Variant report

Variant	esv3373374
Chromosome Location	chr7:55949658-55953856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr7:55952032-55952376	HepG2	liver:	n/a	chr7:55952205-55952223
2	MAFF	chr7:55952057-55952383	K562	blood:	n/a	chr7:55952205-55952223
3	MAFK	chr7:55952132-55952304	H1-hESC	embryonic stem cell:	n/a	chr7:55952207-55952222
4	MAFK	chr7:55952039-55952382	HepG2	liver:	n/a	chr7:55952207-55952222 chr7:55952119-55952129
5	MAFK	chr7:55952084-55952320	Hela-S3	cervix:	n/a	chr7:55952207-55952222 chr7:55952119-55952129
6	MAFK	chr7:55952034-55952402	HepG2	liver:	n/a	chr7:55952207-55952222 chr7:55952119-55952129
7	MAFK	chr7:55952045-55952378	K562	blood:	n/a	chr7:55952207-55952222 chr7:55952119-55952129
8	MAFK	chr7:55952046-55952392	IMR90	lung:	n/a	chr7:55952207-55952222 chr7:55952119-55952129
9	MXI1	chr7:55952063-55952070	Hela-S3	cervix:	n/a	n/a
10	PBX3	chr7:55951522-55951701	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:55951555-55951615	HepG2	liver:	n/a	n/a
12	SUZ12	chr7:55951587-55951843	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:55951773-55951823	SK-N-SH_RA	brain:	n/a
2	chr7:55951773-55951823	HMEC	breast:	n/a
3	chr7:55951773-55951823	HCT-116	colon:	n/a
4	chr7:55951773-55951823	AG04449	skin:	fetal
5	chr7:55951773-55951823	AG04450	lung:	fetal
6	chr7:55951773-55951823	GM12878	blood:	n/a
7	chr7:55951773-55951823	A549	lung:	n/a
8	chr7:55951773-55951823	IMR90	lung:	fetal
9	chr7:55951773-55951823	MCF10A-Er-Src	breast:	n/a
10	chr7:55951773-55951823	ECC-1	luminal epithelium:	n/a
11	chr7:55951773-55951823	GM12892	blood:	n/a
12	chr7:55951773-55951823	HUVEC	blood vessel:	n/a
13	chr7:55951773-55951823	HAEpiC	amniotic membrane:	n/a
14	chr7:55951773-55951823	HL-60	blood:	n/a
15	chr7:55951773-55951823	T-47D	breast:	n/a
16	chr7:55951773-55951823	Jurkat	blood:	n/a
17	chr7:55951773-55951823	RPTEC	kidney:	n/a
18	chr7:55951773-55951823	PFSK-1	brain:	n/a
19	chr7:55951773-55951823	MCF-7	breast:	n/a
20	chr7:55951773-55951823	AG09309	skin:	n/a
21	chr7:55951773-55951823	NHDF-neo	bronchial:	n/a
22	chr7:55951773-55951823	NHBE	bronchial:	n/a
23	chr7:55951773-55951823	NB4	blood:	n/a
24	chr7:55951773-55951823	HCM	heart:	n/a
25	chr7:55951773-55951823	AG09319	gingival:	n/a
26	chr7:55951773-55951823	PANC-1	pancreas:	n/a
27	chr7:55951773-55951823	GM19239	blood:	n/a
28	chr7:55951773-55951823	AG10803	skin:	n/a
29	chr7:55951773-55951823	PrEC	prostate:	n/a
30	chr7:55951773-55951823	HepG2	liver:	n/a
31	chr7:55951773-55951823	BE2_C	brain:	n/a
32	chr7:55951773-55951823	HCPEpiC	choroid plexus:	n/a
33	chr7:55951773-55951823	GM06990	blood:	n/a
34	chr7:55951773-55951823	ovcar-3	ovarian:	n/a
35	chr7:55951773-55951823	Hepatocyte	liver:	n/a
36	chr7:55951773-55951823	HRCEpiC	kidney:	n/a
37	chr7:55951773-55951823	NH-A	brain:	n/a
38	chr7:55951773-55951823	CMK	blood:	n/a
39	chr7:55951773-55951823	HEEpiC	esophagus:	n/a
40	chr7:55951773-55951823	HIPEpiC	eye:	n/a
41	chr7:55951773-55951823	SK-N-MC	brain:	n/a
42	chr7:55951773-55951823	HCF	heart:	n/a
43	chr7:55951773-55951823	LNCaP	prostate:	n/a
44	chr7:55951773-55951823	HPAEpiC	pulmonary alveolar:	n/a
45	chr7:55951773-55951823	GM12891	blood:	n/a
46	chr7:55951773-55951823	SAEC	small airway:	n/a
47	chr7:55951773-55951823	BJ	skin:	n/a
48	chr7:55951773-55951823	SK-N-SH	brain:	n/a
49	chr7:55951773-55951823	HRE	kidney:	n/a
50	chr7:55951773-55951823	ProgFib	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:55950858..55953466-chr7:56031371..56033728,2	K562	blood:
2	chr7:55953245..55956784-chr7:55957115..55962697,6	MCF-7	breast:
3	chr7:55950610..55953482-chr7:55955166..55956775,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225018	TF binding region
ZNF713	TF binding region
ENSG00000249773	TF binding region
ENSG00000225018	CpG island
ZNF713	CpG island
ENSG00000249773	CpG island
ENSG00000178665	chromatin interactions
ENSG00000146729	chromatin interactions
