Variant report

Variant	nsv508478
Chromosome Location	chr7:119112047-119127707
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	BACH1	chr7:119122299-119123000	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr7:119122424-119122604	GM12878	blood:	n/a	n/a
3	CEBPB	chr7:119112604-119113132	HCT-116	colon:	n/a	chr7:119112904-119112913 chr7:119112904-119112913 chr7:119112902-119112915 chr7:119112904-119112913 chr7:119112902-119112913 chr7:119112903-119112914 chr7:119112902-119112915 chr7:119112904-119112913
4	CEBPB	chr7:119112798-119112948	HepG2	liver:	n/a	chr7:119112904-119112913 chr7:119112904-119112913 chr7:119112902-119112915 chr7:119112904-119112913 chr7:119112902-119112913 chr7:119112903-119112914 chr7:119112902-119112915 chr7:119112904-119112913
5	CEBPB	chr7:119112600-119113033	HCT-116	colon:	n/a	chr7:119112904-119112913 chr7:119112904-119112913 chr7:119112902-119112915 chr7:119112904-119112913 chr7:119112902-119112913 chr7:119112903-119112914 chr7:119112902-119112915 chr7:119112904-119112913
6	CEBPB	chr7:119112723-119113013	A549	lung:	n/a	chr7:119112904-119112913 chr7:119112904-119112913 chr7:119112902-119112915 chr7:119112904-119112913 chr7:119112902-119112913 chr7:119112903-119112914 chr7:119112902-119112915 chr7:119112904-119112913
7	CEBPB	chr7:119112731-119113061	K562	blood:	n/a	chr7:119112904-119112913 chr7:119112904-119112913 chr7:119112902-119112915 chr7:119112904-119112913 chr7:119112902-119112913 chr7:119112903-119112914 chr7:119112902-119112915 chr7:119112904-119112913
8	CEBPB	chr7:119112667-119113038	MCF-7	breast:	n/a	chr7:119112904-119112913 chr7:119112904-119112913 chr7:119112902-119112915 chr7:119112904-119112913 chr7:119112902-119112913 chr7:119112903-119112914 chr7:119112902-119112915 chr7:119112904-119112913
9	CEBPB	chr7:119112728-119113065	IMR90	lung:	n/a	chr7:119112904-119112913 chr7:119112904-119112913 chr7:119112902-119112915 chr7:119112904-119112913 chr7:119112902-119112913 chr7:119112903-119112914 chr7:119112902-119112915 chr7:119112904-119112913
10	CEBPB	chr7:119112736-119113039	H1-hESC	embryonic stem cell:	n/a	chr7:119112904-119112913 chr7:119112904-119112913 chr7:119112902-119112915 chr7:119112904-119112913 chr7:119112902-119112913 chr7:119112903-119112914 chr7:119112902-119112915 chr7:119112904-119112913
11	CEBPB	chr7:119112634-119113091	HepG2	liver:	n/a	chr7:119112904-119112913 chr7:119112904-119112913 chr7:119112902-119112915 chr7:119112904-119112913 chr7:119112902-119112913 chr7:119112903-119112914 chr7:119112902-119112915 chr7:119112904-119112913
12	CEBPB	chr7:119112687-119113157	MCF-7	breast:	n/a	chr7:119112904-119112913 chr7:119112904-119112913 chr7:119112902-119112915 chr7:119112904-119112913 chr7:119112902-119112913 chr7:119112903-119112914 chr7:119112902-119112915 chr7:119112904-119112913
13	CTCF	chr7:119122380-119122530	GM12871	blood:	n/a	n/a
14	CTCF	chr7:119122380-119122530	HEK293	kidney:	n/a	n/a
15	CTCF	chr7:119122340-119122490	HRE	kidney:	n/a	n/a
16	CTCF	chr7:119122400-119122550	Caco-2	colon:	n/a	n/a
17	CTCF	chr7:119122340-119122490	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr7:119122340-119122490	A549	lung:	n/a	n/a
19	CTCF	chr7:119122380-119122530	HL-60	blood:	n/a	n/a
20	CTCF	chr7:119122381-119122554	GM10248	blood:	n/a	n/a
21	CTCF	chr7:119122360-119122540	A549	lung:	n/a	n/a
22	CTCF	chr7:119122380-119122530	NHEK	skin:	n/a	n/a
23	CTCF	chr7:119122170-119122608	MCF-7	breast:	n/a	n/a
24	CTCF	chr7:119122400-119122550	RPTEC	kidney:	n/a	n/a
25	CTCF	chr7:119122407-119122543	LNCaP	prostate:	n/a	n/a
26	CTCF	chr7:119122400-119122550	HCFaa	heart:	n/a	n/a
27	CTCF	chr7:119122440-119122590	GM12873	blood:	n/a	n/a
28	CTCF	chr7:119122360-119122510	HA-sp	spinal cord:	n/a	n/a
29	CTCF	chr7:119122478-119122561	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr7:119122380-119122530	GM12872	blood:	n/a	n/a
31	CTCF	chr7:119122400-119122550	SAEC	small airway:	n/a	n/a
32	CTCF	chr7:119122392-119122532	NHEK	skin:	n/a	n/a
33	CTCF	chr7:119122212-119122617	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr7:119122360-119122510	HRE	kidney:	n/a	n/a
35	CTCF	chr7:119122368-119122533	GM19240	blood:	n/a	n/a
36	CTCF	chr7:119122400-119122550	GM12874	blood:	n/a	n/a
37	CTCF	chr7:119122380-119122530	HepG2	liver:	n/a	n/a
38	CTCF	chr7:119122340-119122490	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr7:119122265-119122665	GM12878	blood:	n/a	n/a
40	CTCF	chr7:119122350-119122535	MCF-7	breast:	n/a	n/a
41	CTCF	chr7:119122420-119122570	GM12865	blood:	n/a	n/a
42	CTCF	chr7:119122321-119122544	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr7:119122358-119122584	GM12878	blood:	n/a	n/a
44	CTCF	chr7:119122400-119122550	GM12867	blood:	n/a	n/a
45	CTCF	chr7:119122120-119122270	GM12870	blood:	n/a	n/a
