Variant report

Variant	nsv946079
Chromosome Location	chr1:93307188-93307819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr1:93307642-93307891	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr1:93307262-93307475	T-47D	breast:	n/a	n/a
3	EP300	chr1:93307239-93307492	T-47D	breast:	n/a	n/a
4	POLR2A	chr1:93307492-93310387	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr1:93307484-93310025	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr1:93307760-93307925	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:93307581-93308002	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr1:93305800-93310164	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:93307662-93310170	HCT-116	colon:	n/a	n/a
10	POLR2A	chr1:93304662-93310254	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr1:93307540-93309896	K562	blood:	n/a	n/a
12	POLR2A	chr1:93307524-93309814	K562	blood:	n/a	n/a
13	POLR2A	chr1:93307645-93309882	K562	blood:	n/a	n/a
14	POLR2A	chr1:93306967-93307196	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:93307329-93307371	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr1:93307641-93309767	K562	blood:	n/a	n/a
17	POLR2A	chr1:93301216-93310285	K562	blood:	n/a	n/a
18	POLR2A	chr1:93307611-93307935	GM12892	blood:	n/a	n/a
19	POLR2A	chr1:93307591-93308042	GM12892	blood:	n/a	n/a
20	POLR2A	chr1:93307533-93309855	GM12892	blood:	n/a	n/a
21	POLR2A	chr1:93307499-93309976	GM18505	blood:	n/a	n/a
22	POLR2A	chr1:93307559-93310079	HepG2	liver:	n/a	n/a
23	POLR2A	chr1:93307541-93307985	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:93307510-93307567	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr1:93307668-93309908	GM12891	blood:	n/a	n/a
26	POLR2A	chr1:93307606-93310109	A549	lung:	n/a	n/a
27	POLR2A	chr1:93307557-93307974	GM12891	blood:	n/a	n/a
28	POLR2A	chr1:93307248-93310350	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr1:93307268-93310243	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr1:93307582-93310204	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:93306866-93307213	GM12892	blood:	n/a	n/a
32	POLR2A	chr1:93307706-93309850	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr1:93307617-93308960	K562	blood:	n/a	n/a
34	POLR2A	chr1:93307556-93308088	GM12892	blood:	n/a	n/a
35	POLR2A	chr1:93307603-93309867	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:93307327-93307401	K562	blood:	n/a	n/a
37	POLR2A	chr1:93306729-93307216	HepG2	liver:	n/a	n/a
38	POLR2A	chr1:93307732-93308015	GM12891	blood:	n/a	n/a
39	POLR2A	chr1:93307717-93307995	HepG2	liver:	n/a	n/a
40	POLR2A	chr1:93307521-93309930	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:93307478-93307505	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr1:93307016-93309802	K562	blood:	n/a	n/a
43	POLR2A	chr1:93306496-93307212	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr1:93307597-93307679	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr1:93307509-93309839	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr1:93304734-93310132	GM12891	blood:	n/a	n/a
47	POLR2A	chr1:93307637-93310006	K562	blood:	n/a	n/a
48	POLR2A	chr1:93306161-93310316	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr1:93307694-93307889	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr1:93307514-93310141	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:93250918..93254010-chr1:93306747..93309482,3	K562	blood:
2	chr1:93307013..93308611-chr1:93460458..93462751,2	K562	blood:
3	chr1:93211573..93213718-chr1:93306717..93309071,2	K562	blood:
4	chr1:93248499..93251010-chr1:93306404..93307920,2	K562	blood:
5	chr1:93251519..93253551-chr1:93306747..93308884,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000207022	TF binding region
ENSG00000067208	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112571271	chr1:93307213-93307214	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs191899046	chr1:93307221-93307222	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs184728588	chr1:93307245-93307246	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs564973166	chr1:93307248-93307249	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs578144918	chr1:93307252-93307253	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs147661498	chr1:93307275-93307276	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs142468589	chr1:93307280-93307281	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs201107238	chr1:93307285-93307286	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs547082637	chr1:93307301-93307302	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs41286819	chr1:93307302-93307303	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs373897566	chr1:93307367-93307368	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs368043950	chr1:93307368-93307369	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376641112	chr1:93307374-93307375	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs150997222	chr1:93307402-93307403	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs200315052	chr1:93307405-93307406	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs11540833	chr1:93307423-93307424	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs571701737	chr1:93307429-93307430	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs538453418	chr1:93307457-93307458	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs72968037	chr1:93307469-93307470	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs565661827	chr1:93307481-93307482	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs35172611	chr1:93307484-93307485	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs188851753	chr1:93307516-93307517	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs139252989	chr1:93307526-93307527	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs536109849	chr1:93307538-93307539	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs568368652	chr1:93307561-93307562	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs554836367	chr1:93307659-93307660	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs535890391	chr1:93307667-93307668	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs148981961	chr1:93307711-93307712	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs575981973	chr1:93307732-93307733	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs542426640	chr1:93307743-93307744	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs143742255	chr1:93307749-93307750	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	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
Acute lymphoblastic leukemia	22237106	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93299200-93310400	Strong transcription	Fetal Muscle Trunk	muscle
2	chr1:93299400-93307200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:93299400-93309200	Strong transcription	Placenta Amnion	Placenta Amnion
4	chr1:93299600-93309000	Weak transcription	Esophagus	oesophagus
5	chr1:93299600-93309800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:93299600-93310000	Strong transcription	Placenta	Placenta
7	chr1:93299600-93310400	Strong transcription	Fetal Thymus	thymus
8	chr1:93299800-93310600	Strong transcription	Fetal Intestine Large	intestine
9	chr1:93299800-93311600	Strong transcription	Fetal Muscle Leg	muscle
10	chr1:93300000-93309800	Strong transcription	Thymus	Thymus
11	chr1:93300000-93310000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:93300000-93310000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:93300000-93310200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:93300200-93308000	Strong transcription	Colonic Mucosa	Colon
15	chr1:93300200-93309200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:93300200-93310000	Strong transcription	HSMMtube	muscle
17	chr1:93300200-93310200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:93300200-93310400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:93300400-93310000	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr1:93300400-93316000	Strong transcription	Primary B cells from cord blood	blood
21	chr1:93300600-93308800	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr1:93300600-93309200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:93300600-93310000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:93300800-93309000	Weak transcription	Spleen	Spleen
25	chr1:93300800-93310000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:93300800-93310200	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr1:93300800-93310200	Strong transcription	HSMM	muscle
28	chr1:93300800-93310400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:93301000-93309600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:93301000-93309800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:93301000-93310000	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr1:93301000-93310200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:93301000-93310200	Strong transcription	Brain Germinal Matrix	brain
34	chr1:93301000-93318400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr1:93301400-93311600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:93301600-93310600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr1:93302000-93310200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:93302000-93310400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr1:93302200-93310000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:93302400-93307400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:93302400-93310200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:93302600-93310200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:93302600-93310200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:93302600-93310200	Strong transcription	Primary hematopoietic stem cells	blood
45	chr1:93303000-93317200	Weak transcription	Right Ventricle	heart
46	chr1:93303400-93310200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:93303600-93309800	Strong transcription	K562	blood
48	chr1:93303800-93309800	Strong transcription	A549	lung
49	chr1:93303800-93310000	Strong transcription	Brain Substantia Nigra	brain
50	chr1:93303800-93310000	Strong transcription	NH-A	brain

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