Variant report

Variant	nsv981609
Chromosome Location	chr7:150209773-150210863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:150209790-150209854	GM13976	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150210742-150210792	SKMC	muscle:	n/a
2	chr7:150210785-150210835	GM06990	blood:	n/a
3	chr7:150210785-150210835	ProgFib	skin:	n/a
4	chr7:150210785-150210835	BE2_C	brain:	n/a
5	chr7:150210742-150210792	HMEC	breast:	n/a
6	chr7:150210785-150210835	HMEC	breast:	n/a
7	chr7:150210742-150210792	H1-hESC	embryonic stem cell:	embryo
8	chr7:150210742-150210792	HRCEpiC	kidney:	n/a
9	chr7:150210785-150210835	HCPEpiC	choroid plexus:	n/a
10	chr7:150210785-150210835	T-47D	breast:	n/a
11	chr7:150210785-150210835	Hepatocyte	liver:	n/a
12	chr7:150210785-150210835	HRE	kidney:	n/a
13	chr7:150210742-150210792	HNPCEpiC	eye:	n/a
14	chr7:150210742-150210792	ovcar-3	ovarian:	n/a
15	chr7:150210742-150210792	SAEC	small airway:	n/a
16	chr7:150210742-150210792	NT2-D1	testis:	n/a
17	chr7:150210742-150210792	PFSK-1	brain:	n/a
18	chr7:150210742-150210792	Hepatocyte	liver:	n/a
19	chr7:150210742-150210792	HAEpiC	amniotic membrane:	n/a
20	chr7:150210785-150210835	NB4	blood:	n/a
21	chr7:150210785-150210835	BJ	skin:	n/a
22	chr7:150210742-150210792	SK-N-MC	brain:	n/a
23	chr7:150210785-150210835	HRPEpiC	eye:	n/a
24	chr7:150210742-150210792	HCT-116	colon:	n/a
25	chr7:150210742-150210792	AG04450	lung:	fetal
26	chr7:150210785-150210835	MCF-7	breast:	n/a
27	chr7:150210742-150210792	U87	brain:	n/a
28	chr7:150210742-150210792	AG10803	skin:	n/a
29	chr7:150210785-150210835	HIPEpiC	eye:	n/a
30	chr7:150210785-150210835	RPTEC	kidney:	n/a
31	chr7:150210742-150210792	Hela-S3	cervix:	n/a
32	chr7:150210742-150210792	HEEpiC	esophagus:	n/a
33	chr7:150210785-150210835	AoSMC	blood vessel:	n/a
34	chr7:150210785-150210835	A549	lung:	n/a
35	chr7:150210785-150210835	HPAEpiC	pulmonary alveolar:	n/a
36	chr7:150210785-150210835	SKMC	muscle:	n/a
37	chr7:150210742-150210792	GM12892	blood:	n/a
38	chr7:150210742-150210792	SK-N-SH_RA	brain:	n/a
39	chr7:150210785-150210835	ECC-1	luminal epithelium:	n/a
40	chr7:150210785-150210835	GM12878	blood:	n/a
41	chr7:150210785-150210835	Caco-2	colon:	n/a
42	chr7:150210742-150210792	K562	blood:	n/a
43	chr7:150210742-150210792	ProgFib	skin:	n/a
44	chr7:150210742-150210792	HCF	heart:	n/a
45	chr7:150210742-150210792	NHBE	bronchial:	n/a
46	chr7:150210785-150210835	HUVEC	blood vessel:	n/a
47	chr7:150210742-150210792	HUVEC	blood vessel:	n/a
48	chr7:150210785-150210835	AG04449	skin:	fetal
49	chr7:150210785-150210835	GM12891	blood:	n/a
50	chr7:150210785-150210835	SK-N-SH_RA	brain:	n/a

No data

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GIMAP6-4	chr7:150209647-150210927	NONHSAT124142

