Variant report

Variant	nsv518034
Chromosome Location	chr7:126750322-126753750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr7:126752257-126752510	HepG2	liver:	n/a	n/a
2	STAT3	chr7:126752099-126752183	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:126752816-126752866	HepG2	liver:	n/a
2	chr7:126752816-126752866	GM19239	blood:	n/a
3	chr7:126752816-126752866	NHDF-neo	bronchial:	n/a
4	chr7:126752911-126752961	ovcar-3	ovarian:	n/a
5	chr7:126752911-126752961	SKMC	muscle:	n/a
6	chr7:126752911-126752961	MCF10A-Er-Src	breast:	n/a
7	chr7:126752816-126752866	Jurkat	blood:	n/a
8	chr7:126752911-126752961	HCPEpiC	choroid plexus:	n/a
9	chr7:126752816-126752866	AG10803	skin:	n/a
10	chr7:126752911-126752961	HCF	heart:	n/a
11	chr7:126752911-126752961	MCF-7	breast:	n/a
12	chr7:126752911-126752961	HRCEpiC	kidney:	n/a
13	chr7:126752911-126752961	IMR90	lung:	fetal
14	chr7:126752911-126752961	NB4	blood:	n/a
15	chr7:126752911-126752961	HMEC	breast:	n/a
16	chr7:126752816-126752866	PFSK-1	brain:	n/a
17	chr7:126752816-126752866	PANC-1	pancreas:	n/a
18	chr7:126752911-126752961	HEK293	kidney:	embryo
19	chr7:126752816-126752866	T-47D	breast:	n/a
20	chr7:126752816-126752866	NB4	blood:	n/a
21	chr7:126752911-126752961	SK-N-SH_RA	brain:	n/a
22	chr7:126752911-126752961	Hepatocyte	liver:	n/a
23	chr7:126752816-126752866	LNCaP	prostate:	n/a
24	chr7:126752911-126752961	NT2-D1	testis:	n/a
25	chr7:126752816-126752866	MCF-7	breast:	n/a
26	chr7:126752911-126752961	LNCaP	prostate:	n/a
27	chr7:126752911-126752961	HPAEpiC	pulmonary alveolar:	n/a
28	chr7:126752911-126752961	AG09309	skin:	n/a
29	chr7:126752816-126752866	HPAEpiC	pulmonary alveolar:	n/a
30	chr7:126752816-126752866	GM12892	blood:	n/a
31	chr7:126752911-126752961	A549	lung:	n/a
32	chr7:126752816-126752866	Hela-S3	cervix:	n/a
33	chr7:126752911-126752961	GM12891	blood:	n/a
34	chr7:126752911-126752961	RPTEC	kidney:	n/a
35	chr7:126752816-126752866	HMEC	breast:	n/a
36	chr7:126752911-126752961	AG10803	skin:	n/a
37	chr7:126752911-126752961	AG04450	lung:	fetal
38	chr7:126752816-126752866	SAEC	small airway:	n/a
39	chr7:126752816-126752866	SK-N-SH	brain:	n/a
40	chr7:126752816-126752866	HAEpiC	amniotic membrane:	n/a
41	chr7:126752816-126752866	GM12878	blood:	n/a
42	chr7:126752911-126752961	HRE	kidney:	n/a
43	chr7:126752911-126752961	HCM	heart:	n/a
44	chr7:126752911-126752961	T-47D	breast:	n/a
45	chr7:126752911-126752961	Caco-2	colon:	n/a
46	chr7:126752911-126752961	NHDF-neo	bronchial:	n/a
47	chr7:126752911-126752961	HepG2	liver:	n/a
48	chr7:126752911-126752961	AG04449	skin:	fetal
49	chr7:126752816-126752866	NHBE	bronchial:	n/a
50	chr7:126752911-126752961	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:126744151..126746757-chr7:126749061..126750994,2	K562	blood:
2	chr7:126748685..126750706-chr7:126758876..126761407,2	K562	blood:

No data

Variant related genes	Relation type
GRM8	TF binding region
GRM8	CpG island
ENSG00000179603	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11563719	chr7:126750322-126750323	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141864046	chr7:126750330-126750331	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs568198339	chr7:126750376-126750377	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553410533	chr7:126750394-126750395	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575029410	chr7:126750400-126750401	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs17865511	chr7:126750413-126750414	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557123874	chr7:126750528-126750529	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190395427	chr7:126750552-126750553	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs147239325	chr7:126750557-126750558	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11563718	chr7:126750570-126750571	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532028364	chr7:126750618-126750619	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs1160175	chr7:126750619-126750620	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559394558	chr7:126750646-126750647	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568462869	chr7:126750657-126750658	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529961835	chr7:126750659-126750660	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548448642	chr7:126750660-126750661	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs72420950	chr7:126750671-126750672	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563448713	chr7:126750672-126750673	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139385179	chr7:126750743-126750744	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs143331909	chr7:126750793-126750794	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552719428	chr7:126750841-126750842	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs570928553	chr7:126750904-126750905	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371839229	chr7:126750910-126750911	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569040585	chr7:126750948-126750949	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs183135207	chr7:126752353-126752354	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs187651659	chr7:126752438-126752439	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs192230481	chr7:126752451-126752452	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs1361954	chr7:126752481-126752482	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs17866144	chr7:126752818-126752819	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs80148402	chr7:126752920-126752921	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs188160348	chr7:126752925-126752926	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs376537475	chr7:126752957-126752958	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs558055579	chr7:126753445-126753446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573008485	chr7:126753463-126753464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111835382	chr7:126753494-126753495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17865555	chr7:126753501-126753502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13309000	chr7:126753528-126753529	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs66659162	chr7:126753529-126753530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367926359	chr7:126753535-126753536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142957104	chr7:126753544-126753545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192819462	chr7:126753597-126753598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184385217	chr7:126753600-126753601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562607216	chr7:126753654-126753655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13239559	chr7:126753700-126753701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs545025487	chr7:126753702-126753703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572931291	chr7:126753721-126753722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11563716	chr7:126753750-126753751	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Prostate cancer	22341455	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126753400-126755400	Enhancers	HUES48 Cell Line	embryonic stem cell

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