Variant report

Variant	esv1830559
Chromosome Location	chr7:100328352-100337055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:100328044-100328375	HepG2	liver:	n/a	chr7:100328193-100328204
2	CEBPB	chr7:100328040-100328372	HepG2	liver:	n/a	chr7:100328193-100328204
3	CTCF	chr7:100334240-100334390	HepG2	liver:	n/a	n/a
4	CTCF	chr7:100329480-100329513	GM13976	blood:	n/a	n/a
5	FAM48A	chr7:100328354-100328449	GM12878	blood:	n/a	n/a
6	FOXA1	chr7:100336911-100337230	HepG2	liver:	n/a	n/a
7	FOXA2	chr7:100336974-100337182	HepG2	liver:	n/a	n/a
8	HNF4A	chr7:100334443-100334631	HepG2	liver:	n/a	n/a
9	PAX5	chr7:100329892-100330334	GM12891	blood:	n/a	n/a
10	POLR2A	chr7:100331776-100331843	K562	blood:	n/a	n/a
11	POLR2A	chr7:100334514-100334693	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:100334700-100334719	HepG2	liver:	n/a	n/a
13	POLR2A	chr7:100334504-100334656	HepG2	liver:	n/a	n/a
14	POLR2A	chr7:100329481-100329606	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr7:100329493-100329614	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr7:100335245-100335321	GM12878	blood:	n/a	n/a
17	SP1	chr7:100329335-100329646	HepG2	liver:	n/a	n/a
18	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	MCF10A-Er-Src	breast:	n/a
2	chr7:100330872-100330922	RPTEC	kidney:	n/a
3	chr7:100330587-100330637	HEEpiC	esophagus:	n/a
4	chr7:100330587-100330637	U87	brain:	n/a
5	chr7:100330109-100330159	SKMC	muscle:	n/a
6	chr7:100330587-100330637	T-47D	breast:	n/a
7	chr7:100330109-100330159	NH-A	brain:	n/a
8	chr7:100330109-100330159	AG04450	lung:	fetal
9	chr7:100330872-100330922	HMEC	breast:	n/a
10	chr7:100330872-100330922	AG10803	skin:	n/a
11	chr7:100330872-100330922	IMR90	lung:	fetal
12	chr7:100330587-100330637	HMEC	breast:	n/a
13	chr7:100330109-100330159	HMEC	breast:	n/a
14	chr7:100330587-100330637	Hepatocyte	liver:	n/a
15	chr7:100330109-100330159	K562	blood:	n/a
16	chr7:100330872-100330922	Hela-S3	cervix:	n/a
17	chr7:100330872-100330922	NHBE	bronchial:	n/a
18	chr7:100330872-100330922	LNCaP	prostate:	n/a
19	chr7:100330109-100330159	HCM	heart:	n/a
20	chr7:100330109-100330159	HRPEpiC	eye:	n/a
21	chr7:100330587-100330637	HNPCEpiC	eye:	n/a
22	chr7:100330587-100330637	RPTEC	kidney:	n/a
23	chr7:100330872-100330922	ECC-1	luminal epithelium:	n/a
24	chr7:100330109-100330159	Caco-2	colon:	n/a
25	chr7:100330587-100330637	PrEC	prostate:	n/a
26	chr7:100330587-100330637	PANC-1	pancreas:	n/a
27	chr7:100330872-100330922	SK-N-SH_RA	brain:	n/a
28	chr7:100330872-100330922	H1-hESC	embryonic stem cell:	embryo
29	chr7:100330872-100330922	T-47D	breast:	n/a
30	chr7:100330872-100330922	AG04450	lung:	fetal
31	chr7:100330587-100330637	HCPEpiC	choroid plexus:	n/a
32	chr7:100330109-100330159	ECC-1	luminal epithelium:	n/a
33	chr7:100330109-100330159	H1-hESC	embryonic stem cell:	embryo
34	chr7:100330872-100330922	GM19239	blood:	n/a
35	chr7:100330109-100330159	SK-N-MC	brain:	n/a
36	chr7:100330872-100330922	Jurkat	blood:	n/a
37	chr7:100330872-100330922	AoSMC	blood vessel:	n/a
38	chr7:100330872-100330922	NH-A	brain:	n/a
39	chr7:100330872-100330922	HAEpiC	amniotic membrane:	n/a
40	chr7:100330587-100330637	HEK293	kidney:	embryo
41	chr7:100330109-100330159	HIPEpiC	eye:	n/a
42	chr7:100330109-100330159	GM19239	blood:	n/a
43	chr7:100330109-100330159	SK-N-SH_RA	brain:	n/a
44	chr7:100330872-100330922	Hepatocyte	liver:	n/a
45	chr7:100330109-100330159	HepG2	liver:	n/a
46	chr7:100330109-100330159	AG09309	skin:	n/a
47	chr7:100330872-100330922	SK-N-MC	brain:	n/a
48	chr7:100330872-100330922	GM12878	blood:	n/a
49	chr7:100330872-100330922	HIPEpiC	eye:	n/a
50	chr7:100330109-100330159	PrEC	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100336156..100338514-chr7:100343827..100346025,2	K562	blood:

