Variant report

Variant	esv3477418
Chromosome Location	chr7:100326216-100331314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:183)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:100328040-100328372	HepG2	liver:	n/a	chr7:100328193-100328204
2	CEBPB	chr7:100328044-100328375	HepG2	liver:	n/a	chr7:100328193-100328204
3	CEBPB	chr7:100328099-100328290	IMR90	lung:	n/a	chr7:100328193-100328204
4	CEBPB	chr7:100328048-100328277	K562	blood:	n/a	chr7:100328193-100328204
5	CEBPB	chr7:100328137-100328308	Hela-S3	cervix:	n/a	chr7:100328193-100328204
6	CEBPB	chr7:100328148-100328292	A549	lung:	n/a	chr7:100328193-100328204
7	CEBPD	chr7:100328091-100328340	HepG2	liver:	n/a	n/a
8	CTCF	chr7:100329480-100329513	GM13976	blood:	n/a	n/a
9	FAM48A	chr7:100328354-100328449	GM12878	blood:	n/a	n/a
10	PAX5	chr7:100329892-100330334	GM12891	blood:	n/a	n/a
11	POLR2A	chr7:100329493-100329614	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:100329481-100329606	H1-hESC	embryonic stem cell:	n/a	n/a
13	SP1	chr7:100329335-100329646	HepG2	liver:	n/a	n/a
14	ZBTB7A	chr7:100328037-100328215	HepG2	liver:	n/a	n/a
15	ZNF384	chr7:100330766-100330914	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100330587-100330637	HMEC	breast:	n/a
2	chr7:100330587-100330637	AG04450	lung:	fetal
3	chr7:100330109-100330159	BE2_C	brain:	n/a
4	chr7:100330587-100330637	PFSK-1	brain:	n/a
5	chr7:100330109-100330159	GM12891	blood:	n/a
6	chr7:100330872-100330922	GM19239	blood:	n/a
7	chr7:100330872-100330922	HIPEpiC	eye:	n/a
8	chr7:100330587-100330637	Caco-2	colon:	n/a
9	chr7:100330587-100330637	ovcar-3	ovarian:	n/a
10	chr7:100330587-100330637	HCM	heart:	n/a
11	chr7:100330109-100330159	HNPCEpiC	eye:	n/a
12	chr7:100330109-100330159	ovcar-3	ovarian:	n/a
13	chr7:100330109-100330159	HL-60	blood:	n/a
14	chr7:100330109-100330159	GM19239	blood:	n/a
15	chr7:100330587-100330637	HCPEpiC	choroid plexus:	n/a
16	chr7:100330587-100330637	HEEpiC	esophagus:	n/a
17	chr7:100330587-100330637	T-47D	breast:	n/a
18	chr7:100330109-100330159	AG09319	gingival:	n/a
19	chr7:100330872-100330922	HEEpiC	esophagus:	n/a
20	chr7:100330109-100330159	HRCEpiC	kidney:	n/a
21	chr7:100330587-100330637	MCF10A-Er-Src	breast:	n/a
22	chr7:100330587-100330637	HRE	kidney:	n/a
23	chr7:100330587-100330637	HUVEC	blood vessel:	n/a
24	chr7:100330872-100330922	MCF10A-Er-Src	breast:	n/a
25	chr7:100330587-100330637	IMR90	lung:	fetal
26	chr7:100330587-100330637	HEK293	kidney:	embryo
27	chr7:100330109-100330159	SKMC	muscle:	n/a
28	chr7:100330109-100330159	AG10803	skin:	n/a
29	chr7:100330872-100330922	A549	lung:	n/a
30	chr7:100330872-100330922	GM12878	blood:	n/a
31	chr7:100330109-100330159	SK-N-SH_RA	brain:	n/a
32	chr7:100330587-100330637	GM12878	blood:	n/a
33	chr7:100330587-100330637	HL-60	blood:	n/a
34	chr7:100330109-100330159	ECC-1	luminal epithelium:	n/a
35	chr7:100330109-100330159	LNCaP	prostate:	n/a
36	chr7:100330587-100330637	HPAEpiC	pulmonary alveolar:	n/a
37	chr7:100330872-100330922	SAEC	small airway:	n/a
38	chr7:100330872-100330922	H1-hESC	embryonic stem cell:	embryo
39	chr7:100330109-100330159	CMK	blood:	n/a
40	chr7:100330587-100330637	Hela-S3	cervix:	n/a
41	chr7:100330109-100330159	HepG2	liver:	n/a
42	chr7:100330872-100330922	ovcar-3	ovarian:	n/a
43	chr7:100330587-100330637	LNCaP	prostate:	n/a
44	chr7:100330109-100330159	SK-N-SH	brain:	n/a
45	chr7:100330872-100330922	HepG2	liver:	n/a
46	chr7:100330872-100330922	NH-A	brain:	n/a
47	chr7:100330872-100330922	AG04450	lung:	fetal
48	chr7:100330587-100330637	U87	brain:	n/a
49	chr7:100330872-100330922	Hepatocyte	liver:	n/a
50	chr7:100330587-100330637	SK-N-SH	brain:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100181969..100184766-chr7:100322000..100326304,4	MCF-7	breast:
2	chr7:100326112..100327796-chr7:100392464..100395372,2	MCF-7	breast:
3	chr7:100317007..100319008-chr7:100325168..100326733,2	K562	blood:
4	chr7:100325203..100328007-chr7:100356386..100357913,2	K562	blood:
5	chr7:100324153..100326301-chr7:100361628..100364421,2	K562	blood:

