Variant report

Variant	esv3487927
Chromosome Location	chr2:182857460-182858220
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	chr2:182856985..182859810-chr2:182861410..182863046,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569463204	chr2:182857473-182857474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370994627	chr2:182857504-182857505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538760493	chr2:182857524-182857525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140631241	chr2:182857528-182857529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537814040	chr2:182857597-182857598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9288077	chr2:182857690-182857691	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs140422457	chr2:182857694-182857695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534239248	chr2:182857739-182857740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186846195	chr2:182857777-182857778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142095851	chr2:182857779-182857780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373979401	chr2:182857892-182857893	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs545877782	chr2:182857895-182857896	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs4666573	chr2:182857916-182857917	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs576096750	chr2:182857995-182857996	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs191773199	chr2:182858016-182858017	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs372104933	chr2:182858121-182858122	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs561687229	chr2:182858165-182858166	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs183301369	chr2:182858179-182858180	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs151197661	chr2:182858208-182858209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182843400-182904000	Weak transcription	Thymus	Thymus
2	chr2:182845400-182879000	Weak transcription	Fetal Thymus	thymus
3	chr2:182853400-182859400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:182854200-182857800	Weak transcription	Psoas Muscle	Psoas
5	chr2:182856000-182858000	Enhancers	Fetal Heart	heart
6	chr2:182857400-182857800	Enhancers	GM12878-XiMat	blood
7	chr2:182857800-182858200	Flanking Active TSS	GM12878-XiMat	blood
8	chr2:182858000-182866200	Weak transcription	Fetal Heart	heart
9	chr2:182858200-182858600	Enhancers	GM12878-XiMat	blood

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