No data

Variant related genes	Relation type
ZAN	TF binding region
ZAN	CpG island

Extended variants
information (count: 348 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556069765	chr7:100328458-100328459	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574391931	chr7:100328495-100328496	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369380424	chr7:100328499-100328500	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543048572	chr7:100328519-100328520	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544468017	chr7:100328527-100328528	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200256233	chr7:100328556-100328557	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112470034	chr7:100328559-100328560	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150209096	chr7:100328604-100328605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs578016023	chr7:100328623-100328624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs118009945	chr7:100328691-100328692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192055974	chr7:100328746-100328747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527650346	chr7:100328785-100328786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7807429	chr7:100328790-100328791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201865337	chr7:100328795-100328796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374584799	chr7:100328796-100328797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71126333	chr7:100328848-100328849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76498239	chr7:100328849-100328850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74965789	chr7:100328855-100328856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76886493	chr7:100328858-100328859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77814496	chr7:100328862-100328863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76614505	chr7:100328866-100328867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78833315	chr7:100328869-100328870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs80079590	chr7:100328880-100328881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74581101	chr7:100328888-100328889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79452566	chr7:100328893-100328894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183945086	chr7:100328895-100328896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77652739	chr7:100328896-100328897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77290123	chr7:100328901-100328902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78146639	chr7:100328905-100328906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74773616	chr7:100328918-100328919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199798976	chr7:100328936-100328937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532871637	chr7:100328939-100328940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551425581	chr7:100328947-100328948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566595403	chr7:100328957-100328958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189559226	chr7:100328958-100328959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555441097	chr7:100328983-100328984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145764148	chr7:100328991-100328992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6465775	chr7:100329078-100329079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs551361658	chr7:100329084-100329085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147033972	chr7:100329107-100329108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182545687	chr7:100329128-100329129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576815324	chr7:100329135-100329136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76015310	chr7:100329162-100329163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6975957	chr7:100329189-100329190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs560995159	chr7:100329226-100329227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529130372	chr7:100329259-100329260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200782533	chr7:100329360-100329361	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs138330523	chr7:100329402-100329403	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs562658608	chr7:100329530-100329531	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs2406257	chr7:100329567-100329568	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100319200-100342800	Weak transcription	Right Atrium	heart
2	chr7:100323800-100334400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:100325400-100333000	Weak transcription	Liver	Liver
4	chr7:100328200-100328400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:100328200-100328400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:100328200-100328800	Enhancers	HepG2	liver
7	chr7:100328400-100328600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:100328800-100329200	Weak transcription	HepG2	liver
9	chr7:100329200-100334400	Enhancers	HepG2	liver
10	chr7:100329600-100331000	Enhancers	Primary B cells from peripheral blood	blood
11	chr7:100329600-100331200	Enhancers	Primary B cells from cord blood	blood
12	chr7:100329800-100330600	Enhancers	GM12878-XiMat	blood
13	chr7:100331400-100331800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:100331400-100331800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr7:100331400-100332000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:100331600-100332000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:100333000-100334200	Enhancers	Liver	Liver
18	chr7:100334200-100334400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:100334200-100334800	Enhancers	Fetal Intestine Large	intestine
20	chr7:100334400-100334600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:100334400-100334800	Flanking Active TSS	HepG2	liver
22	chr7:100334400-100335000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:100334800-100335000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:100334800-100335000	Active TSS	HepG2	liver
25	chr7:100335000-100336000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:100335000-100336000	Weak transcription	HepG2	liver
27	chr7:100336000-100337400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:100336000-100337600	Enhancers	HepG2	liver

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