Variant report

Variant	esv3384604
Chromosome Location	chr2:211690495-211709690
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	chr17:57922098..57924197-chr2:211699892..211701526,2	MCF-7	breast:

Extended variants
information (count: 213 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:213 , 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	rs2542924	chr2:211698206-211698207	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545967886	chr2:211698297-211698298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35063095	chr2:211698301-211698302	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531427768	chr2:211698390-211698391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6757069	chr2:211698420-211698421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568051771	chr2:211698444-211698445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527243477	chr2:211698452-211698453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547729731	chr2:211698499-211698500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142187010	chr2:211698503-211698504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369903751	chr2:211698506-211698507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4673562	chr2:211698511-211698512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182346087	chr2:211698548-211698549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375753461	chr2:211698568-211698569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548013243	chr2:211698574-211698575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538339735	chr2:211698583-211698584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34052153	chr2:211698612-211698613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554722691	chr2:211698679-211698680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574790103	chr2:211698700-211698701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540204062	chr2:211698717-211698718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373016961	chr2:211698769-211698770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs56294429	chr2:211698800-211698801	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566128972	chr2:211698807-211698808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577108450	chr2:211698816-211698817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546031115	chr2:211698848-211698849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563095889	chr2:211698868-211698869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531767463	chr2:211698870-211698871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541919014	chr2:211698874-211698875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73987018	chr2:211698887-211698888	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs527305932	chr2:211698891-211698892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151061542	chr2:211698922-211698923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564413587	chr2:211698928-211698929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140817683	chr2:211698957-211698958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549762248	chr2:211698974-211698975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144582257	chr2:211698992-211698993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7607199	chr2:211704032-211704033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2542923	chr2:211704083-211704084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145329897	chr2:211704109-211704110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572804268	chr2:211704132-211704133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181197083	chr2:211704133-211704134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539228215	chr2:211704165-211704166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552666922	chr2:211704203-211704204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76718077	chr2:211704242-211704243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533505361	chr2:211704271-211704272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537889405	chr2:211704316-211704317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554537625	chr2:211704334-211704335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1016403	chr2:211704356-211704357	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs534228992	chr2:211704392-211704393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114917845	chr2:211704416-211704417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577391302	chr2:211704422-211704423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546060277	chr2:211704446-211704447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211698200-211698600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:211698200-211699000	Enhancers	H9 Cell Line	embryonic stem cell
3	chr2:211704000-211704400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:211704400-211707400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:211707200-211707600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:211707200-211707600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:211707200-211707800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:211707200-211707800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:211707200-211708000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:211707200-211708000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:211707400-211707800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:211707400-211707800	Enhancers	Brain Germinal Matrix	brain
13	chr2:211707400-211708000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:211707400-211708200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:211707800-211710400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:211707800-211712400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:211708000-211711000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:211708200-211708800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:211708800-211709000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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