Variant report

Variant	esv3368126
Chromosome Location	chr1:70650840-70651235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:70650891-70651087	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70645372..70647137-chr1:70649997..70652208,2	K562	blood:

Variant related genes	Relation type
RN7SL242P	TF binding region
ENSG00000244389	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569149270	chr1:70650847-70650848	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs567671150	chr1:70650902-70650903	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs538051837	chr1:70650911-70650912	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs77306714	chr1:70650986-70650987	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs558126329	chr1:70651002-70651003	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs61785270	chr1:70651015-70651016	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs191028921	chr1:70651044-70651045	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs553756030	chr1:70651056-70651057	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs573761083	chr1:70651109-70651110	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112898194	chr1:70651137-70651138	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562671493	chr1:70651153-70651154	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371269920	chr1:70651203-70651204	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545199269	chr1:70651219-70651220	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs565000949	chr1:70651222-70651223	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527607215	chr1:70651223-70651224	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	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
Melanoma	17363583	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
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70601200-70652000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:70606800-70651600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:70606800-70661800	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:70607000-70670200	Weak transcription	Psoas Muscle	Psoas
5	chr1:70607000-70670400	Weak transcription	Small Intestine	intestine
6	chr1:70607200-70652600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:70607400-70655200	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:70608400-70653400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:70608800-70654800	Weak transcription	Thymus	Thymus
10	chr1:70608800-70655800	Weak transcription	Esophagus	oesophagus
11	chr1:70609600-70661200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:70610000-70656600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:70610000-70667800	Weak transcription	HepG2	liver
14	chr1:70610400-70653600	Weak transcription	Gastric	stomach
15	chr1:70610600-70669600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:70611000-70666600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:70611200-70670400	Weak transcription	Pancreas	Pancrea
18	chr1:70611400-70652800	Weak transcription	Spleen	Spleen
19	chr1:70612400-70669000	Weak transcription	HUVEC	blood vessel
20	chr1:70613400-70658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:70613600-70657000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:70613600-70667800	Weak transcription	Brain Angular Gyrus	brain
23	chr1:70613800-70658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:70614400-70651000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:70614400-70657800	Weak transcription	Fetal Kidney	kidney
26	chr1:70615000-70670000	Weak transcription	NH-A	brain
27	chr1:70615000-70670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:70622600-70651400	Weak transcription	HMEC	breast
29	chr1:70623000-70656600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:70623000-70661600	Weak transcription	K562	blood
31	chr1:70623200-70652000	Weak transcription	Osteobl	bone
32	chr1:70629800-70669600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:70632600-70656800	Weak transcription	NHLF	lung
34	chr1:70634000-70670400	Weak transcription	Lung	lung
35	chr1:70634200-70658000	Weak transcription	Brain Germinal Matrix	brain
36	chr1:70634400-70670200	Weak transcription	Fetal Stomach	stomach
37	chr1:70634600-70656800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:70634800-70651000	Weak transcription	Primary T cells from cord blood	blood
39	chr1:70635000-70670600	Weak transcription	Aorta	Aorta
40	chr1:70635400-70656200	Weak transcription	Fetal Heart	heart
41	chr1:70637600-70651800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:70638600-70661400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:70639800-70670200	Weak transcription	Placenta	Placenta
44	chr1:70640600-70654000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:70641400-70652200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:70643000-70652000	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:70643600-70652000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:70643600-70656600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:70643600-70668600	Weak transcription	Fetal Brain Female	brain
50	chr1:70643800-70653000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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