Variant report

Variant	esv3384115
Chromosome Location	chr6:141740308-141769818
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:142)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:142 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr6:141742585-141742940	HCT-116	colon:	n/a	n/a
2	CEBPB	chr6:141746032-141746219	K562	blood:	n/a	chr6:141746166-141746177
3	CEBPB	chr6:141746002-141746317	IMR90	lung:	n/a	chr6:141746166-141746177
4	CEBPB	chr6:141742530-141742888	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr6:141742602-141742871	A549	lung:	n/a	n/a
6	CEBPB	chr6:141746014-141746310	HepG2	liver:	n/a	chr6:141746166-141746177
7	CEBPB	chr6:141742530-141742887	IMR90	lung:	n/a	n/a
8	CEBPB	chr6:141760039-141760303	HepG2	liver:	n/a	chr6:141760191-141760202
9	CHD2	chr6:141742523-141742743	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr6:141747700-141747850	HRPEpiC	eye:	n/a	n/a
11	CTCF	chr6:141747440-141747590	RPTEC	kidney:	n/a	n/a
12	CTCF	chr6:141747600-141747750	HCPEpiC	choroid plexus:	n/a	n/a
13	CTCF	chr6:141769040-141769190	NHDF-neo	bronchial:	n/a	n/a
14	CTCF	chr6:141747540-141747690	HEEpiC	esophagus:	n/a	n/a
15	CTCF	chr6:141747620-141747770	AG10803	skin:	n/a	n/a
16	CTCF	chr6:141747600-141747750	AG10803	skin:	n/a	n/a
17	CTCF	chr6:141747580-141747730	HFF	foreskin:	n/a	n/a
18	CTCF	chr6:141747720-141747870	GM12871	blood:	n/a	n/a
19	CTCF	chr6:141747500-141747650	HMF	breast:	n/a	n/a
20	CTCF	chr6:141747560-141747710	AoAF	blood vessel:	n/a	n/a
21	CTCF	chr6:141747560-141747710	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr6:141747720-141747870	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr6:141747660-141747810	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr6:141747620-141747770	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr6:141747700-141747850	BJ	skin:	n/a	n/a
26	CTCF	chr6:141747660-141747810	AoAF	blood vessel:	n/a	n/a
27	CTCF	chr6:141747660-141747810	AG04450	lung:	n/a	n/a
28	CTCF	chr6:141747480-141747750	HCFaa	heart:	n/a	n/a
29	CTCF	chr6:141747700-141747850	AG09309	skin:	n/a	n/a
30	CTCF	chr6:141747640-141747790	HEK293	kidney:	n/a	n/a
31	CTCF	chr6:141747700-141747850	HMF	breast:	n/a	n/a
32	CTCF	chr6:141747940-141748090	HPF	lung:	n/a	n/a
33	CTCF	chr6:141747660-141747810	HepG2	liver:	n/a	n/a
34	CTCF	chr6:141747560-141747710	GM12869	blood:	n/a	n/a
35	CTCF	chr6:141747720-141747870	HCT-116	colon:	n/a	n/a
36	CTCF	chr6:141747580-141747730	A549	lung:	n/a	n/a
37	CTCF	chr6:141747640-141747790	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr6:141747620-141747770	NHEK	skin:	n/a	n/a
39	CTCF	chr6:141747560-141747710	AG04450	lung:	n/a	n/a
40	CTCF	chr6:141747600-141747750	HMEC	breast:	n/a	n/a
41	CTCF	chr6:141747620-141747770	NB4	blood:	n/a	n/a
42	CTCF	chr6:141747560-141747710	RPTEC	kidney:	n/a	n/a
43	CTCF	chr6:141748000-141748150	HepG2	liver:	n/a	n/a
44	CTCF	chr6:141747640-141747790	GM12868	blood:	n/a	n/a
45	CTCF	chr6:141747620-141747770	MCF-7	breast:	n/a	n/a
46	CTCF	chr6:141747620-141747770	HAc	cerebellar:	n/a	n/a
47	CTCF	chr6:141747680-141747830	NHEK	skin:	n/a	n/a
48	CTCF	chr6:141754500-141754650	HCM	heart:	n/a	n/a
49	CTCF	chr6:141747600-141747750	MCF-7	breast:	n/a	n/a
50	E2F4	chr6:141759169-141759450	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:141737292..141738838-chr6:141741938..141743477,2	MCF-7	breast:
2	chr6:141670532..141672796-chr6:141769039..141771621,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GJE1-3	chr6:141767146-141767709	NONHSAT115291
2	lnc-GJE1-3	chr6:141742782-141743070	NONHSAT115294
3	lnc-GJE1-2	chr6:141768148-141771097	NONHSAT115296
4	lnc-GJE1-3	chr6:141767470-141767655	NONHSAT115294
5	lnc-GJE1-2	chr6:141768148-141772143	ENSG00000259828.1
6	lnc-GJE1-2	chr6:141768147-141772155	NONHSAT115295