No data

Variant related genes	Relation type
ZAN	TF binding region
ZAN	CpG island
ENSG00000130427	chromatin interactions
ENSG00000106336	chromatin interactions
ENSG00000077454	chromatin interactions

Extended variants
information (count: 188 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531213259	chr7:100326222-100326223	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs374962131	chr7:100326238-100326239	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs546213353	chr7:100326267-100326268	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs116584510	chr7:100326273-100326274	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs74299683	chr7:100326315-100326316	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs56394908	chr7:100326356-100326357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547220058	chr7:100326370-100326371	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568527160	chr7:100326371-100326372	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529448777	chr7:100326372-100326373	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550994773	chr7:100326377-100326378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368690388	chr7:100326381-100326382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs570725176	chr7:100326383-100326384	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190556224	chr7:100326407-100326408	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs552154968	chr7:100326408-100326409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570726284	chr7:100326455-100326456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534475917	chr7:100326469-100326470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs139912009	chr7:100326478-100326479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs149895564	chr7:100326534-100326535	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535201844	chr7:100326567-100326568	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556523710	chr7:100326587-100326588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs371047784	chr7:100326743-100326744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4729607	chr7:100326744-100326745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs182314993	chr7:100326762-100326763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536141364	chr7:100326778-100326779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556977835	chr7:100326802-100326803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143956239	chr7:100326834-100326835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567370432	chr7:100326845-100326846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184452973	chr7:100326849-100326850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540820583	chr7:100326995-100326996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562315327	chr7:100327025-100327026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189332934	chr7:100327073-100327074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4727462	chr7:100327089-100327090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs553187483	chr7:100327101-100327102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143161009	chr7:100327146-100327147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181321207	chr7:100327151-100327152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13221242	chr7:100327156-100327157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551760233	chr7:100327168-100327169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146676917	chr7:100327171-100327172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199783394	chr7:100327197-100327198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185541228	chr7:100327328-100327329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572602593	chr7:100327358-100327359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550281267	chr7:100327362-100327363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190648199	chr7:100327365-100327366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535282334	chr7:100327377-100327378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554371956	chr7:100327435-100327436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546138555	chr7:100327445-100327446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139813080	chr7:100327494-100327495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201579190	chr7:100327496-100327497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545160898	chr7:100327514-100327515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201020568	chr7:100327515-100327516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100319200-100342800	Weak transcription	Right Atrium	heart
2	chr7:100322000-100326400	Enhancers	HepG2	liver
3	chr7:100323800-100326400	Enhancers	HSMMtube	muscle
4	chr7:100323800-100328000	Weak transcription	Hela-S3	cervix
5	chr7:100323800-100334400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:100325400-100333000	Weak transcription	Liver	Liver
7	chr7:100326400-100327800	Weak transcription	HepG2	liver
8	chr7:100327800-100328000	Enhancers	HepG2	liver
9	chr7:100327800-100328000	Bivalent Enhancer	HSMMtube	muscle
10	chr7:100328000-100328200	Enhancers	Hela-S3	cervix
11	chr7:100328000-100328200	Flanking Active TSS	HepG2	liver
12	chr7:100328200-100328400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:100328200-100328400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:100328200-100328800	Enhancers	HepG2	liver
15	chr7:100328400-100328600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:100328800-100329200	Weak transcription	HepG2	liver
17	chr7:100329200-100334400	Enhancers	HepG2	liver
18	chr7:100329600-100331000	Enhancers	Primary B cells from peripheral blood	blood
19	chr7:100329600-100331200	Enhancers	Primary B cells from cord blood	blood
20	chr7:100329800-100330600	Enhancers	GM12878-XiMat	blood

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