Variant report

Variant	esv2761343
Chromosome Location	chr7:85079348-85099770
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	chr7:85087471-85087748	HepG2	liver:	n/a	chr7:85087596-85087605 chr7:85087594-85087607 chr7:85087596-85087605 chr7:85087596-85087605 chr7:85087594-85087605 chr7:85087596-85087607 chr7:85087596-85087605 chr7:85087594-85087607 chr7:85087596-85087607 chr7:85087594-85087607
2	CEBPB	chr7:85087499-85087717	A549	lung:	n/a	chr7:85087596-85087605 chr7:85087594-85087607 chr7:85087596-85087605 chr7:85087596-85087605 chr7:85087594-85087605 chr7:85087596-85087607 chr7:85087596-85087605 chr7:85087594-85087607 chr7:85087596-85087607 chr7:85087594-85087607
3	CEBPB	chr7:85099134-85099356	HepG2	liver:	n/a	n/a
4	CEBPB	chr7:85087476-85087634	H1-hESC	embryonic stem cell:	n/a	chr7:85087596-85087605 chr7:85087594-85087607 chr7:85087596-85087605 chr7:85087596-85087605 chr7:85087594-85087605 chr7:85087596-85087607 chr7:85087596-85087605 chr7:85087594-85087607 chr7:85087596-85087607 chr7:85087594-85087607
5	CEBPB	chr7:85097568-85097756	H1-hESC	embryonic stem cell:	n/a	chr7:85097670-85097681
6	CEBPB	chr7:85097504-85097820	IMR90	lung:	n/a	chr7:85097670-85097681
7	CEBPB	chr7:85097511-85097798	HepG2	liver:	n/a	chr7:85097670-85097681
8	CEBPB	chr7:85087413-85087769	IMR90	lung:	n/a	chr7:85087596-85087605 chr7:85087594-85087607 chr7:85087596-85087605 chr7:85087596-85087605 chr7:85087594-85087605 chr7:85087596-85087607 chr7:85087596-85087605 chr7:85087594-85087607 chr7:85087596-85087607 chr7:85087594-85087607
9	CTCF	chr7:85093660-85093810	MCF-7	breast:	n/a	chr7:85093770-85093791
10	CTCF	chr7:85093640-85093790	HPF	lung:	n/a	n/a
11	CTCF	chr7:85094140-85094290	BE2_C	brain:	n/a	n/a
12	CTCF	chr7:85093720-85093870	GM12865	blood:	n/a	chr7:85093770-85093791
13	CTCF	chr7:85093680-85093830	HMF	breast:	n/a	chr7:85093770-85093791
14	CTCF	chr7:85093654-85093873	Spleen_OC	spleen:	n/a	chr7:85093770-85093791
15	CTCF	chr7:85093760-85093910	HCT-116	colon:	n/a	chr7:85093770-85093791
16	CTCF	chr7:85093960-85094110	NHEK	skin:	n/a	n/a
17	CTCF	chr7:85093556-85093912	HCT-116	colon:	n/a	chr7:85093770-85093791
18	CTCF	chr7:85093800-85093950	HCM	heart:	n/a	n/a
19	CTCF	chr7:85085750-85085827	MCF-7	breast:	n/a	n/a
20	CTCF	chr7:85085598-85085854	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr7:85085700-85085850	Caco-2	colon:	n/a	n/a
22	CTCF	chr7:85093720-85093870	SAEC	small airway:	n/a	chr7:85093770-85093791
23	CTCF	chr7:85093688-85093896	Medullo	brain:	n/a	chr7:85093770-85093791
24	CTCF	chr7:85081720-85081870	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr7:85093960-85094110	SAEC	small airway:	n/a	n/a
26	CTCF	chr7:85093840-85093990	GM06990	blood:	n/a	n/a
27	CTCF	chr7:85093740-85093890	HBMEC	blood vessel:	n/a	chr7:85093770-85093791
28	CTCF	chr7:85093480-85093630	BE2_C	brain:	n/a	n/a
29	CTCF	chr7:85093640-85093790	NHEK	skin:	n/a	n/a
30	CTCF	chr7:85085708-85085836	HepG2	liver:	n/a	n/a
31	CTCF	chr7:85085674-85085865	Medullo	brain:	n/a	n/a
32	CTCF	chr7:85093760-85094050	AG09309	skin:	n/a	chr7:85093770-85093791
33	CTCF	chr7:85093700-85093850	HPF	lung:	n/a	chr7:85093770-85093791
34	CTCF	chr7:85093900-85094050	BE2_C	brain:	n/a	n/a
35	CTCF	chr7:85093840-85093990	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr7:85093980-85094130	HMF	breast:	n/a	n/a
37	CTCF	chr7:85093980-85094130	GM12872	blood:	n/a	n/a
38	CTCF	chr7:85093720-85093870	AG04450	lung:	n/a	chr7:85093770-85093791
39	CTCF	chr7:85093920-85094070	HAc	cerebellar:	n/a	n/a
40	CTCF	chr7:85093380-85093530	AG10803	skin:	n/a	n/a
41	CTCF	chr7:85093762-85093818	GM13977	blood:	n/a	chr7:85093770-85093791
42	CTCF	chr7:85093500-85093650	GM06990	blood:	n/a	n/a
43	CTCF	chr7:85093720-85093870	AoAF	blood vessel:	n/a	chr7:85093770-85093791
44	CTCF	chr7:85085761-85085808	LNCaP	prostate:	n/a	n/a
45	CTCF	chr7:85093680-85093830	HMEC	breast:	n/a	chr7:85093770-85093791
46	CTCF	chr7:85093780-85093930	HFF	foreskin:	n/a	n/a
47	CTCF	chr7:85093700-85093850	AG10803	skin:	n/a	chr7:85093770-85093791
48	CTCF	chr7:85093682-85093851	H1-hESC	embryonic stem cell:	n/a	chr7:85093770-85093791
49	CTCF	chr7:85093960-85094110	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr7:85093660-85093810	NHEK	skin:	n/a	chr7:85093770-85093791

