Variant report

Variant	nsv511998
Chromosome Location	chr7:150299281-150306979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:150299328-150299415	Pancreas_OC	pancreas:	n/a	n/a
2	FOXA2	chr7:150302944-150303317	A549	lung:	n/a	n/a
3	POLR2A	chr7:150304969-150305006	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GIMAP6-1	chr7:150300649-150301732	NONHSAT124145

Variant related genes	Relation type
ENSG00000271568	TF binding region

Extended variants
information (count: 492 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570531960	chr7:150299282-150299283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60502280	chr7:150299283-150299284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs558590288	chr7:150299286-150299287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13013202	chr7:150299296-150299297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs188655819	chr7:150299305-150299306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537798554	chr7:150299307-150299308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372913956	chr7:150299331-150299332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193268002	chr7:150299337-150299338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556118847	chr7:150299344-150299345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184137956	chr7:150299354-150299355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187875625	chr7:150299359-150299360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111855610	chr7:150299360-150299361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141108861	chr7:150299364-150299365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200005640	chr7:150299375-150299376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545900052	chr7:150299380-150299381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13421100	chr7:150299404-150299405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562530536	chr7:150299414-150299415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113770837	chr7:150299417-150299418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13420912	chr7:150299421-150299422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541886681	chr7:150299440-150299441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561650885	chr7:150299449-150299450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527611397	chr7:150299469-150299470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138650541	chr7:150299473-150299474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145044051	chr7:150299483-150299484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544607050	chr7:150299486-150299487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532940777	chr7:150299498-150299499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28884217	chr7:150299521-150299522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs28846824	chr7:150299530-150299531	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs537940611	chr7:150299536-150299537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564785842	chr7:150299542-150299543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200869164	chr7:150299548-150299549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62502351	chr7:150299568-150299569	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs555159589	chr7:150299574-150299575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376381065	chr7:150299595-150299596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147297382	chr7:150299635-150299636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534532917	chr7:150299638-150299639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139139526	chr7:150299639-150299640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562243438	chr7:150299649-150299650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577378872	chr7:150299662-150299663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112070767	chr7:150299676-150299677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113859219	chr7:150299698-150299699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556793768	chr7:150299700-150299701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576237458	chr7:150299770-150299771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78863105	chr7:150299775-150299776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139421056	chr7:150299806-150299807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191770410	chr7:150299810-150299811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541326904	chr7:150299813-150299814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564177864	chr7:150299823-150299824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112196192	chr7:150299824-150299825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78095005	chr7:150299840-150299841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Adrenocortical carcinoma	18281524	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150292600-150300200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:150293000-150300200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:150293200-150300200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:150294400-150300200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr7:150300200-150300600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr7:150300200-150300800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr7:150300200-150301000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:150300200-150301200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr7:150300200-150301400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:150300200-150301600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr7:150300200-150301800	Enhancers	Primary T cells from cord blood	blood
12	chr7:150300200-150301800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:150300200-150303000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr7:150300400-150300600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:150300400-150301400	Enhancers	Dnd41	blood
16	chr7:150300600-150301400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr7:150300600-150301800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr7:150300600-150302200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:150300600-150316800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:150300800-150301200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr7:150301000-150307000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:150301200-150302600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr7:150301200-150307000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr7:150301400-150307000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:150301600-150303200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:150301800-150303000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:150301800-150303200	Weak transcription	Primary T cells from cord blood	blood
28	chr7:150302200-150307000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:150302600-150303800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr7:150302600-150309400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr7:150303000-150303600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:150303000-150306800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr7:150303200-150303600	Enhancers	Primary T cells from cord blood	blood
34	chr7:150303200-150303800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr7:150303600-150304800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:150303600-150307800	Weak transcription	Primary T cells from cord blood	blood
37	chr7:150303800-150307000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr7:150304800-150305200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:150305200-150306800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:150306800-150307800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr7:150306800-150308000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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