Variant report

Variant	esv3451810
Chromosome Location	chr6:86564474-86577360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:129)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:129 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:86576041-86576233	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr6:86565051-86565149	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr6:86574360-86574510	HEK293	kidney:	n/a	n/a
4	CTCF	chr6:86574354-86574509	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr6:86574327-86574557	GM12878	blood:	n/a	n/a
6	CTCF	chr6:86574295-86574541	IMR90	lung:	n/a	n/a
7	CTCF	chr6:86572220-86572243	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr6:86574420-86574570	HFF	foreskin:	n/a	n/a
9	CTCF	chr6:86574368-86574432	LNCaP	prostate:	n/a	n/a
10	CTCF	chr6:86574680-86574830	AoAF	blood vessel:	n/a	n/a
11	CTCF	chr6:86574360-86574510	HA-sp	spinal cord:	n/a	n/a
12	CTCF	chr6:86574400-86574550	Caco-2	colon:	n/a	n/a
13	CTCF	chr6:86574307-86574542	K562	blood:	n/a	n/a
14	CTCF	chr6:86574780-86574930	SAEC	small airway:	n/a	n/a
15	CTCF	chr6:86574340-86574490	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr6:86574320-86574470	HCM	heart:	n/a	n/a
17	CTCF	chr6:86575320-86575470	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr6:86566194-86566277	GM10248	blood:	n/a	n/a
19	CTCF	chr6:86576320-86576470	HPF	lung:	n/a	n/a
20	CTCF	chr6:86574320-86574470	AG10803	skin:	n/a	n/a
21	CTCF	chr6:86574340-86574490	HMEC	breast:	n/a	n/a
22	CTCF	chr6:86574300-86574450	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr6:86574380-86574530	AG09309	skin:	n/a	n/a
24	CTCF	chr6:86574540-86574690	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr6:86574300-86574450	Caco-2	colon:	n/a	n/a
26	CTCF	chr6:86574280-86574430	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr6:86574280-86574430	HepG2	liver:	n/a	n/a
28	CTCF	chr6:86574580-86574730	HVMF	connective:	n/a	n/a
29	CTCF	chr6:86574380-86574530	HMF	breast:	n/a	n/a
30	CTCF	chr6:86574400-86574425	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr6:86574280-86574430	AG04449	skin:	n/a	n/a
32	CTCF	chr6:86574380-86574530	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr6:86574380-86574530	MCF-7	breast:	n/a	n/a
34	CTCF	chr6:86574060-86574210	K562	blood:	n/a	n/a
35	CTCF	chr6:86574380-86574530	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr6:86574320-86574470	AG04449	skin:	n/a	n/a
37	CTCF	chr6:86574360-86574510	HCT-116	colon:	n/a	n/a
38	CTCF	chr6:86574450-86574455	LNCaP	prostate:	n/a	n/a
39	CTCF	chr6:86574426-86574436	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr6:86574300-86574450	HRE	kidney:	n/a	n/a
41	CTCF	chr6:86574320-86574470	HAc	cerebellar:	n/a	n/a
42	CTCF	chr6:86574440-86574590	NB4	blood:	n/a	n/a
43	CTCF	chr6:86574280-86574430	RPTEC	kidney:	n/a	n/a
44	CTCF	chr6:86574315-86574476	HepG2	liver:	n/a	n/a
45	CTCF	chr6:86574360-86574510	SAEC	small airway:	n/a	n/a
46	CTCF	chr6:86574300-86574450	BE2_C	brain:	n/a	n/a
47	CTCF	chr6:86574271-86574509	A549	lung:	n/a	n/a
48	CTCF	chr6:86574300-86574450	NHEK	skin:	n/a	n/a
49	CTCF	chr6:86574300-86574450	HMF	breast:	n/a	n/a
50	CTCF	chr6:86574350-86574490	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:86386983..86389313-chr6:86573645..86576019,2	MCF-7	breast:
2	chr6:86534169..86534685-chr6:86574198..86574815,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NT5E-7	chr6:86571835-86571903	NONHSAT113873
2	lnc-NT5E-7	chr6:86565538-86565836	NONHSAT113873

No data

Variant related genes	Relation type
ENSG00000218766	TF binding region
ENSG00000203875	chromatin interactions

