Variant report

Variant	esv3376821
Chromosome Location	chr7:53091792-53105190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:732)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:53101896-53102047	IMR90	lung:	n/a	n/a
2	E2F6	chr7:53103207-53103394	K562	blood:	n/a	n/a
3	FOXA2	chr7:53099262-53099883	A549	lung:	n/a	n/a
4	FOXA2	chr7:53099343-53099706	A549	lung:	n/a	n/a
5	GATA3	chr7:53101772-53102099	SH-SY5Y	brain:	n/a	n/a
6	HA-E2F1	chr7:53099499-53100195	MCF-7	breast:	n/a	n/a
7	MYC	chr7:53099788-53099796	MCF-7	breast:	n/a	n/a
8	MYC	chr7:53099798-53099905	MCF-7	breast:	n/a	n/a
9	NANOG	chr7:53099505-53099722	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:53103292-53103312	MCF-7	breast:	n/a	n/a
11	POLR2A	chr7:53099718-53099745	MCF-7	breast:	n/a	n/a
12	POLR2A	chr7:53099349-53099857	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr7:53099596-53099691	MCF-7	breast:	n/a	n/a
14	POLR2A	chr7:53099647-53099673	MCF-7	breast:	n/a	n/a
15	POLR2A	chr7:53103288-53103413	MCF-7	breast:	n/a	n/a
16	POLR2A	chr7:53103426-53103434	MCF-7	breast:	n/a	n/a
17	REST	chr7:53098994-53099082	HepG2	liver:	n/a	n/a
18	SPI1	chr7:53095826-53095986	GM12891	blood:	n/a	n/a
19	SPI1	chr7:53095854-53095972	K562	blood:	n/a	n/a
20	TAF1	chr7:53099493-53099857	H1-hESC	embryonic stem cell:	n/a	n/a
21	YY1	chr7:53099539-53099633	K562	blood:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:53103576-53103626	AG09319	gingival:	n/a
2	chr7:53099739-53099789	Caco-2	colon:	n/a
3	chr7:53103576-53103626	RPTEC	kidney:	n/a
4	chr7:53103312-53103362	NB4	blood:	n/a
5	chr7:53103312-53103362	HCT-116	colon:	n/a
6	chr7:53103310-53103360	GM06990	blood:	n/a
7	chr7:53103789-53103839	SAEC	small airway:	n/a
8	chr7:53103576-53103626	U87	brain:	n/a
9	chr7:53103310-53103360	NT2-D1	testis:	n/a
10	chr7:53103214-53103264	AoSMC	blood vessel:	n/a
11	chr7:53103285-53103335	Hela-S3	cervix:	n/a
12	chr7:53103576-53103626	HCPEpiC	choroid plexus:	n/a
13	chr7:53099739-53099789	HCPEpiC	choroid plexus:	n/a
14	chr7:53103287-53103337	HEEpiC	esophagus:	n/a
15	chr7:53099739-53099789	Hepatocyte	liver:	n/a
16	chr7:53099739-53099789	AG04449	skin:	fetal
17	chr7:53103310-53103360	GM12878	blood:	n/a
18	chr7:53103285-53103335	IMR90	lung:	fetal
19	chr7:53102694-53102744	H1-hESC	embryonic stem cell:	embryo
20	chr7:53099739-53099789	HCM	heart:	n/a
21	chr7:53102721-53102771	U87	brain:	n/a
22	chr7:53099739-53099789	HCF	heart:	n/a
23	chr7:53103214-53103264	HEEpiC	esophagus:	n/a
24	chr7:53103287-53103337	AoSMC	blood vessel:	n/a
25	chr7:53103789-53103839	HUVEC	blood vessel:	n/a
26	chr7:53103789-53103839	HCF	heart:	n/a
27	chr7:53102694-53102744	HPAEpiC	pulmonary alveolar:	n/a
28	chr7:53103576-53103626	SK-N-MC	brain:	n/a
29	chr7:53103576-53103626	BE2_C	brain:	n/a
30	chr7:53102694-53102744	RPTEC	kidney:	n/a
31	chr7:53103285-53103335	SK-N-MC	brain:	n/a
32	chr7:53099739-53099789	SK-N-SH_RA	brain:	n/a
33	chr7:53099739-53099789	BJ	skin:	n/a
34	chr7:53104001-53104051	ovcar-3	ovarian:	n/a
35	chr7:53103310-53103360	A549	lung:	n/a
36	chr7:53103285-53103335	MCF-7	breast:	n/a
37	chr7:53102721-53102771	HCM	heart:	n/a
38	chr7:53103789-53103839	SKMC	muscle:	n/a
39	chr7:53102694-53102744	SKMC	muscle:	n/a
40	chr7:53102721-53102771	RPTEC	kidney:	n/a
41	chr7:53103789-53103839	CMK	blood:	n/a
42	chr7:53103312-53103362	HAEpiC	amniotic membrane:	n/a
43	chr7:53099739-53099789	IMR90	lung:	fetal
44	chr7:53102721-53102771	GM12891	blood:	n/a
45	chr7:53103789-53103839	HRPEpiC	eye:	n/a
46	chr7:53102721-53102771	HRPEpiC	eye:	n/a
47	chr7:53104336-53104386	GM12891	blood:	n/a
48	chr7:53104336-53104386	GM19239	blood:	n/a
49	chr7:53099739-53099789	HUVEC	blood vessel:	n/a
50	chr7:53103214-53103264	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:53099169..53101604-chr7:53102398..53104340,2	MCF-7	breast:
2	chr7:53104943..53106770-chr7:53108333..53110312,2	K562	blood:

