Variant report

Variant	esv3477572
Chromosome Location	chr7:150718942-150719547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150718943..150723286-chr7:150723746..150726907,4	MCF-7	breast:
2	chr7:150575333..150577357-chr7:150717786..150719549,2	K562	blood:
3	chr7:150713283..150718085-chr7:150719345..150725201,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243433	chromatin interactions
ENSG00000181652	chromatin interactions
ENSG00000197150	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113703723	chr7:150718943-150718944	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs570666009	chr7:150718949-150718950	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11327568	chr7:150718950-150718951	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371607490	chr7:150718971-150718972	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs560257171	chr7:150718982-150718983	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs375206482	chr7:150719003-150719004	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs112347590	chr7:150719020-150719021	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs2373928	chr7:150719025-150719026	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544020667	chr7:150719027-150719028	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs532228491	chr7:150719032-150719033	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs79684285	chr7:150719035-150719036	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs184882570	chr7:150719036-150719037	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs550878069	chr7:150719043-150719044	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs112980626	chr7:150719113-150719114	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs75754500	chr7:150719115-150719116	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs532893665	chr7:150719122-150719123	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs567998640	chr7:150719136-150719137	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs188185122	chr7:150719177-150719178	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs547196825	chr7:150719183-150719184	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs140459049	chr7:150719276-150719277	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs538858826	chr7:150719293-150719294	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs558768880	chr7:150719319-150719320	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs569207508	chr7:150719320-150719321	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs538173506	chr7:150719323-150719324	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs554931568	chr7:150719338-150719339	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574753047	chr7:150719354-150719355	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs540691155	chr7:150719371-150719372	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs566519065	chr7:150719464-150719465	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs144527061	chr7:150719492-150719493	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs13232759	chr7:150719496-150719497	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs546009821	chr7:150719506-150719507	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs145666099	chr7:150719519-150719520	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs531622775	chr7:150719531-150719532	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150715800-150721600	Weak transcription	A549	lung
2	chr7:150716200-150725000	Weak transcription	Right Atrium	heart
3	chr7:150716800-150723200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:150717800-150723200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:150718400-150720200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:150718400-150720800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:150718400-150720800	Weak transcription	K562	blood
8	chr7:150718600-150719200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:150718600-150720400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:150718600-150720600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:150718600-150723400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:150718600-150723400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:150718800-150720200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:150719200-150719400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:150719200-150719400	Flanking Active TSS	Esophagus	oesophagus
16	chr7:150719200-150720600	Enhancers	Placenta	Placenta
17	chr7:150719400-150720000	Weak transcription	Esophagus	oesophagus

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