Extended variants
information (count: 895 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:895 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558928206	chr6:86564537-86564538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574143798	chr6:86564580-86564581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192935557	chr6:86564610-86564611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541416609	chr6:86564612-86564613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548797114	chr6:86564621-86564622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563274257	chr6:86564654-86564655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185138449	chr6:86564670-86564671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72493076	chr6:86564672-86564673	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs564661218	chr6:86564689-86564690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528796211	chr6:86564697-86564698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547364006	chr6:86564704-86564705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114080006	chr6:86564734-86564735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535884527	chr6:86564742-86564743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550927921	chr6:86564835-86564836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569271495	chr6:86564857-86564858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539889925	chr6:86564863-86564864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148912966	chr6:86564870-86564871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549128344	chr6:86564907-86564908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527975166	chr6:86564942-86564943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570581974	chr6:86564949-86564950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534508629	chr6:86564951-86564952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552890403	chr6:86565018-86565019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574376312	chr6:86565027-86565028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541453426	chr6:86565049-86565050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1838957	chr6:86565056-86565057	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs575253403	chr6:86565061-86565062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545836743	chr6:86565093-86565094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564021709	chr6:86565098-86565099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528734934	chr6:86565142-86565143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540812093	chr6:86565145-86565146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571195374	chr6:86565187-86565188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562393841	chr6:86565208-86565209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79644575	chr6:86565236-86565237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35631799	chr6:86565239-86565240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529580946	chr6:86565255-86565256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1838956	chr6:86565263-86565264	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs569195233	chr6:86565276-86565277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202017309	chr6:86565315-86565316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116676784	chr6:86565319-86565320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533272112	chr6:86565329-86565330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551899920	chr6:86565351-86565352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566619656	chr6:86565373-86565374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145517061	chr6:86565376-86565377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114440980	chr6:86565385-86565386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568035450	chr6:86565395-86565396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377106029	chr6:86565401-86565402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556685916	chr6:86565420-86565421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1838955	chr6:86565449-86565450	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs545471932	chr6:86565473-86565474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1838954	chr6:86565478-86565479	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:104)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86563200-86577800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:86563400-86567000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr6:86564000-86566400	Weak transcription	Pancreas	Pancrea
4	chr6:86564200-86565200	Weak transcription	Ovary	ovary
5	chr6:86565000-86565400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:86565200-86565400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:86565200-86566800	Enhancers	Ovary	ovary
8	chr6:86566400-86566600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:86566400-86566600	Enhancers	Pancreas	Pancrea
10	chr6:86566600-86573400	Weak transcription	Pancreas	Pancrea
11	chr6:86566800-86574200	Weak transcription	Ovary	ovary
12	chr6:86568200-86576800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:86572400-86574800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:86573000-86573600	Enhancers	Esophagus	oesophagus
15	chr6:86573400-86575600	Enhancers	Pancreas	Pancrea
16	chr6:86573600-86574400	Weak transcription	Esophagus	oesophagus
17	chr6:86573800-86574800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr6:86574000-86574200	Enhancers	Stomach Smooth Muscle	stomach
19	chr6:86574000-86574600	Enhancers	Rectal Smooth Muscle	rectum
20	chr6:86574000-86574800	Enhancers	HUVEC	blood vessel
21	chr6:86574000-86575200	Enhancers	Fetal Lung	lung
22	chr6:86574000-86575200	Enhancers	NHEK	skin
23	chr6:86574200-86574600	Enhancers	Aorta	Aorta
24	chr6:86574200-86574600	Enhancers	Colon Smooth Muscle	Colon
25	chr6:86574200-86574600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr6:86574200-86574800	Enhancers	Ovary	ovary
27	chr6:86574200-86575000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:86574200-86575000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:86574200-86575200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:86574200-86575200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr6:86574200-86575400	Enhancers	Fetal Intestine Large	intestine
32	chr6:86574200-86575400	Enhancers	Fetal Muscle Leg	muscle
33	chr6:86574200-86575400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr6:86574400-86574600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:86574400-86574600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:86574400-86574600	Enhancers	Gastric	stomach
37	chr6:86574400-86574800	Enhancers	HepG2	liver
38	chr6:86574400-86575000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:86574400-86575000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:86574400-86575000	Active TSS	Duodenum Mucosa	Duodenum
41	chr6:86574400-86575000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:86574400-86575000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr6:86574400-86575000	Enhancers	Dnd41	blood
44	chr6:86574400-86575200	Enhancers	Brain Hippocampus Middle	brain
45	chr6:86574400-86575200	Enhancers	Fetal Kidney	kidney
46	chr6:86574400-86575200	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr6:86574400-86575400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:86574400-86575400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:86574400-86575400	Enhancers	Hela-S3	cervix
50	chr6:86574400-86575600	Enhancers	Esophagus	oesophagus

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