Variant report

Variant	esv3341793
Chromosome Location	chr7:6529380-6531075
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:106)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:106 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:6529443-6529488	K562	blood:	n/a	n/a
2	ARID3A	chr7:6529428-6529548	HepG2	liver:	n/a	n/a
3	CBX3	chr7:6529203-6529735	K562	blood:	n/a	n/a
4	CBX3	chr7:6529219-6529703	HCT-116	colon:	n/a	n/a
5	CTCF	chr7:6529280-6529430	HRE	kidney:	n/a	n/a
6	CTCF	chr7:6529389-6529488	GM13977	blood:	n/a	n/a
7	CTCF	chr7:6529360-6529510	GM12868	blood:	n/a	n/a
8	CTCF	chr7:6529360-6529510	GM12864	blood:	n/a	n/a
9	CTCF	chr7:6529420-6529570	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr7:6529360-6529510	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr7:6529380-6529530	AG04449	skin:	n/a	n/a
12	CTCF	chr7:6529340-6529490	K562	blood:	n/a	n/a
13	CTCF	chr7:6529320-6529470	HRPEpiC	eye:	n/a	n/a
14	CTCF	chr7:6529520-6529670	GM12872	blood:	n/a	n/a
15	CTCF	chr7:6529283-6529529	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr7:6529320-6529470	GM12873	blood:	n/a	n/a
17	CTCF	chr7:6529340-6529490	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr7:6529251-6529533	HepG2	liver:	n/a	n/a
19	CTCF	chr7:6529380-6529530	GM12865	blood:	n/a	n/a
20	CTCF	chr7:6529320-6529603	K562	blood:	n/a	n/a
21	CTCF	chr7:6529392-6529508	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr7:6529400-6529550	HEK293	kidney:	n/a	n/a
23	CTCF	chr7:6529315-6529531	HepG2	liver:	n/a	n/a
24	CTCF	chr7:6529240-6529390	GM12872	blood:	n/a	n/a
25	CTCF	chr7:6529340-6529490	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr7:6529380-6529530	GM12874	blood:	n/a	n/a
27	CTCF	chr7:6529349-6529563	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr7:6529300-6529450	A549	lung:	n/a	n/a
29	CTCF	chr7:6529420-6529570	MCF-7	breast:	n/a	n/a
30	CTCF	chr7:6529356-6529519	K562	blood:	n/a	n/a
31	CTCF	chr7:6529360-6529510	Caco-2	colon:	n/a	n/a
32	CTCF	chr7:6529320-6529470	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr7:6529320-6529470	HCFaa	heart:	n/a	n/a
34	CTCF	chr7:6529340-6529490	AG04450	lung:	n/a	n/a
35	CTCF	chr7:6529360-6529510	HCT-116	colon:	n/a	n/a
36	CTCF	chr7:6529237-6529628	K562	blood:	n/a	n/a
37	CTCF	chr7:6529380-6529530	HCT-116	colon:	n/a	n/a
38	CTCF	chr7:6529380-6529530	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr7:6529340-6529490	RPTEC	kidney:	n/a	n/a
40	CTCF	chr7:6529360-6529510	HMEC	breast:	n/a	n/a
41	CTCF	chr7:6529126-6529694	A549	lung:	n/a	n/a
42	CTCF	chr7:6529440-6529590	GM12875	blood:	n/a	n/a
43	CTCF	chr7:6529360-6529510	GM12870	blood:	n/a	n/a
44	CTCF	chr7:6529380-6529530	GM12866	blood:	n/a	n/a
45	CTCF	chr7:6529380-6529530	HepG2	liver:	n/a	n/a
46	CTCF	chr7:6529240-6529390	GM12864	blood:	n/a	n/a
47	CTCF	chr7:6529340-6529490	GM12865	blood:	n/a	n/a
48	CTCF	chr7:6529360-6529510	NB4	blood:	n/a	n/a
49	CTCF	chr7:6529374-6529496	Medullo	brain:	n/a	n/a
50	CTCF	chr7:6529340-6529490	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6527568..6529479-chr7:6542425..6544621,2	MCF-7	breast:
2	chr7:6521681..6526038-chr7:6526623..6531331,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231359	TF binding region
ENSG00000136240	chromatin interactions
ENSG00000269781	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370911284	chr7:6529393-6529394	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs568573611	chr7:6529403-6529404	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs536857743	chr7:6529407-6529408	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs78163741	chr7:6529413-6529414	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs573497351	chr7:6529484-6529485	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs56239219	chr7:6529505-6529506	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs140459134	chr7:6529573-6529574	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs577300015	chr7:6529617-6529618	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs185781762	chr7:6529634-6529635	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs35535824	chr7:6529736-6529737	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs199744092	chr7:6529755-6529756	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs191629741	chr7:6529835-6529836	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs6961072	chr7:6529864-6529865	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542820053	chr7:6529865-6529866	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs560907419	chr7:6529872-6529873	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs144583815	chr7:6529873-6529874	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs183462929	chr7:6529897-6529898	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs187125785	chr7:6529904-6529905	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs4724813	chr7:6529987-6529988	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs550115009	chr7:6530015-6530016	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs191947181	chr7:6530019-6530020	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs183414910	chr7:6530037-6530038	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs142500997	chr7:6530042-6530043	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs548791500	chr7:6530107-6530108	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs551221872	chr7:6530234-6530235	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs534549503	chr7:6530237-6530238	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs150941206	chr7:6530250-6530251	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577563512	chr7:6530264-6530265	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs538262601	chr7:6530265-6530266	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs117258057	chr7:6530330-6530331	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs76637281	chr7:6530418-6530419	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs140898526	chr7:6530425-6530426	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs186552736	chr7:6530431-6530432	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs536623949	chr7:6530451-6530452	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs572946321	chr7:6530476-6530477	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs547092898	chr7:6530513-6530514	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs74830403	chr7:6530594-6530595	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs115743821	chr7:6530621-6530622	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs532247114	chr7:6530623-6530624	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs543822032	chr7:6530624-6530625	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs34906350	chr7:6530626-6530627	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs562330294	chr7:6530637-6530638	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs143218769	chr7:6530654-6530655	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs547967115	chr7:6530690-6530691	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs534747445	chr7:6530709-6530710	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs113943729	chr7:6530744-6530745	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs572715905	chr7:6530824-6530825	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs527882970	chr7:6530851-6530852	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs552772920	chr7:6530854-6530855	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs571174196	chr7:6530885-6530886	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Autism	20685689	CNVD
Intracranial arachnoid cysts	20187927	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6523800-6536600	Weak transcription	Spleen	Spleen
2	chr7:6524600-6529400	Weak transcription	Fetal Brain Female	brain
3	chr7:6527200-6536400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:6529200-6529400	ZNF genes & repeats	Esophagus	oesophagus
5	chr7:6529200-6529600	ZNF genes & repeats	Right Atrium	heart
6	chr7:6529400-6529800	ZNF genes & repeats	Fetal Brain Female	brain
7	chr7:6529400-6536800	Weak transcription	Esophagus	oesophagus
8	chr7:6529600-6542600	Weak transcription	Right Atrium	heart

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