Variant report

Variant	nsv971187
Chromosome Location	chr7:126090098-126101043
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	BCLAF1	chr7:126090272-126090898	GM12878	blood:	n/a	n/a
2	BCLAF1	chr7:126090235-126090798	GM12878	blood:	n/a	n/a
3	BHLHE40	chr7:126089835-126090907	GM12878	blood:	n/a	n/a
4	BRCA1	chr7:126090538-126090546	GM12878	blood:	n/a	n/a
5	CCNT2	chr7:126099340-126099539	K562	blood:	n/a	n/a
6	CEBPB	chr7:126100594-126100794	H1-hESC	embryonic stem cell:	n/a	chr7:126100653-126100666 chr7:126100655-126100664 chr7:126100653-126100664 chr7:126100655-126100666
7	CEBPB	chr7:126100511-126100809	IMR90	lung:	n/a	chr7:126100653-126100666 chr7:126100655-126100664 chr7:126100653-126100664 chr7:126100655-126100666
8	CEBPB	chr7:126100471-126100834	HepG2	liver:	n/a	chr7:126100653-126100666 chr7:126100655-126100664 chr7:126100653-126100664 chr7:126100655-126100666
9	CEBPB	chr7:126100510-126100809	K562	blood:	n/a	chr7:126100653-126100666 chr7:126100655-126100664 chr7:126100653-126100664 chr7:126100655-126100666
10	CHD1	chr7:126089898-126091153	GM12878	blood:	n/a	n/a
11	CHD2	chr7:126089964-126090744	GM12878	blood:	n/a	n/a
12	EBF1	chr7:126090251-126090866	GM12878	blood:	n/a	n/a
13	EBF1	chr7:126095231-126095247	GM12878	blood:	n/a	n/a
14	ELF1	chr7:126090315-126090713	GM12878	blood:	n/a	chr7:126090571-126090582
15	EP300	chr7:126090040-126091318	GM12878	blood:	n/a	chr7:126090622-126090636
16	EP300	chr7:126090280-126090687	GM12878	blood:	n/a	chr7:126090622-126090636
17	EP300	chr7:126089804-126091145	GM12878	blood:	n/a	chr7:126090622-126090636
18	GATA2	chr7:126089833-126090121	SH-SY5Y	brain:	n/a	n/a
19	MAFK	chr7:126099978-126100011	HepG2	liver:	n/a	chr7:126099990-126100005 chr7:126099992-126100001
20	MAFK	chr7:126099988-126100021	HepG2	liver:	n/a	chr7:126099990-126100005 chr7:126099992-126100001
21	MAX	chr7:126090243-126091347	GM12878	blood:	n/a	chr7:126090390-126090403 chr7:126090392-126090401 chr7:126090390-126090403 chr7:126090391-126090402
22	MEF2A	chr7:126090266-126090889	GM12878	blood:	n/a	chr7:126090682-126090697
23	MTA3	chr7:126090071-126090816	GM12878	blood:	n/a	n/a
24	MXI1	chr7:126089861-126091207	GM12878	blood:	n/a	n/a
25	MYC	chr7:126097677-126097774	H1-hESC	embryonic stem cell:	n/a	n/a
26	NFE2	chr7:126090274-126090474	GM12878	blood:	n/a	chr7:126090392-126090401
27	NFIC	chr7:126090200-126091065	GM12878	blood:	n/a	n/a
28	NFIC	chr7:126090255-126090859	GM12878	blood:	n/a	n/a
29	NFYB	chr7:126090075-126090934	GM12878	blood:	n/a	chr7:126090487-126090500
30	POLR2A	chr7:126090130-126090706	GM12878	blood:	n/a	n/a
31	POLR2A	chr7:126093214-126093560	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr7:126090365-126090629	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:126090192-126090811	GM12892	blood:	n/a	n/a
34	POLR2A	chr7:126098974-126099154	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr7:126098217-126098401	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr7:126095893-126095897	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr7:126095114-126095298	K562	blood:	n/a	n/a
38	POLR2A	chr7:126090970-126091131	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr7:126090470-126090613	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:126090148-126090713	Raji	blood:	n/a	n/a
41	POU2F2	chr7:126090249-126090754	GM12891	blood:	n/a	chr7:126090496-126090508 chr7:126090497-126090507 chr7:126090497-126090507 chr7:126090496-126090509 chr7:126090498-126090507 chr7:126090496-126090510
42	POU2F2	chr7:126090207-126090768	GM12878	blood:	n/a	chr7:126090496-126090508 chr7:126090497-126090507 chr7:126090497-126090507 chr7:126090496-126090509 chr7:126090498-126090507 chr7:126090496-126090510
43	POU2F2	chr7:126090369-126090690	GM12878	blood:	n/a	chr7:126090496-126090508 chr7:126090497-126090507 chr7:126090497-126090507 chr7:126090496-126090509 chr7:126090498-126090507 chr7:126090496-126090510
44	POU2F2	chr7:126090375-126090642	GM12891	blood:	n/a	chr7:126090496-126090508 chr7:126090497-126090507 chr7:126090497-126090507 chr7:126090496-126090509 chr7:126090498-126090507 chr7:126090496-126090510
45	RCOR1	chr7:126089872-126090896	GM12878	blood:	n/a	n/a
46	RFX5	chr7:126097219-126097419	K562	blood:	n/a	n/a
47	RUNX3	chr7:126090298-126090936	GM12878	blood:	n/a	n/a
48	RUNX3	chr7:126090078-126091007	GM12878	blood:	n/a	n/a
49	SMC3	chr7:126091077-126091127	GM12878	blood:	n/a	n/a
