Variant report

Variant	esv3352994
Chromosome Location	chr7:100326816-100341814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:183)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 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	chr7:100328137-100328308	Hela-S3	cervix:	n/a	chr7:100328193-100328204
3	CEBPB	chr7:100328048-100328277	K562	blood:	n/a	chr7:100328193-100328204
4	CEBPB	chr7:100328148-100328292	A549	lung:	n/a	chr7:100328193-100328204
5	CEBPB	chr7:100328099-100328290	IMR90	lung:	n/a	chr7:100328193-100328204
6	CEBPB	chr7:100328040-100328372	HepG2	liver:	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	CTCF	chr7:100334240-100334390	HepG2	liver:	n/a	n/a
10	EP300	chr7:100340972-100340992	K562	blood:	n/a	n/a
11	FAM48A	chr7:100328354-100328449	GM12878	blood:	n/a	n/a
12	FOXA1	chr7:100336911-100337230	HepG2	liver:	n/a	n/a
13	FOXA2	chr7:100336974-100337182	HepG2	liver:	n/a	n/a
14	HNF4A	chr7:100334443-100334631	HepG2	liver:	n/a	n/a
15	MYC	chr7:100341368-100341495	H1-hESC	embryonic stem cell:	n/a	n/a
16	NR2F2	chr7:100337909-100338392	K562	blood:	n/a	n/a
17	NR2F2	chr7:100337986-100338300	K562	blood:	n/a	n/a
18	PAX5	chr7:100329892-100330334	GM12891	blood:	n/a	n/a
19	PAX5	chr7:100340199-100340350	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:100335245-100335321	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:100334700-100334719	HepG2	liver:	n/a	n/a
22	POLR2A	chr7:100334504-100334656	HepG2	liver:	n/a	n/a
23	POLR2A	chr7:100329493-100329614	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr7:100329481-100329606	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr7:100334514-100334693	HepG2	liver:	n/a	n/a
26	POLR2A	chr7:100331776-100331843	K562	blood:	n/a	n/a
27	RCOR1	chr7:100337656-100337833	HepG2	liver:	n/a	n/a
28	SP1	chr7:100329335-100329646	HepG2	liver:	n/a	n/a
29	TEAD4	chr7:100337476-100337883	HepG2	liver:	n/a	n/a
30	ZBTB7A	chr7:100328037-100328215	HepG2	liver:	n/a	n/a
31	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	AG04449	skin:	fetal
2	chr7:100330587-100330637	GM12892	blood:	n/a
3	chr7:100330872-100330922	HMEC	breast:	n/a
4	chr7:100330587-100330637	BE2_C	brain:	n/a
5	chr7:100330872-100330922	Caco-2	colon:	n/a
6	chr7:100330587-100330637	HAEpiC	amniotic membrane:	n/a
7	chr7:100330109-100330159	HAEpiC	amniotic membrane:	n/a
8	chr7:100330872-100330922	Jurkat	blood:	n/a
9	chr7:100330587-100330637	GM19239	blood:	n/a
10	chr7:100330587-100330637	HNPCEpiC	eye:	n/a
11	chr7:100330109-100330159	HPAEpiC	pulmonary alveolar:	n/a
12	chr7:100330109-100330159	ProgFib	skin:	n/a
13	chr7:100330587-100330637	GM12878	blood:	n/a
14	chr7:100330587-100330637	NB4	blood:	n/a
15	chr7:100330109-100330159	Caco-2	colon:	n/a
16	chr7:100330587-100330637	SAEC	small airway:	n/a
17	chr7:100330109-100330159	NT2-D1	testis:	n/a
18	chr7:100330587-100330637	ovcar-3	ovarian:	n/a
19	chr7:100330109-100330159	T-47D	breast:	n/a
20	chr7:100330109-100330159	HEK293	kidney:	embryo
21	chr7:100330872-100330922	HCT-116	colon:	n/a
22	chr7:100330872-100330922	AoSMC	blood vessel:	n/a
23	chr7:100330109-100330159	Hepatocyte	liver:	n/a
24	chr7:100330109-100330159	HCM	heart:	n/a
25	chr7:100330587-100330637	GM12891	blood:	n/a
26	chr7:100330109-100330159	K562	blood:	n/a
27	chr7:100330587-100330637	H1-hESC	embryonic stem cell:	embryo
28	chr7:100330109-100330159	U87	brain:	n/a
29	chr7:100330587-100330637	GM06990	blood:	n/a
30	chr7:100330109-100330159	HIPEpiC	eye:	n/a
31	chr7:100330872-100330922	GM06990	blood:	n/a
32	chr7:100330872-100330922	NT2-D1	testis:	n/a
33	chr7:100330872-100330922	LNCaP	prostate:	n/a
34	chr7:100330872-100330922	NHBE	bronchial:	n/a
35	chr7:100330872-100330922	HRE	kidney:	n/a
36	chr7:100330109-100330159	MCF-7	breast:	n/a
37	chr7:100330587-100330637	HCF	heart:	n/a
38	chr7:100330872-100330922	SKMC	muscle:	n/a
39	chr7:100330872-100330922	A549	lung:	n/a
40	chr7:100330587-100330637	AG10803	skin:	n/a
41	chr7:100330587-100330637	SK-N-SH_RA	brain:	n/a
42	chr7:100330587-100330637	HMEC	breast:	n/a
43	chr7:100330587-100330637	BJ	skin:	n/a
44	chr7:100330109-100330159	HCT-116	colon:	n/a
45	chr7:100330587-100330637	Caco-2	colon:	n/a
46	chr7:100330872-100330922	HNPCEpiC	eye:	n/a
47	chr7:100330109-100330159	NHBE	bronchial:	n/a
48	chr7:100330587-100330637	Hepatocyte	liver:	n/a
49	chr7:100330109-100330159	Jurkat	blood:	n/a
50	chr7:100330872-100330922	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:100325203..100328007-chr7:100356386..100357913,2	K562	blood:
2	chr7:100033824..100035649-chr7:100341389..100343074,2	K562	blood:
3	chr7:100326112..100327796-chr7:100392464..100395372,2	MCF-7	breast:
4	chr7:100336156..100338514-chr7:100343827..100346025,2	K562	blood:
5	chr7:100330076..100331647-chr7:100341645..100343390,2	K562	blood:

No data

Variant related genes	Relation type
ZAN	TF binding region
ZAN	CpG island
ENSG00000160813	chromatin interactions
ENSG00000146839	chromatin interactions
ENSG00000240211	chromatin interactions

Extended variants
information (count: 521 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143956239	chr7:100326834-100326835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567370432	chr7:100326845-100326846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184452973	chr7:100326849-100326850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540820583	chr7:100326995-100326996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562315327	chr7:100327025-100327026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189332934	chr7:100327073-100327074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4727462	chr7:100327089-100327090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs553187483	chr7:100327101-100327102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143161009	chr7:100327146-100327147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181321207	chr7:100327151-100327152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13221242	chr7:100327156-100327157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551760233	chr7:100327168-100327169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146676917	chr7:100327171-100327172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199783394	chr7:100327197-100327198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185541228	chr7:100327328-100327329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572602593	chr7:100327358-100327359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550281267	chr7:100327362-100327363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190648199	chr7:100327365-100327366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535282334	chr7:100327377-100327378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554371956	chr7:100327435-100327436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546138555	chr7:100327445-100327446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139813080	chr7:100327494-100327495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201579190	chr7:100327496-100327497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545160898	chr7:100327514-100327515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201020568	chr7:100327515-100327516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201967426	chr7:100327516-100327517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575854155	chr7:100327517-100327518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369527838	chr7:100327565-100327566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201385692	chr7:100327587-100327588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575298811	chr7:100327590-100327591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181746346	chr7:100327650-100327651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557776265	chr7:100327652-100327653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573455501	chr7:100327653-100327654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139392073	chr7:100327722-100327723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562254235	chr7:100327725-100327726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186926340	chr7:100327745-100327746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142718380	chr7:100327747-100327748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544842689	chr7:100327796-100327797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536815645	chr7:100327814-100327815	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs115221000	chr7:100327832-100327833	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs530183069	chr7:100327861-100327862	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs564816546	chr7:100327862-100327863	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs558240166	chr7:100327863-100327864	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs551480122	chr7:100327870-100327871	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs75811308	chr7:100327918-100327919	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs528354821	chr7:100327953-100327954	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs376833174	chr7:100328014-100328015	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs546453875	chr7:100328031-100328032	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs568035128	chr7:100328057-100328058	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs575925751	chr7:100328077-100328078	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	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:37 , 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
15	chr7:100329200-100334400	Enhancers	HepG2	liver
16	chr7:100329600-100331000	Enhancers	Primary B cells from peripheral blood	blood
17	chr7:100329600-100331200	Enhancers	Primary B cells from cord blood	blood
18	chr7:100329800-100330600	Enhancers	GM12878-XiMat	blood
19	chr7:100331400-100331800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:100331400-100331800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:100331400-100332000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:100331600-100332000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:100333000-100334200	Enhancers	Liver	Liver
24	chr7:100334200-100334400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:100334200-100334800	Enhancers	Fetal Intestine Large	intestine
26	chr7:100334400-100334600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:100334400-100334800	Flanking Active TSS	HepG2	liver
28	chr7:100334400-100335000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:100334800-100335000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:100334800-100335000	Active TSS	HepG2	liver
31	chr7:100335000-100336000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:100335000-100336000	Weak transcription	HepG2	liver
33	chr7:100336000-100337400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:100336000-100337600	Enhancers	HepG2	liver
35	chr7:100337400-100337800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:100337600-100338000	Flanking Active TSS	HepG2	liver
37	chr7:100340600-100342800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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