46	CTCF	chr7:119122400-119122550	MCF-7	breast:	n/a	n/a
47	CTCF	chr7:119122380-119122530	RPTEC	kidney:	n/a	n/a
48	CTCF	chr7:119122440-119122590	HAc	cerebellar:	n/a	n/a
49	CTCF	chr7:119122360-119122510	HCM	heart:	n/a	n/a
50	CTCF	chr7:119122088-119122138	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:119121235-119121285	T-47D	breast:	n/a
2	chr7:119121235-119121285	NHDF-neo	bronchial:	n/a
3	chr7:119121235-119121285	HIPEpiC	eye:	n/a
4	chr7:119121235-119121285	GM12891	blood:	n/a
5	chr7:119121235-119121285	AoSMC	blood vessel:	n/a
6	chr7:119121235-119121285	HCF	heart:	n/a
7	chr7:119121235-119121285	A549	lung:	n/a
8	chr7:119121235-119121285	Hela-S3	cervix:	n/a
9	chr7:119121235-119121285	HUVEC	blood vessel:	n/a
10	chr7:119121235-119121285	SAEC	small airway:	n/a
11	chr7:119121235-119121285	Hepatocyte	liver:	n/a
12	chr7:119121235-119121285	SK-N-MC	brain:	n/a
13	chr7:119121235-119121285	NHBE	bronchial:	n/a
14	chr7:119121235-119121285	HAEpiC	amniotic membrane:	n/a
15	chr7:119121235-119121285	AG10803	skin:	n/a
16	chr7:119121235-119121285	HL-60	blood:	n/a
17	chr7:119121235-119121285	HCT-116	colon:	n/a
18	chr7:119121235-119121285	IMR90	lung:	fetal
19	chr7:119121235-119121285	NT2-D1	testis:	n/a
20	chr7:119121235-119121285	CMK	blood:	n/a
21	chr7:119121235-119121285	HCPEpiC	choroid plexus:	n/a
22	chr7:119121235-119121285	SK-N-SH_RA	brain:	n/a
23	chr7:119121235-119121285	GM12892	blood:	n/a
24	chr7:119121235-119121285	LNCaP	prostate:	n/a
25	chr7:119121235-119121285	PrEC	prostate:	n/a
26	chr7:119121235-119121285	HPAEpiC	pulmonary alveolar:	n/a
27	chr7:119121235-119121285	BE2_C	brain:	n/a
28	chr7:119121235-119121285	PFSK-1	brain:	n/a
29	chr7:119121235-119121285	RPTEC	kidney:	n/a
30	chr7:119121235-119121285	HRE	kidney:	n/a
31	chr7:119121235-119121285	PANC-1	pancreas:	n/a
32	chr7:119121235-119121285	NB4	blood:	n/a
33	chr7:119121235-119121285	HRCEpiC	kidney:	n/a
34	chr7:119121235-119121285	AG04449	skin:	fetal
35	chr7:119121235-119121285	ovcar-3	ovarian:	n/a
36	chr7:119121235-119121285	K562	blood:	n/a
37	chr7:119121235-119121285	AG09319	gingival:	n/a
38	chr7:119121235-119121285	ECC-1	luminal epithelium:	n/a
39	chr7:119121235-119121285	HMEC	breast:	n/a
40	chr7:119121235-119121285	GM06990	blood:	n/a
41	chr7:119121235-119121285	GM19239	blood:	n/a
42	chr7:119121235-119121285	Caco-2	colon:	n/a
43	chr7:119121235-119121285	HNPCEpiC	eye:	n/a
44	chr7:119121235-119121285	HCM	heart:	n/a
45	chr7:119121235-119121285	BJ	skin:	n/a
46	chr7:119121235-119121285	MCF10A-Er-Src	breast:	n/a
47	chr7:119121235-119121285	HEEpiC	esophagus:	n/a
48	chr7:119121235-119121285	AG09309	skin:	n/a
49	chr7:119121235-119121285	H1-hESC	embryonic stem cell:	embryo
50	chr7:119121235-119121285	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:119119681..119121337-chr7:119126080..119128108,2	K562	blood:
2	chr7:119119681..119121337-chr7:119126080..119128108,2	K562	blood:
3	chr7:119114137..119115777-chr7:119118248..119120055,2	K562	blood:
4	chr7:119090133..119091662-chr7:119125393..119128092,2	K562	blood:
5	chr7:119119277..119121222-chr7:119136610..119138824,2	K562	blood:
6	chr7:119114137..119115777-chr7:119118248..119120055,2	K562	blood:

Variant related genes	Relation type
ENSG00000263692	TF binding region
ENSG00000263692	CpG island

Extended variants
information (count: 242 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561635739	chr7:119112436-119112437	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs527594623	chr7:119112445-119112446	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs139321573	chr7:119112456-119112457	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570626315	chr7:119112524-119112525	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs184199177	chr7:119112547-119112548	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs144134676	chr7:119112566-119112567	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs28433446	chr7:119112584-119112585	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113700143	chr7:119112601-119112602	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs555832314	chr7:119112684-119112685	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs572750170	chr7:119112718-119112719	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs188517848	chr7:119112725-119112726	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs139244599	chr7:119112731-119112732	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs539033792	chr7:119112733-119112734	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs114321934	chr7:119112745-119112746	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs1385376	chr7:119112784-119112785	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs149995922	chr7:119112865-119112866	