No data

Variant related genes	Relation type
GIMAP7	TF binding region
GIMAP7	CpG island

Extended variants
information (count: 54 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13307037	chr7:150209842-150209843	Weak transcription Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs144365874	chr7:150209843-150209844	Weak transcription Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs13307048	chr7:150209870-150209871	Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs576917307	chr7:150209875-150209876	Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs545852589	chr7:150209897-150209898	Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs147828213	chr7:150209918-150209919	Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs531564243	chr7:150209951-150209952	Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs548598859	chr7:150209990-150209991	Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs146199373	chr7:150210032-150210033	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs562224523	chr7:150210082-150210083	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs528037601	chr7:150210105-150210106	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs7784108	chr7:150210148-150210149	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs543705204	chr7:150210169-150210170	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs374126181	chr7:150210194-150210195	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs76902898	chr7:150210213-150210214	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs113728665	chr7:150210214-150210215	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs144809441	chr7:150210216-150210217	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs34690968	chr7:150210218-150210219	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs549871536	chr7:150210225-150210226	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs569780409	chr7:150210276-150210277	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs535087402	chr7:150210278-150210279	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs188282636	chr7:150210359-150210360	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs372865661	chr7:150210365-150210366	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs181048631	chr7:150210371-150210372	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs147019302	chr7:150210377-150210378	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs557776716	chr7:150210384-150210385	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs73480189	chr7:150210416-150210417	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs532661987	chr7:150210436-150210437	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs562627411	chr7:150210492-150210493	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs576158220	chr7:150210505-150210506	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs541503928	chr7:150210531-150210532	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs137896423	chr7:150210561-150210562	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs149045621	chr7:150210562-150210563	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs113053556	chr7:150210588-150210589	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs112415572	chr7:150210606-150210607	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs548025578	chr7:150210607-150210608	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs143030114	chr7:150210629-150210630	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs188789801	chr7:150210647-150210648	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs73480190	chr7:150210672-150210673	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs181481754	chr7:150210695-150210696	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs141657595	chr7:150210698-150210699	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs548690985	chr7:150210705-150210706	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs28755928	chr7:150210749-150210750	Enhancers Flanking Active TSS Weak transcription	CpG island lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs534324787	chr7:150210769-150210770	Enhancers Flanking Active TSS Weak transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs116734487	chr7:150210777-150210778	Enhancers Flanking Active TSS Weak transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs577550613	chr7:150210785-150210786	Enhancers Flanking Active TSS Weak transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs536829937	chr7:150210792-150210793	Enhancers Flanking Active TSS Weak transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs112086502	chr7:150210797-150210798	Enhancers Flanking Active TSS Weak transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs186600507	chr7:150210811-150210812	Enhancers Flanking Active TSS Weak transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs370842401	chr7:150210817-150210818	Enhancers Flanking Active TSS Weak transcription	CpG island lncRNA	1 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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150201600-150211200	Weak transcription	Thymus	Thymus
2	chr7:150202600-150211000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:150202800-150210800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:150203800-150211200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:150205400-150211000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr7:150205600-150211000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr7:150205800-150209800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:150207600-150210600	Weak transcription	Dnd41	blood
9	chr7:150207600-150210800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:150208800-150210400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr7:150208800-150210400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:150209200-150210000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr7:150209200-150210800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr7:150209400-150209800	Enhancers	Primary T cells from cord blood	blood
15	chr7:150209400-150209800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:150209400-150210000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:150209400-150210000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr7:150209400-150210200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr7:150209400-150211000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:150209600-150210000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:150209600-150210200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr7:150209600-150211000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr7:150209800-150210000	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr7:150209800-150210200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:150209800-150210600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:150210000-150210400	Enhancers	Primary T cells from cord blood	blood
27	chr7:150210000-150210600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr7:150210000-150210600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:150210000-150210800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:150210000-150211000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr7:150210200-150210600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr7:150210200-150210600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr7:150210200-150211000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:150210400-150210800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr7:150210400-150211200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr7:150210400-150211600	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr7:150210600-150211000	Enhancers	Dnd41	blood
38	chr7:150210600-150211200	Enhancers	Adipose Nuclei	Adipose
39	chr7:150210600-150211400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:150210600-150211400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:150210600-150211400	Enhancers	Fetal Thymus	thymus
42	chr7:150210600-150211600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr7:150210600-150211800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr7:150210600-150211800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr7:150210800-150211000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:150210800-150211000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:150210800-150211000	Enhancers	Small Intestine	intestine
48	chr7:150210800-150211200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr7:150210800-150211400	Enhancers	Primary hematopoietic stem cells	blood
50	chr7:150210800-150211600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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