Variant report

Variant	esv2461577
Chromosome Location	chr1:114342197-114343380
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	chr1:114333134..114336494-chr1:114338300..114342659,7	MCF-7	breast:
2	chr1:114332261..114335677-chr1:114340949..114344053,3	K562	blood:
3	chr1:114336958..114338587-chr1:114341807..114343723,2	MCF-7	breast:
4	chr1:114328514..114333064-chr1:114341407..114344891,4	MCF-7	breast:
5	chr1:114328870..114331856-chr1:114340640..114342248,2	K562	blood:
6	chr1:114336286..114339654-chr1:114341574..114345200,4	K562	blood:
7	chr1:114335490..114338068-chr1:114340379..114342249,2	MCF-7	breast:
8	chr1:114339066..114343299-chr1:114345760..114348770,4	K562	blood:
9	chr1:114300171..114302941-chr1:114342203..114345014,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000116793	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs66966324	chr1:114342219-114342220	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs571413727	chr1:114342247-114342248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539223630	chr1:114342251-114342252	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs187654690	chr1:114342266-114342267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs191724404	chr1:114342339-114342340	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148561484	chr1:114342354-114342355	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs72990454	chr1:114342361-114342362	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs374361305	chr1:114342406-114342407	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566217158	chr1:114342502-114342503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536972364	chr1:114342519-114342520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547065921	chr1:114342708-114342709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551173074	chr1:114342805-114342806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs114443065	chr1:114342840-114342841	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538926470	chr1:114342849-114342850	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147330570	chr1:114342860-114342861	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559221384	chr1:114342895-114342896	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs569083657	chr1:114342971-114342972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs35195351	chr1:114343186-114343187	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs117327036	chr1:114343254-114343255	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs1217380	chr1:114343336-114343337	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs574584555	chr1:114343337-114343338	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184277487	chr1:114343348-114343349	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	17440070	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114303400-114353800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:114309600-114353400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:114319800-114352600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:114320000-114354000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:114327400-114348800	Weak transcription	Spleen	Spleen
6	chr1:114327400-114351200	Weak transcription	Fetal Brain Male	brain
7	chr1:114329200-114345800	Weak transcription	Small Intestine	intestine
8	chr1:114329200-114353600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:114332000-114346400	Weak transcription	Gastric	stomach
10	chr1:114332000-114346800	Weak transcription	Brain Substantia Nigra	brain
11	chr1:114332400-114346600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:114332400-114347200	Weak transcription	Right Atrium	heart
13	chr1:114332400-114353400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:114336000-114351200	Weak transcription	Fetal Brain Female	brain
15	chr1:114336200-114351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:114336200-114351200	Weak transcription	HMEC	breast
17	chr1:114336400-114347000	Weak transcription	NHLF	lung
18	chr1:114336600-114347000	Weak transcription	NHEK	skin
19	chr1:114336600-114347200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:114336600-114347200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:114336800-114343600	Weak transcription	Pancreas	Pancrea
22	chr1:114336800-114346400	Weak transcription	Psoas Muscle	Psoas
23	chr1:114336800-114348400	Weak transcription	Fetal Stomach	stomach
24	chr1:114336800-114349400	Weak transcription	Lung	lung
25	chr1:114337200-114352600	Weak transcription	Fetal Kidney	kidney
26	chr1:114337600-114346000	Weak transcription	Stomach Mucosa	stomach
27	chr1:114337600-114347000	Weak transcription	Osteobl	bone
28	chr1:114338000-114347000	Weak transcription	Fetal Intestine Small	intestine
29	chr1:114338600-114347000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:114339000-114346800	Weak transcription	HUVEC	blood vessel
31	chr1:114339800-114343200	Weak transcription	HSMMtube	muscle
32	chr1:114340000-114351800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:114340400-114345400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:114340400-114347000	Weak transcription	HSMM	muscle
35	chr1:114340400-114347000	Weak transcription	NHDF-Ad	bronchial
36	chr1:114340400-114352800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:114340600-114342600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:114340600-114342800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:114340600-114342800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:114340600-114342800	Weak transcription	GM12878-XiMat	blood
41	chr1:114340600-114343000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:114340600-114343000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:114340600-114343400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:114340600-114343600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr1:114340600-114343600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:114340600-114345400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:114340600-114345400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:114340600-114346400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:114340600-114346400	Weak transcription	Placenta	Placenta
50	chr1:114340600-114346400	Weak transcription	Left Ventricle	heart

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