Variant report

Variant	esv3402175
Chromosome Location	chr4:8330602-8333400
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	chr4:8322827..8325228-chr4:8329737..8331737,2	K562	blood:
2	chr4:8327689..8329411-chr4:8330180..8333204,3	MCF-7	breast:

Extended variants
information (count: 175 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:175 , 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	rs6447863	chr4:8330639-8330640	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571603596	chr4:8330649-8330650	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs538613502	chr4:8330665-8330666	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs553751225	chr4:8330668-8330669	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs572179178	chr4:8330674-8330675	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs542727402	chr4:8330714-8330715	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs552488866	chr4:8330715-8330716	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs530507686	chr4:8330725-8330726	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs374712533	chr4:8330748-8330749	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs58156849	chr4:8330792-8330793	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs371347671	chr4:8330802-8330803	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs573782971	chr4:8330822-8330823	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs78542132	chr4:8330842-8330843	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs149798585	chr4:8330884-8330885	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs11729460	chr4:8330889-8330890	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs11729461	chr4:8330906-8330907	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs544976340	chr4:8330908-8330909	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs560213928	chr4:8330914-8330915	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs527349136	chr4:8330923-8330924	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs6447864	chr4:8330924-8330925	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs561461123	chr4:8330929-8330930	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs564050731	chr4:8330940-8330941	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs148020278	chr4:8330948-8330949	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs550357519	chr4:8330961-8330962	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs541978172	chr4:8330962-8330963	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs11724607	chr4:8330992-8330993	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs539339185	chr4:8330996-8330997	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs547352316	chr4:8331012-8331013	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs565770429	chr4:8331014-8331015	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs185163974	chr4:8331024-8331025	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs57075594	chr4:8331062-8331063	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs530771012	chr4:8331073-8331074	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs190769047	chr4:8331074-8331075	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs537603808	chr4:8331105-8331106	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs556327411	chr4:8331106-8331107	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs140779542	chr4:8331107-8331108	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs373590644	chr4:8331121-8331122	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs545339754	chr4:8331122-8331123	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs183283056	chr4:8331129-8331130	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs560177279	chr4:8331134-8331135	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs145726547	chr4:8331136-8331137	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs542732813	chr4:8331138-8331139	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs114649011	chr4:8331148-8331149	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs61020869	chr4:8331183-8331184	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs4696815	chr4:8331206-8331207	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs114993975	chr4:8331241-8331242	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs73085819	chr4:8331244-8331245	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73799117	chr4:8331254-8331255	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs80083551	chr4:8331258-8331259	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs138674873	chr4:8331263-8331264	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	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
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8323200-8331200	Weak transcription	Fetal Heart	heart
2	chr4:8325600-8338400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:8326400-8332600	Weak transcription	Spleen	Spleen
4	chr4:8326800-8331400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:8326800-8332200	Weak transcription	Right Atrium	heart
6	chr4:8327200-8332600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:8327400-8332600	Weak transcription	Esophagus	oesophagus
8	chr4:8327600-8332400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:8327800-8331200	Weak transcription	Right Ventricle	heart
10	chr4:8330200-8331000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:8330400-8334200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr4:8330600-8332000	Enhancers	Fetal Stomach	stomach
13	chr4:8330800-8331400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:8331000-8333600	Enhancers	Fetal Muscle Leg	muscle
15	chr4:8331000-8333600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr4:8331000-8334200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:8331200-8331400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr4:8331200-8333200	Enhancers	Fetal Heart	heart
19	chr4:8331200-8334600	Enhancers	Right Ventricle	heart
20	chr4:8331400-8331800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:8331400-8332000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr4:8331400-8332400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:8331400-8333400	Enhancers	Psoas Muscle	Psoas
24	chr4:8331400-8333600	Enhancers	Left Ventricle	heart
25	chr4:8331600-8333200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:8331600-8333200	Enhancers	Ovary	ovary
27	chr4:8331600-8333400	Enhancers	Brain Hippocampus Middle	brain
28	chr4:8331800-8332200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:8332000-8332800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr4:8332000-8333400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:8332000-8333600	Bivalent Enhancer	Fetal Stomach	stomach
32	chr4:8332200-8333000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:8332200-8333200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr4:8332200-8333400	Enhancers	Right Atrium	heart
35	chr4:8332200-8333600	Enhancers	Brain Cingulate Gyrus	brain
36	chr4:8332400-8332800	Enhancers	Stomach Smooth Muscle	stomach
37	chr4:8332400-8333000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:8332400-8333200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr4:8332400-8333200	Bivalent Enhancer	Placenta	Placenta
40	chr4:8332400-8333400	Enhancers	Brain Anterior Caudate	brain
41	chr4:8332400-8333400	Enhancers	Brain Substantia Nigra	brain
42	chr4:8332400-8333400	Enhancers	HSMM	muscle
43	chr4:8332400-8333600	Enhancers	Adipose Nuclei	Adipose
44	chr4:8332400-8335200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr4:8332600-8332800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:8332600-8333000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:8332600-8333000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:8332600-8333000	Enhancers	Brain Angular Gyrus	brain
49	chr4:8332600-8333200	Enhancers	Primary hematopoietic stem cells	blood
50	chr4:8332600-8333200	Enhancers	Spleen	Spleen

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