Variant report

Variant	esv3341770
Chromosome Location	chr2:7327201-7331599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:7326218..7327860-chr2:7329938..7331497,2	K562	blood:
2	chr2:7322586..7324476-chr2:7325281..7327983,2	MCF-7	breast:
3	chr2:7330725..7333657-chr2:7333775..7335694,2	K562	blood:
4	chr2:7326218..7327860-chr2:7329938..7331497,2	K562	blood:

Extended variants
information (count: 249 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:249 , 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	rs6739710	chr2:7327203-7327204	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191717360	chr2:7327261-7327262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183464606	chr2:7327273-7327274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551806256	chr2:7327326-7327327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140412433	chr2:7327385-7327386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539280089	chr2:7327411-7327412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534322333	chr2:7327432-7327433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535036611	chr2:7327436-7327437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554038080	chr2:7327453-7327454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567830502	chr2:7327500-7327501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536475420	chr2:7327526-7327527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375860997	chr2:7327565-7327566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554940223	chr2:7327570-7327571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576337552	chr2:7327578-7327579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10929469	chr2:7327579-7327580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544559274	chr2:7327580-7327581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35309222	chr2:7327593-7327594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558546811	chr2:7327595-7327596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35113821	chr2:7327596-7327597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572013392	chr2:7327632-7327633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541107034	chr2:7327678-7327679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560850151	chr2:7327703-7327704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529914553	chr2:7327713-7327714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144273098	chr2:7327743-7327744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74761015	chr2:7327764-7327765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386642830	chr2:7327830-7327831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113494815	chr2:7327831-7327832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551771464	chr2:7327860-7327861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571630048	chr2:7327972-7327973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527719705	chr2:7327978-7327979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547847557	chr2:7327994-7327995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567695480	chr2:7327997-7327998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62106498	chr2:7328028-7328029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs62106499	chr2:7328032-7328033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs76377625	chr2:7328033-7328034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569988052	chr2:7328035-7328036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185682456	chr2:7328044-7328045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190145886	chr2:7328064-7328065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571988765	chr2:7328095-7328096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534370827	chr2:7328106-7328107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554638134	chr2:7328164-7328165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577734326	chr2:7328178-7328179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151149502	chr2:7328182-7328183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543594869	chr2:7328220-7328221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140123712	chr2:7328238-7328239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577174920	chr2:7328285-7328286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546061294	chr2:7328294-7328295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553830229	chr2:7328362-7328363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150293822	chr2:7328411-7328412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181518324	chr2:7328428-7328429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7321200-7328200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:7321200-7328400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:7321200-7329200	Weak transcription	Pancreas	Pancrea
4	chr2:7321400-7328400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:7321400-7331600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:7327200-7327400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:7327200-7330600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:7328200-7328400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:7328200-7328600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:7328400-7328600	Enhancers	A549	lung
11	chr2:7328400-7328800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:7328400-7328800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:7328400-7328800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:7328400-7329000	Enhancers	Placenta	Placenta
15	chr2:7328400-7329400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:7328400-7329400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:7328600-7330200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:7328800-7329600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:7328800-7329800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:7328800-7330400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:7329000-7329600	Enhancers	Spleen	Spleen
22	chr2:7329200-7329600	ZNF genes & repeats	Fetal Kidney	kidney
23	chr2:7329200-7329600	Enhancers	Pancreas	Pancrea
24	chr2:7329400-7329600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:7329400-7330800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:7329400-7331800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:7329400-7332400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:7329600-7329800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:7329600-7330400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:7329600-7330400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:7329600-7332000	Weak transcription	Fetal Kidney	kidney
32	chr2:7329800-7330600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:7329800-7331400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:7330000-7330200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:7330000-7331200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:7330200-7330400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:7330200-7331400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:7330200-7332000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:7330400-7330800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:7330400-7331000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:7330400-7331200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:7330400-7331200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr2:7330400-7331200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr2:7330400-7331200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr2:7330400-7331400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:7330400-7332400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr2:7330400-7332400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:7330600-7330800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:7330600-7331000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:7330800-7331000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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