate	brain
6	chr4:7633400-7636400	Weak transcription	HSMM	muscle
7	chr4:7633400-7644400	Weak transcription	Ovary	ovary
8	chr4:7633800-7635600	Enhancers	NH-A	brain
9	chr4:7633800-7646000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:7634200-7635600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:7634400-7635600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:7634600-7635600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:7634600-7644200	Weak transcription	Brain Substantia Nigra	brain
14	chr4:7634600-7644800	Weak transcription	Brain Angular Gyrus	brain
15	chr4:7634600-7645000	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:7634800-7635400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:7635000-7635400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:7635000-7636400	Weak transcription	NHLF	lung
19	chr4:7635000-7641600	Weak transcription	Fetal Brain Male	brain
20	chr4:7635000-7644600	Weak transcription	Brain Germinal Matrix	brain
21	chr4:7635200-7635400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:7635200-7639800	Weak transcription	HepG2	liver
23	chr4:7635200-7645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:7635400-7636400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr4:7635400-7636400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:7635400-7636600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:7635600-7636000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:7635600-7636400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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