ENSG00000265676	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567633597	chr7:55950666-55950667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs112792452	chr7:55950694-55950695	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs534848374	chr7:55950780-55950781	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553293377	chr7:55950811-55950812	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs537819165	chr7:55950913-55950914	Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs11761352	chr7:55950947-55950948	Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs368419911	chr7:55951010-55951011	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs557303278	chr7:55951054-55951055	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs575523335	chr7:55951060-55951061	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs189297245	chr7:55951066-55951067	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs148667479	chr7:55951074-55951075	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs77051728	chr7:55951083-55951084	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs80143525	chr7:55951084-55951085	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs561924851	chr7:55951172-55951173	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs533639362	chr7:55951231-55951232	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs573989934	chr7:55951266-55951267	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs553952822	chr7:55951270-55951271	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs371830920	chr7:55951271-55951272	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs559323463	chr7:55951303-55951304	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs373808847	chr7:55951319-55951320	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs533027351	chr7:55951324-55951325	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs145077523	chr7:55951325-55951326	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs180880492	chr7:55951336-55951337	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs183471643	chr7:55951396-55951397	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs548576075	chr7:55951480-55951481	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs567572983	chr7:55951486-55951487	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs73358437	chr7:55951492-55951493	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs569495755	chr7:55951531-55951532	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs149149718	chr7:55951536-55951537	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs536462223	chr7:55951541-55951542	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs539244365	chr7:55951564-55951565	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs557143071	chr7:55951573-55951574	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs569385681	chr7:55951584-55951585	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs556465160	chr7:55951602-55951603	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs540811526	chr7:55951608-55951609	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs576283023	chr7:55951609-55951610	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs117124133	chr7:55951683-55951684	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs188622152	chr7:55951713-55951714	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs573976996	chr7:55951725-55951726	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs181142708	chr7:55951748-55951749	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs545316171	chr7:55951749-55951750	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs558666302	chr7:55951755-55951756	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs553108478	chr7:55951766-55951767	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs374910345	chr7:55951810-55951811	ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs572443849	chr7:55951835-55951836	ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs541124359	chr7:55951858-55951859	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs567113346	chr7:55951863-55951864	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs114625086	chr7:55951888-55951889	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs545203157	chr7:55951931-55951932	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs140577054	chr7:55951965-55951966	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Glioblastoma multiforme	19115005	CNVD
Breast cancer	17142309	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:55950800-55951000	Active TSS	Spleen	Spleen
2	chr7:55951000-55951800	Weak transcription	Spleen	Spleen
3	chr7:55951800-55952000	ZNF genes & repeats	Spleen	Spleen
4	chr7:55952000-55954600	Weak transcription	Spleen	Spleen

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