Variant report

Variant	esv3364770
Chromosome Location	chr1:85069339-85078334
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:85076342..85078596-chr1:85080443..85082474,2	K562	blood:
2	chr1:84886211..84887078-chr1:85070133..85071055,2	K562	blood:
3	chr1:84971513..84973895-chr1:85067584..85070054,2	K562	blood:
4	chr1:85066761..85068323-chr1:85074286..85076322,2	K562	blood:
5	chr1:85065241..85066819-chr1:85068863..85070458,2	K562	blood:
6	chr1:85070056..85070847-chr1:85218987..85219628,2	K562	blood:
7	chr1:84907597..84908564-chr1:85069976..85070920,6	K562	blood:
8	chr1:85038959..85041198-chr1:85070414..85071999,2	K562	blood:
9	chr1:85069957..85070498-chr1:85248067..85248805,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117151	chromatin interactions
ENSG00000174021	chromatin interactions
ENSG00000122432	chromatin interactions

Extended variants
information (count: 281 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370080141	chr1:85069345-85069346	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs117592574	chr1:85069424-85069425	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs565484823	chr1:85069438-85069439	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs567859818	chr1:85069535-85069536	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs151010313	chr1:85069568-85069569	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551228258	chr1:85069623-85069624	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs567871869	chr1:85069630-85069631	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs541952950	chr1:85069631-85069632	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs376307828	chr1:85069702-85069703	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs546380981	chr1:85069748-85069749	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs2994936	chr1:85069833-85069834	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538294731	chr1:85069886-85069887	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558811833	chr1:85069903-85069904	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs370590952	chr1:85069907-85069908	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs537633970	chr1:85069918-85069919	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs554308971	chr1:85069928-85069929	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs146027527	chr1:85069983-85069984	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs542668173	chr1:85070018-85070019	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs2911600	chr1:85070036-85070037	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs74496281	chr1:85070037-85070038	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs368219293	chr1:85070061-85070062	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs184065927	chr1:85070072-85070073	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs565555398	chr1:85070074-85070075	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs531193037	chr1:85070086-85070087	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs551316072	chr1:85070112-85070113	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs77620398	chr1:85070143-85070144	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs530327475	chr1:85070157-85070158	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs546663839	chr1:85070158-85070159	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs371419922	chr1:85070178-85070179	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs2911601	chr1:85070185-85070186	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs115829410	chr1:85070197-85070198	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs551921836	chr1:85070301-85070302	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs141279633	chr1:85070448-85070449	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs150295018	chr1:85070470-85070471	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs78835500	chr1:85070484-85070485	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574254919	chr1:85070529-85070530	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs188093786	chr1:85070635-85070636	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs192796754	chr1:85070670-85070671	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs2911602	chr1:85070705-85070706	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs185548309	chr1:85070716-85070717	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372435387	chr1:85070717-85070718	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558650019	chr1:85070752-85070753	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564488765	chr1:85070794-85070795	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs544879232	chr1:85070840-85070841	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs74393844	chr1:85070848-85070849	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs2911603	chr1:85070877-85070878	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs536944889	chr1:85070958-85070959	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs372773620	chr1:85070963-85070964	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs149458552	chr1:85070970-85070971	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs560178335	chr1:85070971-85070972	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85051000-85069800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85065600-85069600	Weak transcription	Left Ventricle	heart
3	chr1:85067600-85069400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:85068000-85069400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:85068000-85069800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:85068400-85069400	Enhancers	Colon Smooth Muscle	Colon
7	chr1:85068600-85070200	Enhancers	Fetal Heart	heart
8	chr1:85068800-85069400	Weak transcription	Aorta	Aorta
9	chr1:85068800-85069400	Enhancers	HMEC	breast
10	chr1:85069000-85069400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:85069000-85069400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:85069000-85069400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:85069000-85069400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:85069000-85069400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr1:85069000-85069400	Enhancers	Right Atrium	heart
16	chr1:85069000-85069400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:85069000-85069400	Flanking Active TSS	NHDF-Ad	bronchial
18	chr1:85069000-85069400	Enhancers	NHLF	lung
19	chr1:85069000-85069600	Enhancers	K562	blood
20	chr1:85069000-85070200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:85069000-85070200	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr1:85069000-85070200	Flanking Active TSS	NH-A	brain
23	chr1:85069000-85070400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:85069000-85070400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:85069000-85070400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:85069000-85070400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr1:85069000-85070400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:85069000-85070400	Flanking Active TSS	NHEK	skin
29	chr1:85069000-85070600	Flanking Active TSS	Hela-S3	cervix
30	chr1:85069000-85070600	Flanking Active TSS	Osteobl	bone
31	chr1:85069200-85069400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:85069200-85069400	Flanking Active TSS	HSMM	muscle
33	chr1:85069200-85069600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:85069200-85070000	Active TSS	Ovary	ovary
35	chr1:85069200-85070000	Active TSS	Rectal Smooth Muscle	rectum
36	chr1:85069200-85070200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:85069200-85070200	Flanking Active TSS	HSMMtube	muscle
38	chr1:85069200-85070400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr1:85069200-85070400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:85069200-85070400	Flanking Active TSS	HUVEC	blood vessel
41	chr1:85069400-85069600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:85069400-85069600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:85069400-85069600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr1:85069400-85069600	Flanking Active TSS	NHLF	lung
45	chr1:85069400-85069800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:85069400-85069800	Active TSS	HSMM	muscle
47	chr1:85069400-85069800	Active TSS	NHDF-Ad	bronchial
48	chr1:85069400-85070000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:85069400-85070000	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr1:85069400-85070000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links