Variant report

Variant	esv3477523
Chromosome Location	chr7:137871944-137873581
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	ATF3	chr7:137871613-137871978	K562	blood:	n/a	n/a
2	CBX3	chr7:137872991-137873327	K562	blood:	n/a	n/a
3	CBX3	chr7:137872972-137873362	K562	blood:	n/a	n/a
4	CTCF	chr7:137872705-137872974	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr7:137871880-137872030	HCFaa	heart:	n/a	n/a
6	CTCF	chr7:137871840-137871990	HPAF	blood vessel:	n/a	n/a
7	EP300	chr7:137871420-137872316	ECC-1	luminal epithelium:	n/a	chr7:137871610-137871624 chr7:137871772-137871781
8	FOS	chr7:137871608-137871967	MCF10A-Er-Src	breast:	n/a	chr7:137871772-137871781 chr7:137871774-137871781 chr7:137871773-137871782 chr7:137871772-137871782 chr7:137871771-137871783
9	FOS	chr7:137871609-137872007	MCF10A-Er-Src	breast:	n/a	chr7:137871772-137871781 chr7:137871774-137871781 chr7:137871773-137871782 chr7:137871772-137871782 chr7:137871771-137871783
10	FOS	chr7:137871609-137871979	MCF10A-Er-Src	breast:	n/a	chr7:137871772-137871781 chr7:137871774-137871781 chr7:137871773-137871782 chr7:137871772-137871782 chr7:137871771-137871783
11	FOS	chr7:137871616-137871961	MCF10A-Er-Src	breast:	n/a	chr7:137871772-137871781 chr7:137871774-137871781 chr7:137871773-137871782 chr7:137871772-137871782 chr7:137871771-137871783
12	FOXM1	chr7:137871405-137872217	ECC-1	luminal epithelium:	n/a	n/a
13	FOXM1	chr7:137871390-137872167	ECC-1	luminal epithelium:	n/a	n/a
14	GTF2F1	chr7:137873205-137873244	H1-hESC	embryonic stem cell:	n/a	n/a
15	JUN	chr7:137871623-137872055	HUVEC	blood vessel:	n/a	chr7:137871772-137871781 chr7:137871774-137871781 chr7:137871773-137871782 chr7:137871772-137871782 chr7:137871771-137871783
16	JUN	chr7:137873159-137873337	K562	blood:	n/a	n/a
17	JUND	chr7:137871631-137871950	K562	blood:	n/a	chr7:137871772-137871781 chr7:137871774-137871781 chr7:137871773-137871782 chr7:137871772-137871782 chr7:137871771-137871783 chr7:137871771-137871782
18	JUND	chr7:137871604-137872037	HepG2	liver:	n/a	chr7:137871772-137871781 chr7:137871774-137871781 chr7:137871773-137871782 chr7:137871772-137871782 chr7:137871771-137871783 chr7:137871771-137871782
19	JUND	chr7:137871611-137872042	H1-hESC	embryonic stem cell:	n/a	chr7:137871772-137871781 chr7:137871774-137871781 chr7:137871773-137871782 chr7:137871772-137871782 chr7:137871771-137871783 chr7:137871771-137871782
20	KAP1	chr7:137873004-137873384	U2OS	brain:	n/a	n/a
21	KAP1	chr7:137872822-137873509	K562	blood:	n/a	n/a
22	KAP1	chr7:137872886-137873539	HEK293	kidney:	n/a	n/a
23	NR3C1	chr7:137871793-137872038	ECC-1	luminal epithelium:	n/a	chr7:137871945-137871962
24	NR3C1	chr7:137871746-137872113	ECC-1	luminal epithelium:	n/a	chr7:137871945-137871962
25	POLR2A	chr7:137872998-137873517	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr7:137873127-137873323	H1-hESC	embryonic stem cell:	n/a	n/a
27	SETDB1	chr7:137871576-137872135	U2OS	brain:	n/a	chr7:137871616-137871640
28	SETDB1	chr7:137873034-137873396	K562	blood:	n/a	n/a
29	SETDB1	chr7:137872803-137873610	U2OS	brain:	n/a	n/a
30	SRF	chr7:137871656-137872194	ECC-1	luminal epithelium:	n/a	n/a
31	STAT3	chr7:137871582-137872058	MCF10A-Er-Src	breast:	n/a	chr7:137871773-137871782 chr7:137871983-137871990
32	STAT3	chr7:137871514-137872040	MCF10A-Er-Src	breast:	n/a	chr7:137871773-137871782 chr7:137871983-137871990
33	STAT3	chr7:137871626-137871988	MCF10A-Er-Src	breast:	n/a	chr7:137871773-137871782
34	STAT3	chr7:137871603-137871998	MCF10A-Er-Src	breast:	n/a	chr7:137871773-137871782 chr7:137871983-137871990
35	TBP	chr7:137873187-137873462	H1-hESC	embryonic stem cell:	n/a	n/a
36	TCF12	chr7:137871547-137872120	ECC-1	luminal epithelium:	n/a	n/a
37	TEAD4	chr7:137871667-137872275	ECC-1	luminal epithelium:	n/a	n/a
38	TEAD4	chr7:137871679-137872177	ECC-1	luminal epithelium:	n/a	n/a
39	TRIM28	chr7:137872942-137873405	K562	blood:	n/a	n/a
40	ZNF143	chr7:137873112-137873347	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000201465	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560487402	chr7:137871996-137871997	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184522016	chr7:137872062-137872063	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549411167	chr7:137872085-137872086	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562561539	chr7:137872147-137872148	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189141317	chr7:137872263-137872264	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551139770	chr7:137872266-137872267	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193301144	chr7:137872306-137872307	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536427388	chr7:137872323-137872324	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571255237	chr7:137872331-137872332	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73729500	chr7:137872346-137872347	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547001025	chr7:137872362-137872363	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567209145	chr7:137872372-137872373	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535987780	chr7:137872399-137872400	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369468433	chr7:137872405-137872406	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373206893	chr7:137872409-137872410	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11461224	chr7:137872412-137872413	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113534813	chr7:137872413-137872414	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147691524	chr7:137872427-137872428	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377360077	chr7:137872428-137872429	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112278924	chr7:137872429-137872430	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576038936	chr7:137872448-137872449	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568803129	chr7:137872478-137872479	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370668109	chr7:137872551-137872552	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538329105	chr7:137872556-137872557	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377410127	chr7:137872557-137872558	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35026514	chr7:137872571-137872572	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34834107	chr7:137872575-137872576	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61311213	chr7:137872583-137872584	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558378162	chr7:137872600-137872601	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578259459	chr7:137872626-137872627	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540887781	chr7:137872682-137872683	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574853940	chr7:137872692-137872693	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573949805	chr7:137872696-137872697	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189209516	chr7:137872704-137872705	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563027532	chr7:137872708-137872709	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576387449	chr7:137872715-137872716	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367972936	chr7:137872716-137872717	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs202126813	chr7:137872717-137872718	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs58761323	chr7:137872718-137872719	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531709863	chr7:137872720-137872721	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551203241	chr7:137872776-137872777	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564698722	chr7:137872804-137872805	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73729501	chr7:137872840-137872841	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561256045	chr7:137872842-137872843	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148495190	chr7:137872850-137872851	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557209729	chr7:137872853-137872854	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536281646	chr7:137872861-137872862	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181650659	chr7:137872890-137872891	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs374658803	chr7:137873026-137873027	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs12535510	chr7:137873037-137873038	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

