Variant report

Variant	esv3477417
Chromosome Location	chr7:100327315-100329074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:100328137-100328308	Hela-S3	cervix:	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	chr7:100328040-100328372	HepG2	liver:	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	FAM48A	chr7:100328354-100328449	GM12878	blood:	n/a	n/a
9	ZBTB7A	chr7:100328037-100328215	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100326112..100327796-chr7:100392464..100395372,2	MCF-7	breast:
2	chr7:100325203..100328007-chr7:100356386..100357913,2	K562	blood:

Variant related genes	Relation type
ZAN	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185541228	chr7:100327328-100327329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572602593	chr7:100327358-100327359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550281267	chr7:100327362-100327363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190648199	chr7:100327365-100327366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535282334	chr7:100327377-100327378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554371956	chr7:100327435-100327436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546138555	chr7:100327445-100327446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139813080	chr7:100327494-100327495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201579190	chr7:100327496-100327497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545160898	chr7:100327514-100327515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201020568	chr7:100327515-100327516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201967426	chr7:100327516-100327517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575854155	chr7:100327517-100327518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369527838	chr7:100327565-100327566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201385692	chr7:100327587-100327588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575298811	chr7:100327590-100327591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181746346	chr7:100327650-100327651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557776265	chr7:100327652-100327653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573455501	chr7:100327653-100327654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139392073	chr7:100327722-100327723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562254235	chr7:100327725-100327726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186926340	chr7:100327745-100327746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142718380	chr7:100327747-100327748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544842689	chr7:100327796-100327797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536815645	chr7:100327814-100327815	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs115221000	chr7:100327832-100327833	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs530183069	chr7:100327861-100327862	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs564816546	chr7:100327862-100327863	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs558240166	chr7:100327863-100327864	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs551480122	chr7:100327870-100327871	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs75811308	chr7:100327918-100327919	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs528354821	chr7:100327953-100327954	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs376833174	chr7:100328014-100328015	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs546453875	chr7:100328031-100328032	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs568035128	chr7:100328057-100328058	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs575925751	chr7:100328077-100328078	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs550762034	chr7:100328079-100328080	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs568851185	chr7:100328086-100328087	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs539568216	chr7:100328104-100328105	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs557447619	chr7:100328117-100328118	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs574816721	chr7:100328159-100328160	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs150976003	chr7:100328313-100328314	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs533788478	chr7:100328349-100328350	Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs556069765	chr7:100328458-100328459	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574391931	chr7:100328495-100328496	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369380424	chr7:100328499-100328500	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543048572	chr7:100328519-100328520	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544468017	chr7:100328527-100328528	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200256233	chr7:100328556-100328557	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112470034	chr7:100328559-100328560	Weak transcription Bivalent Enhancer Enhancers	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:14 , 50 per page) page: 1

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

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