Variant report

Variant	esv1806893
Chromosome Location	chr7:118093537-118160303
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	CBX3	chr7:118121291-118121673	K562	blood:	n/a	n/a
2	CEBPB	chr7:118102849-118103117	HepG2	liver:	n/a	chr7:118102943-118102954
3	CEBPB	chr7:118102908-118103052	K562	blood:	n/a	chr7:118102943-118102954
4	CEBPB	chr7:118118707-118118968	HepG2	liver:	n/a	chr7:118118794-118118805
5	CEBPB	chr7:118157947-118158188	HepG2	liver:	n/a	chr7:118158039-118158050 chr7:118158037-118158050 chr7:118158037-118158048
6	CEBPB	chr7:118157869-118158117	K562	blood:	n/a	chr7:118158039-118158050 chr7:118158037-118158050 chr7:118158037-118158048
7	CEBPB	chr7:118118651-118118956	IMR90	lung:	n/a	chr7:118118794-118118805
8	CEBPB	chr7:118118740-118118930	H1-hESC	embryonic stem cell:	n/a	chr7:118118794-118118805
9	CEBPB	chr7:118118721-118118929	K562	blood:	n/a	chr7:118118794-118118805
10	CTCF	chr7:118147120-118147270	HEK293	kidney:	n/a	n/a
11	CTCF	chr7:118127554-118127655	LNCaP	prostate:	n/a	n/a
12	CTCF	chr7:118147060-118147210	HMEC	breast:	n/a	n/a
13	CTCF	chr7:118147150-118147228	GM12878	blood:	n/a	n/a
14	CTCF	chr7:118121538-118121558	GM10266	blood:	n/a	n/a
15	CTCF	chr7:118139063-118139122	GM20000	blood:	n/a	n/a
16	EP300	chr7:118136336-118136616	SK-N-SH_RA	brain:	n/a	n/a
17	EP300	chr7:118136279-118136613	SK-N-SH_RA	brain:	n/a	n/a
18	FAM48A	chr7:118149651-118149812	GM12878	blood:	n/a	n/a
19	FOS	chr7:118121842-118121858	MCF10A-Er-Src	breast:	n/a	n/a
20	FOXP2	chr7:118136319-118136524	SK-N-MC	brain:	n/a	n/a
21	FOXP2	chr7:118129930-118130230	SK-N-MC	brain:	n/a	n/a
22	FOXP2	chr7:118116274-118116669	SK-N-MC	brain:	n/a	n/a
23	GATA2	chr7:118102607-118103050	SH-SY5Y	brain:	n/a	chr7:118102838-118102848 chr7:118102838-118102847 chr7:118102837-118102849 chr7:118102840-118102847 chr7:118102835-118102851
24	GATA3	chr7:118105124-118105324	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr7:118102645-118103030	SH-SY5Y	brain:	n/a	chr7:118102838-118102848 chr7:118102838-118102847 chr7:118102837-118102849 chr7:118102840-118102847 chr7:118102835-118102851
26	GATA3	chr7:118140751-118140755	SH-SY5Y	brain:	n/a	n/a
27	GATA3	chr7:118136376-118136538	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr7:118125129-118125298	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr7:118147104-118147268	SH-SY5Y	brain:	n/a	chr7:118147183-118147193 chr7:118147184-118147196 chr7:118147186-118147193
30	IRF1	chr7:118148353-118148371	K562	blood:	n/a	n/a
31	IRF1	chr7:118146468-118146614	K562	blood:	n/a	n/a
32	JUN	chr7:118101830-118102099	HepG2	liver:	n/a	chr7:118101976-118101989
33	JUN	chr7:118138064-118138186	K562	blood:	n/a	n/a
34	JUND	chr7:118112703-118112868	HepG2	liver:	n/a	chr7:118112832-118112844 chr7:118112832-118112843 chr7:118112834-118112842
35	JUND	chr7:118136367-118136373	H1-hESC	embryonic stem cell:	n/a	n/a
36	JUND	chr7:118101821-118102158	HepG2	liver:	n/a	n/a
37	KAP1	chr7:118121271-118121683	HEK293	kidney:	n/a	n/a
38	KAP1	chr7:118121333-118121696	K562	blood:	n/a	n/a
39	KAP1	chr7:118110425-118110624	K562	blood:	n/a	n/a
40	MAFF	chr7:118112674-118112906	K562	blood:	n/a	chr7:118112825-118112843
41	MAFF	chr7:118116127-118116462	K562	blood:	n/a	chr7:118116276-118116294
42	MAFF	chr7:118136265-118136567	K562	blood:	n/a	chr7:118136389-118136403 chr7:118136383-118136401
43	MAFF	chr7:118116137-118116455	HepG2	liver:	n/a	chr7:118116276-118116294
44	MAFF	chr7:118136264-118136572	HepG2	liver:	n/a	chr7:118136389-118136403 chr7:118136383-118136401
45	MAFF	chr7:118112653-118112989	HepG2	liver:	n/a	chr7:118112825-118112843
46	MAFK	chr7:118112665-118112991	IMR90	lung:	n/a	chr7:118112832-118112842 chr7:118112827-118112842 chr7:118112832-118112841
47	MAFK	chr7:118112766-118112868	K562	blood:	n/a	chr7:118112832-118112842 chr7:118112827-118112842 chr7:118112832-118112841
48	MAFK	chr7:118112679-118112995	HepG2	liver:	n/a	chr7:118112832-118112842 chr7:118112827-118112842 chr7:118112832-118112841
49	MAFK	chr7:118129495-118129692	HepG2	liver:	n/a	chr7:118129618-118129635
50	MAFK	chr7:118136289-118136509	K562	blood:	n/a	chr7:118136385-118136400 chr7:118136389-118136403 chr7:118136386-118136406 chr7:118136388-118136404

