Variant report

Variant	esv2760584
Chromosome Location	chr2:189564499-189584350
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	chr2:189583743..189586666-chr2:189589000..189591672,2	MCF-7	breast:
2	chr2:189560390..189562782-chr2:189566828..189569265,2	K562	blood:

Extended variants
information (count: 246 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:246 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75930425	chr2:189564505-189564506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551141640	chr2:189564579-189564580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572660887	chr2:189564606-189564607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181914776	chr2:189564682-189564683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10173369	chr2:189564693-189564694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185889013	chr2:189564729-189564730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117046538	chr2:189564748-189564749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563671203	chr2:189564854-189564855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189954295	chr2:189564879-189564880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552792304	chr2:189564880-189564881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571148143	chr2:189564921-189564922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377350800	chr2:189564967-189564968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182602487	chr2:189564993-189564994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547191756	chr2:189565016-189565017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75556117	chr2:189565042-189565043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564572769	chr2:189565062-189565063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535501072	chr2:189565118-189565119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117336381	chr2:189565149-189565150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568791556	chr2:189565170-189565171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11678035	chr2:189565202-189565203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs565130096	chr2:189565207-189565208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7599978	chr2:189565261-189565262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540165801	chr2:189565266-189565267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184985783	chr2:189565298-189565299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573774889	chr2:189565302-189565303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542261479	chr2:189565306-189565307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34919713	chr2:189565313-189565314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563986636	chr2:189565327-189565328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563639647	chr2:189565349-189565350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151053711	chr2:189565352-189565353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546214757	chr2:189565380-189565381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2678360	chr2:189565491-189565492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs116284997	chr2:189565510-189565511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34539181	chr2:189565528-189565529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547335424	chr2:189565587-189565588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144572530	chr2:189565684-189565685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529470433	chr2:189565714-189565715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550613093	chr2:189565748-189565749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529601161	chr2:189565928-189565929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568849482	chr2:189565933-189565934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539568281	chr2:189565988-189565989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561816393	chr2:189566036-189566037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116102122	chr2:189566118-189566119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533807434	chr2:189566137-189566138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527929384	chr2:189566140-189566141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2660921	chr2:189566141-189566142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs116789888	chr2:189566194-189566195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537632173	chr2:189566272-189566273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541007103	chr2:189566386-189566387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559115778	chr2:189566463-189566464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
Acute myeloid leukemia	20729466	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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189561200-189569400	Weak transcription	NHDF-Ad	bronchial
2	chr2:189561800-189566400	Weak transcription	NH-A	brain
3	chr2:189562400-189566800	Weak transcription	Dnd41	blood
4	chr2:189566400-189567000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:189566400-189567000	Enhancers	NH-A	brain
6	chr2:189566600-189567200	Enhancers	HUVEC	blood vessel
7	chr2:189566800-189567200	Enhancers	Dnd41	blood
8	chr2:189567000-189570200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:189569400-189570400	Enhancers	NHDF-Ad	bronchial
10	chr2:189570200-189570600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:189582600-189585200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:189583400-189585000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:189584000-189584200	Enhancers	Adipose Nuclei	Adipose
14	chr2:189584000-189584200	Enhancers	Fetal Stomach	stomach

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