Variant report

Variant	esv3438653
Chromosome Location	chr7:138333736-138336496
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	chr7:138334319-138334545	A549	lung:	n/a	n/a
2	CEBPB	chr7:138334329-138334593	HepG2	liver:	n/a	n/a
3	CEBPB	chr7:138334170-138334642	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr7:138334437-138334529	K562	blood:	n/a	n/a
5	CTCF	chr7:138333840-138333990	A549	lung:	n/a	n/a
6	CTCF	chr7:138333609-138333901	H1-hESC	embryonic stem cell:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
7	CTCF	chr7:138333762-138333886	GM12878	blood:	n/a	n/a
8	CTCF	chr7:138333612-138333948	K562	blood:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
9	CTCF	chr7:138333696-138333874	HepG2	liver:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
10	CTCF	chr7:138333800-138333950	NB4	blood:	n/a	n/a
11	CTCF	chr7:138333680-138333830	SK-N-SH_RA	brain:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
12	CTCF	chr7:138333720-138333870	HEK293	kidney:	n/a	n/a
13	CTCF	chr7:138333720-138333870	GM06990	blood:	n/a	n/a
14	CTCF	chr7:138333820-138333970	GM12872	blood:	n/a	n/a
15	CTCF	chr7:138333840-138333990	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr7:138333740-138333890	GM12873	blood:	n/a	n/a
17	CTCF	chr7:138333787-138333861	HepG2	liver:	n/a	n/a
18	CTCF	chr7:138333740-138333890	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr7:138333540-138334058	K562	blood:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
20	CTCF	chr7:138333720-138333870	BE2_C	brain:	n/a	n/a
21	CTCF	chr7:138333683-138333919	K562	blood:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
22	CTCF	chr7:138333644-138333901	H1-hESC	embryonic stem cell:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
23	CTCF	chr7:138333795-138333869	GM19240	blood:	n/a	n/a
24	CTCF	chr7:138333760-138333910	GM12872	blood:	n/a	n/a
25	CTCF	chr7:138333700-138333850	K562	blood:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
26	CTCF	chr7:138333700-138333850	MCF-7	breast:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
27	CTCF	chr7:138333720-138333906	K562	blood:	n/a	n/a
28	CTCF	chr7:138333779-138333830	GM19239	blood:	n/a	n/a
29	CTCF	chr7:138333720-138333870	HepG2	liver:	n/a	n/a
30	CTCF	chr7:138333749-138333849	GM12891	blood:	n/a	n/a
31	CTCF	chr7:138333700-138333850	BE2_C	brain:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
32	CTCF	chr7:138333771-138333808	GM19238	blood:	n/a	n/a
33	CTCF	chr7:138333648-138333986	K562	blood:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
34	CTCF	chr7:138333720-138333870	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr7:138333699-138333918	H1-hESC	embryonic stem cell:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
36	CTCF	chr7:138333720-138333870	GM12875	blood:	n/a	n/a
37	CTCF	chr7:138333740-138333876	MCF-7	breast:	n/a	n/a
38	CTCF	chr7:138333600-138333750	GM12870	blood:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
39	CTCF	chr7:138333800-138333950	RPTEC	kidney:	n/a	n/a
40	CTCF	chr7:138333756-138333850	MCF-7	breast:	n/a	n/a
41	CTCF	chr7:138333735-138333853	MCF-7	breast:	n/a	n/a
42	CTCF	chr7:138333732-138333871	Gliobla	brain:	n/a	n/a
43	CTCF	chr7:138333700-138333850	A549	lung:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
44	CTCF	chr7:138333740-138333891	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr7:138333680-138333830	K562	blood:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
46	CTCF	chr7:138333696-138333910	MCF-7	breast:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
47	CTCF	chr7:138333680-138333830	WERI-Rb-1	eye:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
48	CTCF	chr7:138333660-138333810	SK-N-SH_RA	brain:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
49	CTCF	chr7:138333700-138333850	Hela-S3	cervix:	n/a	chr7:138333712-138333725 chr7:138333709-138333727
50	CTCF	chr7:138333761-138333843	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138134483..138135008-chr7:138333376..138334299,2	K562	blood:

Variant related genes	Relation type
ENSG00000234658	TF binding region

Extended variants
information (count: 90 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370485628	chr7:138333738-138333739	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs374200485	chr7:138333746-138333747	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs140188327	chr7:138333769-138333770	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs143755972	chr7:138333801-138333802	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs533968380	chr7:138333811-138333812	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs151301864	chr7:138333812-138333813	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs140498059	chr7:138333818-138333819	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs150440671	chr7:138333819-138333820	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs368282576	chr7:138333820-138333821	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs370834594	chr7:138333831-138333832	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs542951871	chr7:138333859-138333860	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs145183727	chr7:138333869-138333870	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs111769712	chr7:138333880-138333881	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs374511170	chr7:138333885-138333886	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs201629281	chr7:138333916-138333917	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs1673176	chr7:138333930-138333931	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs200732872	chr7:138333932-138333933	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs568820242	chr7:138333934-138333935	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs557426980	chr7:138333935-138333936	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs78073388	chr7:138333943-138333944	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs398006548	chr7:138333944-138333945	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs113069397	chr7:138333945-138333946	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs77393031	chr7:138333946-138333947	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs527255950	chr7:138333952-138333953	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs547047387	chr7:138333954-138333955	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs77964394	chr7:138333955-138333956	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs146366547	chr7:138333991-138333992	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs549316017	chr7:138333993-138333994	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs549593750	chr7:138334010-138334011	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs201274309	chr7:138334039-138334040	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs190732587	chr7:138334064-138334065	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs575103016	chr7:138334071-138334072	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs193037642	chr7:138334095-138334096	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs538565607	chr7:138334107-138334108	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs551832041	chr7:138334164-138334165	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs567642866	chr7:138334172-138334173	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs1659796	chr7:138334187-138334188	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534316483	chr7:138334195-138334196	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs572409822	chr7:138334196-138334197	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs536547151	chr7:138334202-138334203	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs536294396	chr7:138334205-138334206	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs185390739	chr7:138334252-138334253	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs576167969	chr7:138334262-138334263	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs189965998	chr7:138334273-138334274	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs558735261	chr7:138334284-138334285	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs142881368	chr7:138334291-138334292	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs181392964	chr7:138334297-138334298	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs560551510	chr7:138334329-138334330	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs150635899	chr7:138334382-138334383	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs576490979	chr7:138334389-138334390	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138330200-138333800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:138333600-138335200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:138334000-138334800	Enhancers	Placenta	Placenta

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