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
Neuroticism	17667963	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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute promyelocytic leukemia	20824076	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137869800-137873000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:137870000-137872400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:137870200-137872400	Enhancers	NH-A	brain
4	chr7:137870400-137872800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:137871000-137872200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:137871200-137872000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:137871200-137872000	Enhancers	HSMMtube	muscle
8	chr7:137871200-137872200	Enhancers	Osteobl	bone
9	chr7:137871200-137872800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:137871200-137874000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr7:137871200-137874400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr7:137871400-137872000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:137871400-137872000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:137871400-137872000	Enhancers	Brain Hippocampus Middle	brain
15	chr7:137871400-137872000	Enhancers	Brain Substantia Nigra	brain
16	chr7:137871400-137872200	Enhancers	Brain Cingulate Gyrus	brain
17	chr7:137871400-137872200	Enhancers	Brain Germinal Matrix	brain
18	chr7:137871400-137873400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr7:137871600-137872000	Enhancers	Brain Angular Gyrus	brain
20	chr7:137871600-137872200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:137871600-137873600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr7:137871600-137874400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr7:137871800-137872800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:137871800-137873600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr7:137871800-137874200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:137872000-137873200	Weak transcription	Brain Angular Gyrus	brain
27	chr7:137872200-137872400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:137872800-137873600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:137872800-137873600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:137872800-137873800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:137873200-137873400	ZNF genes & repeats	Brain Angular Gyrus	brain

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