Variant report

Variant	esv3322419
Chromosome Location	chr1:85844503-85845234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85839536..85841245-chr1:85843364..85846261,2	K562	blood:
2	chr1:85843890..85846384-chr1:85930341..85931976,2	MCF-7	breast:
3	chr1:85839315..85841036-chr1:85844742..85846261,2	K562	blood:

Variant related genes	Relation type
ENSG00000153904	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537160707	chr1:85844548-85844549	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs729655	chr1:85844617-85844618	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576554867	chr1:85844657-85844658	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542474944	chr1:85844668-85844669	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2011825	chr1:85844671-85844672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572819968	chr1:85844675-85844676	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs71652697	chr1:85844677-85844678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs561398432	chr1:85844690-85844691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs377690108	chr1:85844705-85844706	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs28462335	chr1:85844804-85844805	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541389639	chr1:85844827-85844828	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs4512701	chr1:85844835-85844836	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs4631749	chr1:85844852-85844853	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532586959	chr1:85844915-85844916	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563660866	chr1:85844970-85844971	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529070131	chr1:85845078-85845079	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552693428	chr1:85845101-85845102	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146896617	chr1:85845102-85845103	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565635080	chr1:85845117-85845118	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs116035390	chr1:85845150-85845151	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
small cell lung cancer	20016488	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85839400-85846400	Weak transcription	Small Intestine	intestine
2	chr1:85839800-85864200	Weak transcription	Aorta	Aorta
3	chr1:85840000-85844800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:85840000-85844800	Weak transcription	Ovary	ovary
5	chr1:85840000-85845200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:85840200-85844800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:85840200-85844800	Weak transcription	Fetal Stomach	stomach
8	chr1:85840200-85845200	Weak transcription	HepG2	liver
9	chr1:85840200-85845400	Weak transcription	NHLF	lung
10	chr1:85840200-85845600	Weak transcription	Psoas Muscle	Psoas
11	chr1:85840400-85845200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:85840400-85845200	Weak transcription	HSMM	muscle
13	chr1:85840400-85845400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:85840400-85848000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:85841200-85851400	Weak transcription	Pancreas	Pancrea
16	chr1:85841200-85859800	Weak transcription	NH-A	brain
17	chr1:85841600-85844800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:85841800-85844800	Weak transcription	Brain Anterior Caudate	brain
19	chr1:85841800-85845000	Weak transcription	Fetal Intestine Small	intestine
20	chr1:85841800-85848000	Weak transcription	NHDF-Ad	bronchial
21	chr1:85842000-85844800	Weak transcription	Liver	Liver
22	chr1:85842000-85845200	Weak transcription	Fetal Lung	lung
23	chr1:85842000-85850800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:85842400-85845000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:85842400-85845400	Weak transcription	Fetal Kidney	kidney
26	chr1:85842400-85847200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:85842600-85846000	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:85842600-85847800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:85842800-85847200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:85842800-85847600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:85843000-85845200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:85843200-85845000	Weak transcription	Osteobl	bone
33	chr1:85843600-85844800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:85844200-85844600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:85844200-85845200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr1:85844200-85845400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:85844200-85845800	Enhancers	Fetal Muscle Leg	muscle
38	chr1:85844400-85845000	Enhancers	HSMMtube	muscle
39	chr1:85844800-85845400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:85844800-85845400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr1:85844800-85845600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:85844800-85846200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:85844800-85846200	Enhancers	Liver	Liver
44	chr1:85844800-85846200	Enhancers	Brain Anterior Caudate	brain
45	chr1:85844800-85846200	Enhancers	Fetal Stomach	stomach
46	chr1:85844800-85846200	Enhancers	Ovary	ovary
47	chr1:85845000-85848000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:85845000-85852800	Strong transcription	Osteobl	bone
49	chr1:85845000-85870000	Weak transcription	HSMMtube	muscle
50	chr1:85845200-85845400	Enhancers	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links