Variant related genes	Relation type
LINC00972	TF binding region

Extended variants
information (count: 639 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:639 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546413520	chr7:85080427-85080428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565012470	chr7:85080466-85080467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575617259	chr7:85080470-85080471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544276030	chr7:85080480-85080481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562365299	chr7:85080496-85080497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151337150	chr7:85080505-85080506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116534377	chr7:85080589-85080590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188164181	chr7:85080624-85080625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140486092	chr7:85080668-85080669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73193997	chr7:85080672-85080673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145655676	chr7:85080676-85080677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116074300	chr7:85080734-85080735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561414944	chr7:85080740-85080741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114755769	chr7:85080744-85080745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535092471	chr7:85080749-85080750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568380473	chr7:85080764-85080765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181930338	chr7:85080852-85080853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554212321	chr7:85080854-85080855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528968837	chr7:85080924-85080925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566351197	chr7:85080946-85080947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78477979	chr7:85080948-85080949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547526941	chr7:85080953-85080954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559281351	chr7:85080957-85080958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187011421	chr7:85081033-85081034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77217600	chr7:85081063-85081064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576682133	chr7:85081118-85081119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539617495	chr7:85081131-85081132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201758874	chr7:85081132-85081133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142830712	chr7:85081170-85081171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560596534	chr7:85081171-85081172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35595424	chr7:85081180-85081181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192246864	chr7:85081205-85081206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145055914	chr7:85081237-85081238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541806792	chr7:85081315-85081316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540610390	chr7:85081317-85081318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138565220	chr7:85081318-85081319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527590604	chr7:85081326-85081327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183624050	chr7:85081333-85081334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563963763	chr7:85081334-85081335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186906199	chr7:85081381-85081382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368193465	chr7:85081385-85081386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568521383	chr7:85081442-85081443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35760738	chr7:85081459-85081460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550818513	chr7:85081462-85081463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547777231	chr7:85081477-85081478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566029963	chr7:85081503-85081504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149308136	chr7:85081510-85081511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144604492	chr7:85081541-85081542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148489466	chr7:85081557-85081558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73703643	chr7:85081574-85081575	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85080400-85082800	Enhancers	Fetal Heart	heart
2	chr7:85081600-85081800	Enhancers	Fetal Stomach	stomach
3	chr7:85082400-85090800	Weak transcription	Fetal Stomach	stomach
4	chr7:85083800-85085200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:85090800-85092000	Enhancers	Fetal Lung	lung
6	chr7:85090800-85092000	Enhancers	Fetal Stomach	stomach
7	chr7:85092000-85092200	Flanking Active TSS	Fetal Lung	lung
8	chr7:85092200-85092600	Enhancers	Fetal Lung	lung
9	chr7:85096000-85096400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:85097200-85097400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:85097600-85099200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:85098200-85098800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:85098200-85103400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:85098600-85098800	Enhancers	Primary hematopoietic stem cells	blood
15	chr7:85098800-85099200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:85099000-85100200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:85099200-85099600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:85099200-85100800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:85099600-85100800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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