Variant report

Variant	esv3392696
Chromosome Location	chr2:211993457-211995755
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	chr2:211989762..211992437-chr2:211995215..211997517,2	MCF-7	breast:

Extended variants
information (count: 99 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568096059	chr2:211993486-211993487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527642897	chr2:211993535-211993536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547789283	chr2:211993547-211993548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570807116	chr2:211993556-211993557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575873476	chr2:211993568-211993569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543289290	chr2:211993589-211993590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117106041	chr2:211993595-211993596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10190808	chr2:211993631-211993632	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs144045159	chr2:211993634-211993635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10203100	chr2:211993656-211993657	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs180995326	chr2:211993673-211993674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572385558	chr2:211993675-211993676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10166833	chr2:211993683-211993684	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374289595	chr2:211993748-211993749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564997921	chr2:211993781-211993782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557739403	chr2:211993791-211993792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370758673	chr2:211993859-211993860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577626287	chr2:211993886-211993887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1469927	chr2:211993950-211993951	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs185773312	chr2:211993967-211993968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562940081	chr2:211993988-211993989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77592853	chr2:211994015-211994016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542031040	chr2:211994016-211994017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34568172	chr2:211994030-211994031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192335918	chr2:211994077-211994078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201376401	chr2:211994083-211994084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200775577	chr2:211994084-211994085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201958481	chr2:211994085-211994086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114988997	chr2:211994088-211994089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547433553	chr2:211994189-211994190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1469928	chr2:211994192-211994193	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs533263719	chr2:211994207-211994208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200484859	chr2:211994223-211994224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145939640	chr2:211994227-211994228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1469929	chr2:211994230-211994231	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181901641	chr2:211994245-211994246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555624377	chr2:211994275-211994276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114190871	chr2:211994281-211994282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116121520	chr2:211994349-211994350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557460300	chr2:211994386-211994387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62179762	chr2:211994398-211994399	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs571454951	chr2:211994412-211994413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543131830	chr2:211994445-211994446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139835569	chr2:211994458-211994459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34840656	chr2:211994495-211994496	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs35661215	chr2:211994509-211994510	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs561951990	chr2:211994515-211994516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186279338	chr2:211994533-211994534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190550752	chr2:211994617-211994618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564300533	chr2:211994640-211994641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211991800-211994600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:211993000-211994200	Enhancers	Hela-S3	cervix
3	chr2:211993200-211993600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:211993200-211993600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:211993200-211993600	Enhancers	HMEC	breast
6	chr2:211993200-211993800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:211993400-211997000	Weak transcription	NHEK	skin
8	chr2:211993600-211994800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:211993600-211994800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:211993600-211994800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:211993600-211996800	Weak transcription	HMEC	breast
12	chr2:211993600-211997400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:211993800-211994200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:211994200-211994600	Weak transcription	Hela-S3	cervix
15	chr2:211994200-211995400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:211994600-211996400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:211994600-211998800	Enhancers	Hela-S3	cervix
18	chr2:211994800-211995200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:211994800-211995200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:211994800-211995200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:211994800-211995200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:211994800-211995200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:211995000-211995200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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