50	SP1	chr7:126090146-126090691	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GRM8	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567281051	chr7:126090122-126090123	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs12706731	chr7:126090189-126090190	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs193112669	chr7:126090227-126090228	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs574535658	chr7:126090337-126090338	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs571472264	chr7:126090430-126090431	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs538564766	chr7:126090441-126090442	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs184590430	chr7:126090443-126090444	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs572268207	chr7:126090449-126090450	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs13247338	chr7:126090509-126090510	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs555085489	chr7:126090519-126090520	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs368522820	chr7:126090531-126090532	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs17679839	chr7:126090571-126090572	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs558687008	chr7:126090585-126090586	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs577427954	chr7:126090589-126090590	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs71576278	chr7:126090595-126090596	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs541319043	chr7:126090620-126090621	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs73442988	chr7:126090629-126090630	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs138773238	chr7:126090657-126090658	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs35311551	chr7:126090662-126090663	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs566131748	chr7:126090679-126090680	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs34548667	chr7:126090680-126090681	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs398111847	chr7:126090691-126090692	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs141179099	chr7:126090728-126090729	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs561008333	chr7:126090856-126090857	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs531309641	chr7:126090880-126090881	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs371200007	chr7:126090938-126090939	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs188945096	chr7:126090956-126090957	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs114578395	chr7:126090985-126090986	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs546093558	chr7:126091048-126091049	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs374576757	chr7:126091071-126091072	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs150721560	chr7:126091135-126091136	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs139001968	chr7:126091148-126091149	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs547693554	chr7:126091180-126091181	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs79686177	chr7:126091192-126091193	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs2106194	chr7:126091200-126091201	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs2106195	chr7:126091218-126091219	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs181385398	chr7:126091237-126091238	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs563146300	chr7:126091256-126091257	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs185828859	chr7:126091258-126091259	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs115481583	chr7:126091276-126091277	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs537160061	chr7:126091285-126091286	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs3948750	chr7:126091301-126091302	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs2106196	chr7:126091345-126091346	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs11767749	chr7:126091381-126091382	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs376749560	chr7:126091505-126091506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs577144032	chr7:126091525-126091526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs113980103	chr7:126091567-126091568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs189777011	chr7:126091695-126091696	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs562791434	chr7:126091715-126091716	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs574812554	chr7:126091722-126091723	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Epilepsy	21635232	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
Autism	19246517	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126082400-126090200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:126088600-126091000	Enhancers	HSMMtube	muscle
3	chr7:126089200-126091000	Enhancers	Fetal Lung	lung
4	chr7:126089800-126090600	Enhancers	Fetal Intestine Large	intestine
5	chr7:126089800-126090600	Enhancers	NH-A	brain
6	chr7:126089800-126091000	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr7:126089800-126091400	Flanking Active TSS	GM12878-XiMat	blood
8	chr7:126090000-126090400	Flanking Active TSS	Fetal Heart	heart
9	chr7:126090200-126090600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr7:126090400-126091400	Enhancers	Fetal Heart	heart
11	chr7:126091400-126091600	ZNF genes & repeats	GM12878-XiMat	blood

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