No data

Variant related genes	Relation type
ENSG00000259828	TF binding region

Extended variants
information (count: 683 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:683 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200045851	chr6:141740366-141740367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548375682	chr6:141740367-141740368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569367729	chr6:141740369-141740370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536748732	chr6:141740370-141740371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551896428	chr6:141740384-141740385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541538990	chr6:141740388-141740389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376366539	chr6:141740389-141740390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370817273	chr6:141740391-141740392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62430767	chr6:141740392-141740393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374369827	chr6:141740393-141740394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62430768	chr6:141740396-141740397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62430769	chr6:141740400-141740401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62430786	chr6:141740404-141740405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62430787	chr6:141740408-141740409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7768603	chr6:141740412-141740413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368319653	chr6:141740416-141740417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371455305	chr6:141740420-141740421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537004857	chr6:141740424-141740425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373262968	chr6:141740446-141740447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534643252	chr6:141740496-141740497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115398700	chr6:141740522-141740523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575093725	chr6:141740527-141740528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548253489	chr6:141740547-141740548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535632640	chr6:141740558-141740559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556704095	chr6:141740696-141740697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370004991	chr6:141740698-141740699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185776017	chr6:141740726-141740727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575955420	chr6:141740764-141740765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546309268	chr6:141740859-141740860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35696012	chr6:141740866-141740867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564602211	chr6:141740880-141740881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377378291	chr6:141740897-141740898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573249189	chr6:141740913-141740914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1414123	chr6:141740918-141740919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs35244486	chr6:141740958-141740959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559349235	chr6:141740969-141740970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530007041	chr6:141741024-141741025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553179575	chr6:141741043-141741044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573119963	chr6:141741047-141741048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541807603	chr6:141741160-141741161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551758903	chr6:141741220-141741221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563135895	chr6:141741352-141741353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145599284	chr6:141741384-141741385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569248420	chr6:141741390-141741391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570235560	chr6:141741431-141741432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs137872221	chr6:141741477-141741478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190195056	chr6:141741491-141741492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568612947	chr6:141741557-141741558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181696985	chr6:141741559-141741560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557726376	chr6:141741592-141741593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141728200-141742800	Weak transcription	Psoas Muscle	Psoas
2	chr6:141730400-141747800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr6:141730600-141742000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:141735000-141743400	Weak transcription	Fetal Heart	heart
5	chr6:141737200-141740600	Weak transcription	HSMM	muscle
6	chr6:141737200-141742800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:141737800-141742800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:141740400-141740800	Enhancers	NHDF-Ad	bronchial
9	chr6:141740800-141742800	Weak transcription	NHDF-Ad	bronchial
10	chr6:141741600-141743200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:141742000-141742200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:141742000-141742400	Enhancers	A549	lung
13	chr6:141742000-141742800	Enhancers	HMEC	breast
14	chr6:141742000-141743400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:141742000-141743600	Enhancers	NHEK	skin
16	chr6:141742200-141742600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:141742400-141742800	Weak transcription	A549	lung
18	chr6:141742600-141743200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:141742800-141743000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:141742800-141743200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:141742800-141743200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:141742800-141743200	Active TSS	Psoas Muscle	Psoas
23	chr6:141742800-141743200	Flanking Active TSS	HMEC	breast
24	chr6:141742800-141743200	Enhancers	Osteobl	bone
25	chr6:141742800-141743400	Enhancers	NHDF-Ad	bronchial
26	chr6:141742800-141743600	Enhancers	A549	lung
27	chr6:141743000-141743400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:141743000-141743600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:141743000-141743600	Active TSS	Right Ventricle	heart
30	chr6:141743200-141743600	Enhancers	HMEC	breast
31	chr6:141743200-141747200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:141743200-141747400	Weak transcription	Osteobl	bone
33	chr6:141743200-141747600	Weak transcription	Psoas Muscle	Psoas
34	chr6:141743400-141747400	Weak transcription	NHDF-Ad	bronchial
35	chr6:141743600-141743800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:141743600-141747800	Weak transcription	HMEC	breast
37	chr6:141743800-141748000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:141747400-141748200	Enhancers	Osteobl	bone
39	chr6:141747400-141748600	Enhancers	NHDF-Ad	bronchial
40	chr6:141747400-141749000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:141747600-141748000	Enhancers	Psoas Muscle	Psoas
42	chr6:141747600-141748200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:141747600-141748400	Enhancers	HSMM	muscle
44	chr6:141747600-141748600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:141747800-141748200	Enhancers	HMEC	breast
46	chr6:141748000-141748200	Weak transcription	Psoas Muscle	Psoas
47	chr6:141748000-141748200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr6:141748000-141748200	Flanking Active TSS	HSMMtube	muscle
49	chr6:141748000-141748800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:141760000-141760200	ZNF genes & repeats	Pancreas	Pancrea

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