Variant report

Variant	esv17585
Chromosome Location	chr6:4254023-4257185
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:4256410..4259237-chr6:4260619..4262312,2	K562	blood:
2	chr6:4252767..4255076-chr6:4255779..4258262,2	MCF-7	breast:
3	chr6:4256634..4260314-chr6:4272852..4276265,4	MCF-7	breast:
4	chr6:4252767..4255076-chr6:4255779..4258262,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf201-13	chr6:4256391-4256579	NONHSAT107366
2	lnc-C6orf201-13	chr6:4257115-4257175	NONHSAT107365
3	lnc-C6orf201-13	chr6:4256950-4257175	NONHSAT107364
4	lnc-C6orf201-13	chr6:4256391-4256579	NONHSAT107365
5	lnc-C6orf201-13	chr6:4256391-4256579	NONHSAT107364

No data

Extended variants
information (count: 147 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578206511	chr6:4254140-4254141	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs556779313	chr6:4254175-4254176	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs9504006	chr6:4254191-4254192	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs74449424	chr6:4254215-4254216	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs574081564	chr6:4254223-4254224	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs187671188	chr6:4254234-4254235	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs192880725	chr6:4254251-4254252	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs528551418	chr6:4254277-4254278	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs544897829	chr6:4254288-4254289	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs557798818	chr6:4254289-4254290	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs34652689	chr6:4254327-4254328	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs185816199	chr6:4254328-4254329	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs575279998	chr6:4254341-4254342	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs530752217	chr6:4254352-4254353	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs112381481	chr6:4254356-4254357	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs9504007	chr6:4254424-4254425	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs368045766	chr6:4254454-4254455	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529650784	chr6:4254480-4254481	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546151976	chr6:4254499-4254500	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190285560	chr6:4254500-4254501	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9502151	chr6:4254516-4254517	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs9502152	chr6:4254567-4254568	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115384183	chr6:4254592-4254593	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35704571	chr6:4254595-4254596	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35934708	chr6:4254603-4254604	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537791078	chr6:4254620-4254621	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73717478	chr6:4254624-4254625	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs9328230	chr6:4254634-4254635	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs532844688	chr6:4254648-4254649	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4629733	chr6:4254668-4254669	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs4596533	chr6:4254686-4254687	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567816210	chr6:4254720-4254721	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10223886	chr6:4254770-4254771	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs545473528	chr6:4254783-4254784	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564978472	chr6:4254824-4254825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530622635	chr6:4254861-4254862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112811007	chr6:4254872-4254873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56129641	chr6:4254887-4254888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79581373	chr6:4254921-4254922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77326445	chr6:4254945-4254946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543962429	chr6:4254966-4254967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10223763	chr6:4254970-4254971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113682314	chr6:4255019-4255020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111924913	chr6:4255052-4255053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs66698520	chr6:4255068-4255069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372280913	chr6:4255101-4255102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546214194	chr6:4255106-4255107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs67141406	chr6:4255113-4255114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10524298	chr6:4255117-4255118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9392572	chr6:4255150-4255151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4253200-4254200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr6:4253200-4254200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:4253200-4254400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:4253200-4254600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:4253200-4254600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr6:4253200-4254800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:4253200-4254800	Enhancers	Fetal Muscle Leg	muscle
8	chr6:4253200-4254800	Enhancers	Fetal Stomach	stomach
9	chr6:4253200-4254800	Enhancers	Psoas Muscle	Psoas
10	chr6:4253200-4255000	Enhancers	HUVEC	blood vessel
11	chr6:4253400-4254200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:4253400-4254400	Enhancers	Lung	lung
13	chr6:4253400-4254400	Enhancers	Pancreas	Pancrea
14	chr6:4253400-4254600	Enhancers	Primary hematopoietic stem cells	blood
15	chr6:4253400-4254600	Enhancers	Placenta	Placenta
16	chr6:4253400-4254600	Enhancers	Left Ventricle	heart
17	chr6:4253400-4254600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr6:4253400-4254600	Enhancers	NHDF-Ad	bronchial
19	chr6:4253400-4254800	Enhancers	Colon Smooth Muscle	Colon
20	chr6:4253400-4254800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr6:4253400-4254800	Enhancers	Fetal Lung	lung
22	chr6:4253400-4254800	Enhancers	Fetal Thymus	thymus
23	chr6:4253400-4254800	Enhancers	Rectal Smooth Muscle	rectum
24	chr6:4253400-4254800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr6:4253400-4255000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:4253600-4254200	Enhancers	Aorta	Aorta
27	chr6:4253600-4254400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:4253600-4254400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr6:4253600-4254600	Enhancers	Fetal Heart	heart
30	chr6:4253600-4254600	Enhancers	Right Ventricle	heart
31	chr6:4253600-4254800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:4253600-4254800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr6:4253600-4254800	Enhancers	Right Atrium	heart
34	chr6:4253600-4254800	Enhancers	Hela-S3	cervix
35	chr6:4253600-4254800	Enhancers	NHEK	skin
36	chr6:4253800-4254200	Enhancers	Esophagus	oesophagus
37	chr6:4253800-4254200	Enhancers	Fetal Muscle Trunk	muscle
38	chr6:4253800-4254400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr6:4253800-4254400	Enhancers	Brain Hippocampus Middle	brain
40	chr6:4253800-4254400	Bivalent Enhancer	HepG2	liver
41	chr6:4253800-4254600	Enhancers	Ovary	ovary
42	chr6:4253800-4254600	Enhancers	A549	lung
43	chr6:4253800-4254800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:4253800-4254800	Enhancers	Stomach Mucosa	stomach
45	chr6:4253800-4254800	Enhancers	NH-A	brain
46	chr6:4254000-4254400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr6:4254000-4254400	Enhancers	Fetal Intestine Small	intestine
48	chr6:4254000-4254400	Enhancers	Osteobl	bone
49	chr6:4254000-4254600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:4254000-4254600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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