No data

Variant related genes	Relation type
POM121L12	TF binding region
POM121L12	CpG island
ENSG00000221900	chromatin interactions

Extended variants
information (count: 291 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73698757	chr7:53091800-53091801	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77586813	chr7:53091820-53091821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558414217	chr7:53091827-53091828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143804507	chr7:53091869-53091870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540797352	chr7:53091927-53091928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538326856	chr7:53091960-53091961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11769601	chr7:53091962-53091963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs79712775	chr7:53091968-53091969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543051465	chr7:53091992-53091993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563345121	chr7:53091994-53091995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554125914	chr7:53099033-53099034	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs138852070	chr7:53099053-53099054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs544739179	chr7:53099170-53099171	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201101386	chr7:53099270-53099271	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs564616807	chr7:53099304-53099305	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs9690488	chr7:53099323-53099324	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs368690356	chr7:53099331-53099332	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs540581367	chr7:53099344-53099345	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs369250232	chr7:53099353-53099354	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs529636986	chr7:53099365-53099366	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200217219	chr7:53099375-53099376	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs201386096	chr7:53099386-53099387	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs376104666	chr7:53099387-53099388	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs549402590	chr7:53099419-53099420	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs569469355	chr7:53099524-53099525	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs531919127	chr7:53099555-53099556	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs551925435	chr7:53099556-53099557	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs188210107	chr7:53099582-53099583	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs60392084	chr7:53099593-53099594	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs397960428	chr7:53099594-53099595	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs111519597	chr7:53099595-53099596	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs112457298	chr7:53099602-53099603	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs71033262	chr7:53099606-53099607	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs9691241	chr7:53099615-53099616	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs534195263	chr7:53099657-53099658	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs554088746	chr7:53099659-53099660	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs543282840	chr7:53099660-53099661	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs374267328	chr7:53099667-53099668	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs184436117	chr7:53099678-53099679	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs74992167	chr7:53099688-53099689	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs75930258	chr7:53099703-53099704	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs78356041	chr7:53099711-53099712	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs576217115	chr7:53099713-53099714	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs189134086	chr7:53099720-53099721	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs192385202	chr7:53099721-53099722	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs372021417	chr7:53099724-53099725	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs571759775	chr7:53099739-53099740	Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs147909730	chr7:53099747-53099748	Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs532166032	chr7:53099748-53099749	Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs376376190	chr7:53099757-53099758	Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cognitive impairment	21505072	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53091600-53092000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr7:53099600-53100000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:53099600-53100000	Active TSS	Placenta	Placenta
4	chr7:53099600-53100200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:53099600-53100200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:53099600-53100200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:53099800-53100400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr7:53103400-53103800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:53103400-53104000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:53104000-53104200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:53104200-53104400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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