Variant report

Variant	esv3428056
Chromosome Location	chr4:8098105-8098542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8098463..8100832-chr4:8106304..8108910,3	MCF-7	breast:
2	chr4:8094362..8096472-chr4:8096849..8099675,2	MCF-7	breast:
3	chr4:8085902..8087976-chr4:8097347..8099641,2	MCF-7	breast:
4	chr4:8097226..8098995-chr4:8106673..8109329,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189546093	chr4:8098115-8098116	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574300855	chr4:8098135-8098136	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1320067	chr4:8098165-8098166	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1320068	chr4:8098177-8098178	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12501747	chr4:8098178-8098179	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551474139	chr4:8098186-8098187	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142634387	chr4:8098195-8098196	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527764334	chr4:8098199-8098200	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371679372	chr4:8098220-8098221	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192445844	chr4:8098221-8098222	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567882524	chr4:8098235-8098236	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183920625	chr4:8098254-8098255	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144965232	chr4:8098288-8098289	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568808768	chr4:8098303-8098304	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541749856	chr4:8098353-8098354	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539763524	chr4:8098354-8098355	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557453946	chr4:8098415-8098416	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572816732	chr4:8098432-8098433	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11930537	chr4:8098445-8098446	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs145869556	chr4:8098454-8098455	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188247931	chr4:8098456-8098457	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373804462	chr4:8098471-8098472	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28713734	chr4:8098492-8098493	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs148968398	chr4:8098503-8098504	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9291388	chr4:8098513-8098514	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs530679989	chr4:8098514-8098515	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545714278	chr4:8098517-8098518	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	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
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8073200-8099400	Weak transcription	Psoas Muscle	Psoas
2	chr4:8081600-8114400	Weak transcription	Gastric	stomach
3	chr4:8082400-8102600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:8082400-8102800	Weak transcription	Right Atrium	heart
5	chr4:8084000-8104400	Weak transcription	Pancreas	Pancrea
6	chr4:8085800-8112000	Weak transcription	Brain Angular Gyrus	brain
7	chr4:8090400-8100600	Weak transcription	Left Ventricle	heart
8	chr4:8092000-8100400	Weak transcription	Right Ventricle	heart
9	chr4:8092800-8100800	Weak transcription	Hela-S3	cervix
10	chr4:8093000-8098400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:8096200-8098800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:8096200-8099200	Weak transcription	Brain Substantia Nigra	brain
13	chr4:8096800-8098200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:8096800-8111600	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:8097000-8099000	Strong transcription	Aorta	Aorta
16	chr4:8097400-8098400	Strong transcription	Brain Inferior Temporal Lobe	brain
17	chr4:8097400-8098400	Strong transcription	Stomach Smooth Muscle	stomach
18	chr4:8097400-8098600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:8097400-8098600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
20	chr4:8097400-8098800	Genic enhancers	Spleen	Spleen
21	chr4:8097400-8099200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
22	chr4:8097600-8099800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr4:8097600-8101000	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:8097800-8098200	Weak transcription	Adipose Nuclei	Adipose
25	chr4:8097800-8098200	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr4:8097800-8098400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr4:8097800-8100600	Strong transcription	Esophagus	oesophagus
28	chr4:8097800-8105200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:8098200-8098800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr4:8098200-8099400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:8098200-8099600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:8098200-8100000	Enhancers	Adipose Nuclei	Adipose
33	chr4:8098400-8098600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:8098400-8098800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:8098400-8100200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr4:8098400-8109600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr4:8098400-8110200	Weak transcription	Brain Inferior Temporal Lobe	brain

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