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs372428381	chr7:119112876-119112877	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs555770575	chr7:119112974-119112975	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs113508097	chr7:119112989-119112990	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs112874748	chr7:119113003-119113004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192942183	chr7:119113010-119113011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564008156	chr7:119113058-119113059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374229996	chr7:119113069-119113070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570949720	chr7:119113095-119113096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575705689	chr7:119113107-119113108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377274073	chr7:119113111-119113112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185434619	chr7:119113119-119113120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190355447	chr7:119113123-119113124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192339449	chr7:119117698-119117699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532857600	chr7:119117725-119117726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546054025	chr7:119117736-119117737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563103858	chr7:119117743-119117744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71567402	chr7:119117751-119117752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555430602	chr7:119117764-119117765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115910320	chr7:119117775-119117776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550683372	chr7:119117791-119117792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79895965	chr7:119117792-119117793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567412451	chr7:119117838-119117839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529690754	chr7:119117929-119117930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368238017	chr7:119117931-119117932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546606637	chr7:119118000-119118001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184762291	chr7:119118017-119118018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372974104	chr7:119118075-119118076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538944493	chr7:119118219-119118220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558420283	chr7:119118223-119118224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201097048	chr7:119118310-119118311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568720776	chr7:119118311-119118312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75400429	chr7:119118339-119118340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554621680	chr7:119118360-119118361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541590915	chr7:119118370-119118371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119112400-119112600	Active TSS	Liver	Liver
2	chr7:119112400-119112600	Enhancers	Fetal Intestine Large	intestine
3	chr7:119112400-119112800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:119112600-119112800	Flanking Active TSS	Liver	Liver
5	chr7:119112600-119112800	Enhancers	Pancreas	Pancrea
6	chr7:119112600-119113000	Flanking Active TSS	Fetal Intestine Large	intestine
7	chr7:119112600-119113000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr7:119112800-119113000	Enhancers	Liver	Liver
9	chr7:119113000-119113200	Enhancers	Fetal Intestine Large	intestine
10	chr7:119117600-119118000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:119118000-119122200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:119120800-119121200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:119122000-119122400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:119122000-119122400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:119122000-119123000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr7:119122000-119123600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:119122200-119122400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:119122200-119122800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr7:119122200-119123000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr7:119122200-119123000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:119122200-119123000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:119122200-119123000	Enhancers	Liver	Liver
23	chr7:119122200-119123200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:119123000-119123400	Weak transcription	H9 Cell Line	embryonic stem cell

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