Variant report

Variant	esv3333576
Chromosome Location	chr4:8087251-8087504
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	chr4:8085902..8087976-chr4:8097347..8099641,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547617152	chr4:8087271-8087272	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559633946	chr4:8087300-8087301	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530008871	chr4:8087301-8087302	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11731829	chr4:8087305-8087306	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569529987	chr4:8087307-8087308	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537074223	chr4:8087315-8087316	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34309113	chr4:8087322-8087323	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371838702	chr4:8087324-8087325	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183186793	chr4:8087332-8087333	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs55974618	chr4:8087350-8087351	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568355340	chr4:8087354-8087355	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535757673	chr4:8087355-8087356	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557662404	chr4:8087364-8087365	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575517153	chr4:8087365-8087366	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546189939	chr4:8087366-8087367	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375174363	chr4:8087384-8087385	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573372101	chr4:8087385-8087386	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540773360	chr4:8087395-8087396	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559574998	chr4:8087396-8087397	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374204284	chr4:8087405-8087406	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs558020371	chr4:8087406-8087407	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs529945590	chr4:8087407-8087408	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs541732156	chr4:8087408-8087409	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs368391596	chr4:8087425-8087426	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs146580164	chr4:8087426-8087427	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs530383310	chr4:8087436-8087437	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs186115218	chr4:8087448-8087449	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs374128909	chr4:8087449-8087450	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs570157262	chr4:8087482-8087483	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs191018619	chr4:8087497-8087498	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8073200-8099400	Weak transcription	Psoas Muscle	Psoas
2	chr4:8078600-8095800	Weak transcription	Aorta	Aorta
3	chr4:8081400-8091600	Weak transcription	Lung	lung
4	chr4:8081600-8114400	Weak transcription	Gastric	stomach
5	chr4:8082400-8102600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:8082400-8102800	Weak transcription	Right Atrium	heart
7	chr4:8082800-8087600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:8082800-8087600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:8083200-8088200	Weak transcription	Left Ventricle	heart
10	chr4:8083400-8097400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:8083800-8090000	Weak transcription	Fetal Heart	heart
12	chr4:8083800-8091600	Weak transcription	Esophagus	oesophagus
13	chr4:8084000-8089800	Weak transcription	Right Ventricle	heart
14	chr4:8084000-8104400	Weak transcription	Pancreas	Pancrea
15	chr4:8084200-8088800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:8085000-8087600	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:8085200-8088200	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:8085800-8112000	Weak transcription	Brain Angular Gyrus	brain
19	chr4:8086600-8089800	Weak transcription	Brain Anterior Caudate	brain
20	chr4:8086800-8088000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:8087200-8087400	Genic enhancers	Spleen	Spleen
22	chr4:8087400-8087800	Transcr. at gene 5' and 3'	Spleen	Spleen

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