Variant report

Variant	esv3477973
Chromosome Location	chr7:51081662-51081738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr7:51081631-51081872	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:51080818-51084697	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:51081619-51082800	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:51081616-51081666	A549	lung:	n/a
2	chr7:51081616-51081666	HPAEpiC	pulmonary alveolar:	n/a
3	chr7:51081616-51081666	HRPEpiC	eye:	n/a
4	chr7:51081616-51081666	SK-N-SH	brain:	n/a
5	chr7:51081616-51081666	AoSMC	blood vessel:	n/a
6	chr7:51081616-51081666	RPTEC	kidney:	n/a
7	chr7:51081616-51081666	HCPEpiC	choroid plexus:	n/a
8	chr7:51081616-51081666	NT2-D1	testis:	n/a
9	chr7:51081616-51081666	HAEpiC	amniotic membrane:	n/a
10	chr7:51081616-51081666	BE2_C	brain:	n/a
11	chr7:51081616-51081666	SK-N-SH_RA	brain:	n/a
12	chr7:51081616-51081666	HEEpiC	esophagus:	n/a
13	chr7:51081616-51081666	AG04450	lung:	fetal
14	chr7:51081616-51081666	K562	blood:	n/a
15	chr7:51081616-51081666	HIPEpiC	eye:	n/a
16	chr7:51081616-51081666	AG04449	skin:	fetal
17	chr7:51081616-51081666	MCF10A-Er-Src	breast:	n/a
18	chr7:51081616-51081666	BJ	skin:	n/a
19	chr7:51081616-51081666	Hepatocyte	liver:	n/a
20	chr7:51081616-51081666	PrEC	prostate:	n/a
21	chr7:51081616-51081666	NHBE	bronchial:	n/a
22	chr7:51081616-51081666	NHDF-neo	bronchial:	n/a
23	chr7:51081616-51081666	IMR90	lung:	fetal
24	chr7:51081616-51081666	AG10803	skin:	n/a
25	chr7:51081616-51081666	MCF-7	breast:	n/a
26	chr7:51081616-51081666	Hela-S3	cervix:	n/a
27	chr7:51081616-51081666	HRCEpiC	kidney:	n/a
28	chr7:51081616-51081666	PFSK-1	brain:	n/a
29	chr7:51081616-51081666	AG09319	gingival:	n/a
30	chr7:51081616-51081666	CMK	blood:	n/a
31	chr7:51081616-51081666	GM06990	blood:	n/a
32	chr7:51081616-51081666	HMEC	breast:	n/a
33	chr7:51081616-51081666	T-47D	breast:	n/a
34	chr7:51081616-51081666	HUVEC	blood vessel:	n/a
35	chr7:51081616-51081666	ovcar-3	ovarian:	n/a
36	chr7:51081616-51081666	GM19239	blood:	n/a
37	chr7:51081616-51081666	GM12878	blood:	n/a
38	chr7:51081616-51081666	HL-60	blood:	n/a
39	chr7:51081616-51081666	HEK293	kidney:	embryo
40	chr7:51081616-51081666	SK-N-MC	brain:	n/a
41	chr7:51081616-51081666	SAEC	small airway:	n/a
42	chr7:51081616-51081666	Caco-2	colon:	n/a
43	chr7:51081616-51081666	LNCaP	prostate:	n/a
44	chr7:51081616-51081666	ProgFib	skin:	n/a
45	chr7:51081616-51081666	HCT-116	colon:	n/a
46	chr7:51081616-51081666	Jurkat	blood:	n/a
47	chr7:51081616-51081666	ECC-1	luminal epithelium:	n/a
48	chr7:51081616-51081666	GM12892	blood:	n/a
49	chr7:51081616-51081666	SKMC	muscle:	n/a
50	chr7:51081616-51081666	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:51079705..51082657-chr7:51083571..51086841,4	K562	blood:
2	chr7:51074031..51076434-chr7:51079718..51082279,2	K562	blood:
3	chr7:51081708..51083212-chr7:51084759..51087438,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228204	TF binding region
ENSG00000228204	CpG island
ENSG00000228204	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368464944	chr7:51081665-51081666	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs375537003	chr7:51081676-51081677	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs113364585	chr7:51081677-51081678	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs111385864	chr7:51081678-51081679	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs62448277	chr7:51081688-51081689	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs11760981	chr7:51081702-51081703	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs191472687	chr7:51081721-51081722	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371225692	chr7:51081724-51081725	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553693011	chr7:51081729-51081730	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372647152	chr7:51081733-51081734	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	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
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
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:51077000-51083200	Enhancers	Fetal Heart	heart
2	chr7:51077400-51082600	Enhancers	Right Ventricle	heart
3	chr7:51078000-51089600	Weak transcription	Gastric	stomach
4	chr7:51078200-51087200	Weak transcription	Lung	lung
5	chr7:51078200-51092200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:51078200-51094800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:51078200-51095000	Weak transcription	Hela-S3	cervix
8	chr7:51078800-51092000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:51079800-51088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:51080400-51086800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:51081200-51082800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:51081200-51082800	Enhancers	Pancreas	Pancrea
13	chr7:51081400-51089600	Weak transcription	Right Atrium	heart
14	chr7:51081400-51092200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:51081600-51081800	Enhancers	Left Ventricle	heart
16	chr7:51081600-51083200	Weak transcription	Fetal Intestine Small	intestine

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