Variant report

Variant	esv3490968
Chromosome Location	chr7:150293370-150301941
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	chr7:150293420-150293457	Lung_OC	lung:	n/a	n/a
2	CTCF	chr7:150299328-150299415	Pancreas_OC	pancreas:	n/a	n/a
3	FOXA2	chr7:150294473-150294994	A549	lung:	n/a	n/a
4	SETDB1	chr7:150294278-150294562	U2OS	brain:	n/a	n/a
5	SPI1	chr7:150298248-150298385	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: 620 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139718751	chr7:150293385-150293386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12673197	chr7:150293407-150293408	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs199548268	chr7:150293424-150293425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556404658	chr7:150293514-150293515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188424089	chr7:150293594-150293595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192089870	chr7:150293600-150293601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184075360	chr7:150293601-150293602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369792591	chr7:150293652-150293653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs59824846	chr7:150293713-150293714	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs56363175	chr7:150293714-150293715	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs147412110	chr7:150293717-150293718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61411012	chr7:150293720-150293721	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186750495	chr7:150293733-150293734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79801239	chr7:150293735-150293736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191553008	chr7:150293738-150293739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61190867	chr7:150293739-150293740	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs77152065	chr7:150293748-150293749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79988845	chr7:150293757-150293758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75027007	chr7:150293761-150293762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527425891	chr7:150293768-150293769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184078667	chr7:150293781-150293782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530236728	chr7:150293804-150293805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73163513	chr7:150293817-150293818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs187058579	chr7:150293818-150293819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532931244	chr7:150293830-150293831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549819625	chr7:150293832-150293833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569888310	chr7:150293834-150293835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192735376	chr7:150293846-150293847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549208929	chr7:150293864-150293865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150930752	chr7:150293881-150293882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185117368	chr7:150293886-150293887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190176882	chr7:150293887-150293888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539205624	chr7:150293923-150293924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567387595	chr7:150293931-150293932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202155877	chr7:150293932-150293933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71216954	chr7:150293942-150293943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536320361	chr7:150293950-150293951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112206063	chr7:150293951-150293952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576019261	chr7:150293952-150293953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576849278	chr7:150293962-150293963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538245243	chr7:150293971-150293972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376342337	chr7:150293981-150293982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556582061	chr7:150293990-150293991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576719527	chr7:150293997-150293998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542147598	chr7:150294015-150294016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373261895	chr7:150294036-150294037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35651208	chr7:150294057-150294058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs35188092	chr7:150294062-150294063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs182359122	chr7:150294085-150294086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116815709	chr7:150294098-150294099	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150291200-150293800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr7:150292200-150296200	Weak transcription	Right Atrium	heart
3	chr7:150292400-150293400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:150292600-150300200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:150293000-150300200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:150293200-150294200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr7:150293200-150300200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr7:150294200-150294400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr7:150294400-150300200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr7:150300200-150300600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr7:150300200-150300800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr7:150300200-150301000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:150300200-150301200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr7:150300200-150301400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:150300200-150301600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr7:150300200-150301800	Enhancers	Primary T cells from cord blood	blood
17	chr7:150300200-150301800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:150300200-150303000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr7:150300400-150300600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:150300400-150301400	Enhancers	Dnd41	blood
21	chr7:150300600-150301400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr7:150300600-150301800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr7:150300600-150302200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr7:150300600-150316800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:150300800-150301200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:150301000-150307000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:150301200-150302600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr7:150301200-150307000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr7:150301400-150307000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr7:150301600-150303200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr7:150301800-150303000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:150301800-150303200	Weak transcription	Primary T cells from cord blood	blood

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