No.	Distal block	Cell Line	Cell type
1	chr7:118093376..118094985-chr7:118098864..118100577,2	K562	blood:
2	chr7:118140754..118143733-chr7:118144595..118146815,2	K562	blood:
3	chr7:118094852..118097400-chr7:118111770..118114661,2	K562	blood:
4	chr7:118103032..118104832-chr7:118107193..118108816,2	K562	blood:
5	chr7:118103032..118104832-chr7:118107193..118108816,2	K562	blood:
6	chr7:118094852..118097400-chr7:118111770..118114661,2	K562	blood:
7	chr7:118134734..118137695-chr7:118137994..118140423,2	K562	blood:
8	chr7:118098838..118101158-chr7:118104567..118106399,2	K562	blood:
9	chr7:118140754..118143733-chr7:118144595..118146815,2	K562	blood:
10	chr7:118115547..118117412-chr7:118338324..118340087,2	K562	blood:
11	chr7:118088557..118090123-chr7:118090834..118093671,2	K562	blood:
12	chr7:118093376..118097334-chr7:118098069..118100577,4	K562	blood:
13	chr7:118126613..118129053-chr7:118300054..118302327,2	K562	blood:
14	chr7:118098838..118101158-chr7:118104567..118106399,2	K562	blood:
15	chr7:118134734..118137695-chr7:118137994..118140423,2	K562	blood:
16	chr7:118093376..118097334-chr7:118098069..118100577,4	K562	blood:
17	chr7:118093376..118094985-chr7:118098864..118100577,2	K562	blood:

Variant related genes	Relation type
ENSG00000222226	TF binding region

Extended variants
information (count: 413 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10240680	chr7:118099926-118099927	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371555773	chr7:118099927-118099928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs560639515	chr7:118099932-118099933	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs881802	chr7:118099945-118099946	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs574186117	chr7:118101913-118101914	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs548337931	chr7:118101944-118101945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs145651883	chr7:118101960-118101961	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs184462966	chr7:118101965-118101966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs567268953	chr7:118101983-118101984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs148908240	chr7:118102085-118102086	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs189996119	chr7:118102105-118102106	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs563661885	chr7:118102131-118102132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs80287281	chr7:118102143-118102144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs551585321	chr7:118107404-118107405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17141394	chr7:118107421-118107422	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs537138728	chr7:118107444-118107445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150516008	chr7:118107450-118107451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369347356	chr7:118107467-118107468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188432554	chr7:118107506-118107507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139498515	chr7:118107513-118107514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149274171	chr7:118107523-118107524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144523563	chr7:118107530-118107531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570355185	chr7:118107532-118107533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546031063	chr7:118107562-118107563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535825655	chr7:118107574-118107575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12533010	chr7:118107610-118107611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372538887	chr7:118107615-118107616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369805521	chr7:118107629-118107630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs16870238	chr7:118107664-118107665	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562007786	chr7:118107680-118107681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34985280	chr7:118107698-118107699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559079864	chr7:118107699-118107700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs398048035	chr7:118107710-118107711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377529344	chr7:118107721-118107722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111792793	chr7:118107744-118107745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529310143	chr7:118107750-118107751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543843603	chr7:118107757-118107758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549866180	chr7:118107772-118107773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541046272	chr7:118107787-118107788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368414012	chr7:118107818-118107819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559634842	chr7:118107862-118107863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117552549	chr7:118107864-118107865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180941705	chr7:118107868-118107869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569774512	chr7:118107871-118107872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569868700	chr7:118107872-118107873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530681515	chr7:118107876-118107877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144144973	chr7:118107880-118107881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34273845	chr7:118107888-118107889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567219810	chr7:118107947-118107948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534639533	chr7:118107969-118107970	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118107400-118108400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:118113400-118113600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:118117000-118120400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:118132600-118133000	Active TSS	Stomach Smooth Muscle	stomach
5	chr7:118132600-118133800	Enhancers	Fetal Brain Male	brain
6	chr7:118142000-118142200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:118142200-118142400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:118142400-118142600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:118142400-118142800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:118150600-118151000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:118151000-118151400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr7:118151000-118151600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:118151000-118151600	Enhancers	Brain Hippocampus Middle	brain
14	chr7:118151600-118152600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:118156000-118158000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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