Variant report

Variant	esv3431633
Chromosome Location	chr4:7363501-7365999
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	chr4:7343522..7345728-chr4:7361522..7364374,3	MCF-7	breast:

Extended variants
information (count: 167 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538757783	chr4:7363504-7363505	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs77212556	chr4:7363510-7363511	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs546429558	chr4:7363511-7363512	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs16835129	chr4:7363515-7363516	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528818304	chr4:7363534-7363535	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs547008347	chr4:7363535-7363536	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs554279329	chr4:7363561-7363562	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs562395322	chr4:7363580-7363581	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs143324069	chr4:7363588-7363589	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs572589140	chr4:7363591-7363592	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs569421908	chr4:7363596-7363597	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs369070401	chr4:7363598-7363599	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs551972087	chr4:7363619-7363620	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs570337904	chr4:7363627-7363628	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs71635959	chr4:7363628-7363629	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7688797	chr4:7363629-7363630	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs574674341	chr4:7363640-7363641	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs535487489	chr4:7363642-7363643	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs557355198	chr4:7363645-7363646	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs188792346	chr4:7363650-7363651	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs193252077	chr4:7363651-7363652	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs546292556	chr4:7363667-7363668	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs115155103	chr4:7363745-7363746	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs184521635	chr4:7363868-7363869	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs573393852	chr4:7363894-7363895	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs540816834	chr4:7363939-7363940	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs146727816	chr4:7363943-7363944	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs187815143	chr4:7363948-7363949	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs76133821	chr4:7363951-7363952	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs17814167	chr4:7363952-7363953	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs555039326	chr4:7364005-7364006	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs576745797	chr4:7364062-7364063	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs141279912	chr4:7364063-7364064	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs570202208	chr4:7364091-7364092	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs150224852	chr4:7364178-7364179	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs191812137	chr4:7364182-7364183	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs568275624	chr4:7364193-7364194	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs138832994	chr4:7364194-7364195	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs377739900	chr4:7364207-7364208	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs544010811	chr4:7364226-7364227	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs79041922	chr4:7364250-7364251	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs569303013	chr4:7364281-7364282	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs539828683	chr4:7364284-7364285	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs558329628	chr4:7364337-7364338	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs565453460	chr4:7364345-7364346	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs184031961	chr4:7364352-7364353	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs148924276	chr4:7364365-7364366	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs532874744	chr4:7364407-7364408	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs143677487	chr4:7364425-7364426	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs67254856	chr4:7364431-7364432	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7346600-7367200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:7351400-7365000	Enhancers	Brain Cingulate Gyrus	brain
3	chr4:7351600-7365000	Enhancers	Brain Substantia Nigra	brain
4	chr4:7353600-7364800	Enhancers	Brain Anterior Caudate	brain
5	chr4:7358200-7365000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr4:7358800-7366800	Weak transcription	Right Ventricle	heart
7	chr4:7359200-7364600	Weak transcription	Gastric	stomach
8	chr4:7360200-7367200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:7360400-7364400	Weak transcription	Fetal Kidney	kidney
10	chr4:7360400-7367800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:7360600-7366800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:7360800-7364400	Enhancers	Fetal Lung	lung
13	chr4:7361000-7364000	Enhancers	Fetal Stomach	stomach
14	chr4:7361000-7364600	Enhancers	Stomach Smooth Muscle	stomach
15	chr4:7361000-7365000	Enhancers	Brain Angular Gyrus	brain
16	chr4:7361000-7365000	Enhancers	Brain Hippocampus Middle	brain
17	chr4:7361400-7364800	Enhancers	Ovary	ovary
18	chr4:7361400-7365000	Enhancers	Brain Germinal Matrix	brain
19	chr4:7362000-7364600	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr4:7362200-7363600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:7362400-7363600	Enhancers	Fetal Brain Male	brain
22	chr4:7362400-7364400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:7362400-7364400	Enhancers	Fetal Muscle Trunk	muscle
24	chr4:7362600-7364000	Enhancers	HSMMtube	muscle
25	chr4:7362800-7363600	Enhancers	Fetal Heart	heart
26	chr4:7362800-7364400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr4:7363000-7364200	Enhancers	HSMM	muscle
28	chr4:7363200-7364600	Weak transcription	Lung	lung
29	chr4:7363400-7366400	Weak transcription	Left Ventricle	heart
30	chr4:7363400-7366400	Weak transcription	Right Atrium	heart
31	chr4:7363400-7366400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr4:7363600-7364000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr4:7363600-7364400	Weak transcription	Fetal Brain Male	brain
34	chr4:7363600-7366000	Weak transcription	Fetal Heart	heart
35	chr4:7363600-7368000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:7363800-7364600	Enhancers	Esophagus	oesophagus
37	chr4:7364000-7364600	ZNF genes & repeats	Fetal Stomach	stomach
38	chr4:7364400-7364600	Active TSS	Fetal Lung	lung
39	chr4:7364400-7364800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:7364400-7365200	ZNF genes & repeats	Fetal Brain Male	brain
41	chr4:7364400-7365200	ZNF genes & repeats	Fetal Kidney	kidney
42	chr4:7364600-7365000	ZNF genes & repeats	Gastric	stomach
43	chr4:7364600-7365000	ZNF genes & repeats	Lung	lung
44	chr4:7364600-7365200	ZNF genes & repeats	Fetal Lung	lung
45	chr4:7364600-7366600	Weak transcription	Fetal Stomach	stomach
46	chr4:7364600-7367200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr4:7364600-7367600	Weak transcription	Esophagus	oesophagus
48	chr4:7364800-7365000	ZNF genes & repeats	Brain Anterior Caudate	brain
49	chr4:7364800-7366600	Weak transcription	Ovary	ovary
50	chr4:7365000-7365200	Weak transcription	Pancreas	Pancrea

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