Variant report

Variant	nsv889188
Chromosome Location	chr7:126620555-126646353
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	CEBPB	chr7:126640722-126641110	K562	blood:	n/a	chr7:126640988-126640999
2	CEBPB	chr7:126640817-126641170	IMR90	lung:	n/a	chr7:126640988-126640999
3	CEBPB	chr7:126640645-126641176	HepG2	liver:	n/a	chr7:126640988-126640999
4	CEBPB	chr7:126640794-126641172	A549	lung:	n/a	chr7:126640988-126640999
5	CTCF	chr7:126633940-126634090	WERI-Rb-1	eye:	n/a	n/a
6	GATA3	chr7:126625352-126625369	SH-SY5Y	brain:	n/a	n/a
7	JUN	chr7:126629385-126629470	K562	blood:	n/a	n/a
8	MAFK	chr7:126633581-126633652	HepG2	liver:	n/a	n/a
9	MAX	chr7:126632229-126632275	NB4	blood:	n/a	n/a
10	MAX	chr7:126633651-126634318	NB4	blood:	n/a	chr7:126634029-126634039
11	MAZ	chr7:126621584-126621775	HepG2	liver:	n/a	n/a
12	MYC	chr7:126633760-126634305	NB4	blood:	n/a	chr7:126634029-126634039
13	POLR2A	chr7:126633644-126634336	HL-60	blood:	n/a	n/a
14	POLR2A	chr7:126630271-126630291	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr7:126633673-126634490	HL-60	blood:	n/a	n/a
16	POLR2A	chr7:126631830-126631990	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr7:126630574-126630755	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:126625231-126625425	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr7:126628085-126628458	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr7:126645002-126645146	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr7:126628088-126628493	H1-neurons	neurons:	n/a	n/a
22	REST	chr7:126628068-126628444	H1-neurons	neurons:	n/a	n/a
23	REST	chr7:126633565-126634401	HL-60	blood:	n/a	n/a
24	RFX5	chr7:126643161-126643303	K562	blood:	n/a	n/a
25	SPI1	chr7:126633623-126634185	HL-60	blood:	n/a	n/a
26	SPI1	chr7:126633533-126634243	HL-60	blood:	n/a	n/a
27	STAT3	chr7:126640726-126641029	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr7:126645744-126645944	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr7:126641553-126641699	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr7:126626881-126627081	MCF10A-Er-Src	breast:	n/a	n/a
31	USF1	chr7:126623886-126624021	HepG2	liver:	n/a	chr7:126623964-126623975
32	USF1	chr7:126623902-126624037	HepG2	liver:	n/a	chr7:126623964-126623975
33	USF2	chr7:126623931-126624114	HepG2	liver:	n/a	n/a
34	ZNF143	chr7:126630126-126630185	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	7:126085913-126088095..7:126639464-126642359	K562	blood:
2	chr7:126634749..126637802-chr7:126647798..126650684,3	K562	blood:
3	chr7:126643620..126647077-chr7:126648157..126650582,3	K562	blood:
4	chr7:126634749..126636430-chr7:126647798..126650007,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARF5-15	chr7:126642417-126642543	ucscGeneNc_uc003vlv_2

Variant related genes	Relation type
ENSG00000230820	TF binding region
ENSG00000179603	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17869591	chr7:126634210-126634211	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187894995	chr7:126634254-126634255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17865306	chr7:126634280-126634281	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577234146	chr7:126634284-126634285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17869590	chr7:126634367-126634368	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553331634	chr7:126634461-126634462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572043475	chr7:126634468-126634469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192460391	chr7:126634469-126634470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373499240	chr7:126634483-126634484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1582255	chr7:126634489-126634490	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs537648855	chr7:126634497-126634498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145587245	chr7:126634526-126634527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574685973	chr7:126634533-126634534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34290505	chr7:126634565-126634566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543907887	chr7:126634575-126634576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565202619	chr7:126634583-126634584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184503780	chr7:126634608-126634609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541469214	chr7:126634656-126634657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138085558	chr7:126634657-126634658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149513204	chr7:126634667-126634668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542611121	chr7:126634721-126634722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558644416	chr7:126634729-126634730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548551987	chr7:126634741-126634742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374540578	chr7:126634801-126634802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1582256	chr7:126634804-126634805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200902402	chr7:126634805-126634806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77949446	chr7:126634815-126634816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572914379	chr7:126634858-126634859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189806467	chr7:126634903-126634904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192930296	chr7:126634935-126634936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370891559	chr7:126634958-126634959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568336084	chr7:126635027-126635028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538330938	chr7:126635028-126635029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535858446	chr7:126635029-126635030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375599599	chr7:126635047-126635048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565235162	chr7:126635071-126635072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1114970	chr7:126635100-126635101	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
38	rs565335808	chr7:126635113-126635114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550932662	chr7:126635229-126635230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553589814	chr7:126635251-126635252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536553257	chr7:126635272-126635273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184610054	chr7:126635285-126635286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189538514	chr7:126635325-126635326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575059277	chr7:126635349-126635350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4484629	chr7:126635364-126635365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561623019	chr7:126635389-126635390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185452707	chr7:126639464-126639465	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs538147687	chr7:126639491-126639492	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370985478	chr7:126639519-126639520	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs556764504	chr7:126639524-126639525	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Attention deficit hyperactivity disorder	22138692	CNVD
Malignant melanoma	17260012	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126634200-126635400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:126645800-126646800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:126646000-126646800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:126646200-126646800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:126646200-126646800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:126646200-126647000	Enhancers	HUES64 Cell Line	embryonic stem cell

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