Variant report

Variant	esv3375882
Chromosome Location	chr7:26969761-26989047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26978197..26980431-chr7:26981579..26984079,2	MCF-7	breast:
2	chr7:26966652..26968552-chr7:26968605..26970350,2	K562	blood:
3	chr7:26988409..26991338-chr7:26991544..26993555,2	MCF-7	breast:
4	chr7:26978197..26980431-chr7:26981579..26984079,2	MCF-7	breast:

Extended variants
information (count: 700 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:700 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3069929	chr7:26969793-26969794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2391368	chr7:26969796-26969797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2391369	chr7:26969797-26969798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567556088	chr7:26969826-26969827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371319247	chr7:26969840-26969841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529971170	chr7:26969858-26969859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573348165	chr7:26969955-26969956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542597335	chr7:26969964-26969965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183716607	chr7:26969999-26970000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575845276	chr7:26970000-26970001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17499567	chr7:26970012-26970013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142037562	chr7:26970050-26970051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17426636	chr7:26970059-26970060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17426643	chr7:26970060-26970061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564634408	chr7:26970066-26970067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533552617	chr7:26970070-26970071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540760937	chr7:26970092-26970093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560567542	chr7:26970150-26970151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529311301	chr7:26970179-26970180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549319159	chr7:26970204-26970205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113285204	chr7:26970217-26970218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139500974	chr7:26970218-26970219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551244522	chr7:26970286-26970287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571135066	chr7:26970317-26970318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186601337	chr7:26970375-26970376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200231078	chr7:26970380-26970381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553491108	chr7:26970405-26970406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567311592	chr7:26970441-26970442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28357095	chr7:26970489-26970490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535870457	chr7:26970495-26970496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17426650	chr7:26970512-26970513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17426657	chr7:26970532-26970533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17499574	chr7:26970535-26970536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556093917	chr7:26970557-26970558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371994621	chr7:26970567-26970568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17499581	chr7:26970575-26970576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569548025	chr7:26970580-26970581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575861320	chr7:26970640-26970641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17436291	chr7:26970645-26970646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145645514	chr7:26970734-26970735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76175079	chr7:26970761-26970762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564895465	chr7:26970785-26970786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538649833	chr7:26970810-26970811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs578237373	chr7:26970823-26970824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527660537	chr7:26970837-26970838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540822594	chr7:26970900-26970901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201421270	chr7:26970927-26970928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374436963	chr7:26970933-26970934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377020565	chr7:26970970-26970971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560578297	chr7:26970971-26970972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26968000-26971000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr7:26968200-26970800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:26968400-26970200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:26968800-26969800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:26969000-26970000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:26969000-26970000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:26969400-26970000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:26969400-26970800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:26969400-26970800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:26969600-26970000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:26969600-26970000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:26969600-26970800	Enhancers	NHDF-Ad	bronchial
13	chr7:26969600-26970800	Enhancers	NHEK	skin
14	chr7:26969800-26970000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:26969800-26970200	Enhancers	HMEC	breast
16	chr7:26969800-26970400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:26969800-26970400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:26969800-26970600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:26969800-26970600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr7:26969800-26970600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:26969800-26970800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:26969800-26970800	Enhancers	Osteobl	bone
23	chr7:26969800-26971000	Enhancers	Fetal Lung	lung
24	chr7:26970000-26970200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:26970000-26970600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:26970000-26970600	Enhancers	Brain Substantia Nigra	brain
27	chr7:26970000-26970800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:26970000-26970800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:26970800-26976600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:26970800-26976600	Weak transcription	NHDF-Ad	bronchial
31	chr7:26976600-26978400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:26976600-26978600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:26976600-26978600	Enhancers	NHDF-Ad	bronchial
34	chr7:26977000-26977400	Enhancers	Fetal Lung	lung
35	chr7:26977000-26977800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr7:26977000-26978000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:26977200-26977400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr7:26977200-26977800	Enhancers	A549	lung
39	chr7:26977200-26978000	Enhancers	Fetal Intestine Large	intestine
40	chr7:26977400-26978400	Bivalent Enhancer	Fetal Lung	lung
41	chr7:26977400-26978600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:26977400-26979000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:26977600-26978000	Enhancers	Fetal Kidney	kidney
44	chr7:26977600-26978400	Enhancers	NHEK	skin
45	chr7:26977800-26978200	Flanking Active TSS	A549	lung
46	chr7:26977800-26978400	Enhancers	HMEC	breast
47	chr7:26978000-26978200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:26978200-26978600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:26978200-26978800	Enhancers	A549	lung
50	chr7:26978200-26980200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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