Variant report

Variant	nsv523951
Chromosome Location	chr1:93793851-93795163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr1:93794625-93794801	GM12878	blood:	n/a	n/a
2	MAFK	chr1:93794330-93794518	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:93794025-93795046	K562	blood:	n/a	n/a
4	POLR2A	chr1:93794849-93794893	ProgFib	skin:	n/a	n/a
5	POLR2A	chr1:93794732-93794756	K562	blood:	n/a	n/a
6	SPI1	chr1:93794406-93794799	GM12891	blood:	n/a	n/a
7	SPI1	chr1:93794517-93794709	GM12878	blood:	n/a	n/a
8	TCF12	chr1:93794545-93794746	GM12878	blood:	n/a	chr1:93794697-93794704
9	TCF12	chr1:93794215-93794896	SK-N-SH	brain:	n/a	chr1:93794697-93794704
10	TCF3	chr1:93794316-93794859	GM12878	blood:	n/a	n/a
11	TCF3	chr1:93794378-93794743	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:93788135..93790558-chr1:93790563..93794181,3	K562	blood:
2	chr1:93792575..93795047-chr1:93809728..93812578,2	K562	blood:
3	chr1:93793661..93797290-chr1:93805926..93809295,5	MCF-7	breast:
4	chr1:93779027..93781639-chr1:93793756..93796548,2	K562	blood:
5	chr1:93794370..93796630-chr1:93807088..93808805,2	K562	blood:
6	chr1:93793462..93796127-chr1:93796578..93799399,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DR1-1	chr1:93795119-93796358	XLOC_000294
2	lnc-TMED5-1	chr1:93792580-93803825	NONHSAT004520

No data

Variant related genes	Relation type
ENSG00000223745	TF binding region
ENSG00000117505	chromatin interactions
ENSG00000223745	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7519163	chr1:93793851-93793852	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144424992	chr1:93793867-93793868	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs566219303	chr1:93793889-93793890	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs35194792	chr1:93793899-93793900	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs536985575	chr1:93793951-93793952	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs555161066	chr1:93793981-93793982	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs114656224	chr1:93794002-93794003	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs537515815	chr1:93794034-93794035	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs374553132	chr1:93794199-93794200	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs558801412	chr1:93794251-93794252	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs187302424	chr1:93794271-93794272	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs541048098	chr1:93794318-93794319	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs79576404	chr1:93794356-93794357	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs574378271	chr1:93794382-93794383	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs566987175	chr1:93794432-93794433	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs191286741	chr1:93794458-93794459	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs111418325	chr1:93794499-93794500	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs530638226	chr1:93794576-93794577	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs545456741	chr1:93794582-93794583	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs564009471	chr1:93794607-93794608	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs528217522	chr1:93794634-93794635	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs548673124	chr1:93794643-93794644	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs546268906	chr1:93794662-93794663	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs568057822	chr1:93794668-93794669	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs190435328	chr1:93794715-93794716	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs530372301	chr1:93794729-93794730	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs12027824	chr1:93794730-93794731	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs77739525	chr1:93794749-93794750	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs369366887	chr1:93794770-93794771	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs373318041	chr1:93794772-93794773	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs570231352	chr1:93794777-93794778	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs147201815	chr1:93794810-93794811	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs113612432	chr1:93794883-93794884	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs368563260	chr1:93794942-93794943	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs144564458	chr1:93794967-93794968	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs182154894	chr1:93795014-93795015	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs185839956	chr1:93795043-93795044	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs11800760	chr1:93795163-93795164	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93751600-93794600	Weak transcription	Brain Substantia Nigra	brain
2	chr1:93753000-93803600	Weak transcription	Adipose Nuclei	Adipose
3	chr1:93753200-93806400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:93755400-93802600	Weak transcription	Primary B cells from cord blood	blood
5	chr1:93755400-93803200	Weak transcription	Fetal Thymus	thymus
6	chr1:93755600-93803400	Weak transcription	Fetal Intestine Large	intestine
7	chr1:93755600-93804200	Weak transcription	Brain Anterior Caudate	brain
8	chr1:93755800-93801400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:93756000-93803800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr1:93765800-93809800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:93767800-93801400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:93768600-93803000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:93772600-93806000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:93779600-93804000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:93783000-93803400	Weak transcription	Left Ventricle	heart
16	chr1:93783800-93801200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:93784400-93804000	Weak transcription	Thymus	Thymus
18	chr1:93786200-93803800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:93789000-93797200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:93789000-93803800	Weak transcription	Placenta	Placenta
21	chr1:93789200-93810200	Weak transcription	Esophagus	oesophagus
22	chr1:93789600-93800400	Weak transcription	Primary T cells from cord blood	blood
23	chr1:93789600-93806600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:93790200-93794000	Weak transcription	Fetal Lung	lung
25	chr1:93790400-93794600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:93790400-93800200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:93790600-93794200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:93790600-93794400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:93790600-93804600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:93790800-93794000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:93790800-93794000	Weak transcription	NHLF	lung
32	chr1:93790800-93794200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:93790800-93803400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:93790800-93810000	Weak transcription	Fetal Intestine Small	intestine
35	chr1:93791000-93794000	Weak transcription	NHDF-Ad	bronchial
36	chr1:93791000-93794200	Weak transcription	NH-A	brain
37	chr1:93791000-93794400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:93791000-93794600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:93791000-93801600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:93791000-93802200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:93791200-93794400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:93791200-93802800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:93791200-93803800	Weak transcription	A549	lung
44	chr1:93791400-93794200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:93791400-93794200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:93791600-93794200	Weak transcription	Osteobl	bone
47	chr1:93791800-93797200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:93791800-93797200	Weak transcription	Stomach Mucosa	stomach
49	chr1:93792200-93794000	Weak transcription	HSMM	muscle
50	chr1:93792200-93794400	Weak transcription	Muscle Satellite Cultured Cells	--

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