Variant report

Variant	nsv934081
Chromosome Location	chr1:47753192-47755154
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	ATF2	chr1:47754919-47755369	GM12878	blood:	n/a	n/a
2	ATF2	chr1:47754882-47755437	GM12878	blood:	n/a	n/a
3	BATF	chr1:47754967-47755473	GM12878	blood:	n/a	chr1:47755268-47755277
4	BATF	chr1:47754987-47755343	GM12878	blood:	n/a	chr1:47755268-47755277
5	BCL11A	chr1:47754963-47755299	GM12878	blood:	n/a	n/a
6	BCL11A	chr1:47755004-47755328	GM12878	blood:	n/a	n/a
7	BHLHE40	chr1:47754945-47755387	GM12878	blood:	n/a	n/a
8	CEBPB	chr1:47755090-47755344	A549	lung:	n/a	n/a
9	CREB1	chr1:47754830-47755451	GM12878	blood:	n/a	n/a
10	CREB1	chr1:47754988-47755428	GM12878	blood:	n/a	n/a
11	CTCF	chr1:47754033-47754048	GM20000	blood:	n/a	n/a
12	EBF1	chr1:47755031-47755322	GM12878	blood:	n/a	n/a
13	EP300	chr1:47755012-47755345	GM12878	blood:	n/a	n/a
14	EP300	chr1:47754969-47755512	GM12878	blood:	n/a	chr1:47754985-47754995
15	EP300	chr1:47754933-47755474	GM12878	blood:	n/a	chr1:47754985-47754995
16	FOXM1	chr1:47754907-47755433	GM12878	blood:	n/a	n/a
17	IKZF1	chr1:47754983-47755226	GM12878	blood:	n/a	n/a
18	IRF1	chr1:47755002-47755291	K562	blood:	n/a	n/a
19	IRF4	chr1:47754921-47755294	GM12878	blood:	n/a	n/a
20	IRF4	chr1:47754989-47755352	GM12878	blood:	n/a	n/a
21	MEF2A	chr1:47754964-47755356	GM12878	blood:	n/a	n/a
22	MXI1	chr1:47754810-47755301	GM12878	blood:	n/a	n/a
23	NFIC	chr1:47754698-47755534	GM12878	blood:	n/a	n/a
24	POLR2A	chr1:47754020-47754128	HepG2	liver:	n/a	n/a
25	RCOR1	chr1:47755039-47755521	GM12878	blood:	n/a	n/a
26	RUNX3	chr1:47754973-47755364	GM12878	blood:	n/a	n/a
27	RUNX3	chr1:47754845-47755442	GM12878	blood:	n/a	n/a
28	SP1	chr1:47754994-47755330	GM12878	blood:	n/a	n/a
29	SPI1	chr1:47755046-47755222	GM12878	blood:	n/a	n/a
30	SPI1	chr1:47753858-47754087	HL-60	blood:	n/a	n/a
31	SPI1	chr1:47753846-47754098	GM12891	blood:	n/a	n/a
32	SPI1	chr1:47753871-47754211	GM12891	blood:	n/a	n/a
33	SPI1	chr1:47753865-47754110	GM12878	blood:	n/a	n/a
34	STAT5A	chr1:47754931-47755329	GM12878	blood:	n/a	n/a
35	TBL1XR1	chr1:47755016-47755379	GM12878	blood:	n/a	n/a
36	ZNF384	chr1:47755042-47755412	GM12878	blood:	n/a	n/a
37	ZNF384	chr1:47753845-47754119	GM12878	blood:	n/a	n/a
38	ZNF384	chr1:47754756-47754802	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47744627..47746467-chr1:47754949..47756563,2	K562	blood:
2	chr1:47752784..47754896-chr1:47756720..47759592,2	K562	blood:

Variant related genes	Relation type
STIL	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374382017	chr1:47753197-47753198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539623822	chr1:47753213-47753214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75426387	chr1:47753287-47753288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138235440	chr1:47753288-47753289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184044615	chr1:47753296-47753297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141678367	chr1:47753301-47753302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574341230	chr1:47753302-47753303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188900275	chr1:47753336-47753337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12125261	chr1:47753405-47753406	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs12239246	chr1:47753424-47753425	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs552392883	chr1:47753467-47753468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192673947	chr1:47753472-47753473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564233523	chr1:47753480-47753481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531845890	chr1:47753531-47753532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550219969	chr1:47753548-47753549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116403336	chr1:47753557-47753558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535829308	chr1:47753586-47753587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115841723	chr1:47753669-47753670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566031182	chr1:47753697-47753698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183675649	chr1:47753776-47753777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75918123	chr1:47753824-47753825	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs576199386	chr1:47753829-47753830	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs537559303	chr1:47753830-47753831	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs550863647	chr1:47753845-47753846	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs556208039	chr1:47753874-47753875	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs369477854	chr1:47753889-47753890	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs75829391	chr1:47753950-47753951	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs541804652	chr1:47753984-47753985	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs560476073	chr1:47753988-47753989	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs564853718	chr1:47753991-47753992	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs186795999	chr1:47754032-47754033	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs572381252	chr1:47754045-47754046	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs546074291	chr1:47754077-47754078	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs376571668	chr1:47754085-47754086	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs191638443	chr1:47754090-47754091	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs150571284	chr1:47754095-47754096	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs184310208	chr1:47754204-47754205	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs550044239	chr1:47754220-47754221	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562192293	chr1:47754221-47754222	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529318737	chr1:47754244-47754245	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547777149	chr1:47754251-47754252	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190224304	chr1:47754256-47754257	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565688597	chr1:47754269-47754270	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539763293	chr1:47754345-47754346	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369103485	chr1:47754408-47754409	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538434627	chr1:47754565-47754566	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200630682	chr1:47754585-47754586	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551620970	chr1:47754589-47754590	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139557589	chr1:47754599-47754600	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537630494	chr1:47754619-47754620	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
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
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
Chronic myeloid leukemia	21384125	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
Muscle-eye-brain disease	21572526	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Meckel-Gruber syndrome	21572526	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47705200-47766400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:47705600-47766400	Weak transcription	Primary T cells from cord blood	blood
3	chr1:47714400-47779200	Weak transcription	Small Intestine	intestine
4	chr1:47714600-47778400	Weak transcription	Fetal Heart	heart
5	chr1:47716600-47772600	Strong transcription	Dnd41	blood
6	chr1:47720400-47757000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:47720600-47766400	Weak transcription	Brain Germinal Matrix	brain
8	chr1:47721600-47766800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:47723400-47772400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:47728600-47755200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:47729000-47767000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:47730400-47770200	Weak transcription	Colonic Mucosa	Colon
13	chr1:47730800-47755000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:47730800-47766400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:47731400-47778000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:47735200-47754000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:47735400-47779000	Weak transcription	Esophagus	oesophagus
18	chr1:47740400-47757200	Weak transcription	Gastric	stomach
19	chr1:47741400-47771400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:47741600-47754000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr1:47741600-47770800	Strong transcription	Fetal Thymus	thymus
22	chr1:47741800-47770800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:47742600-47773000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:47742600-47773000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:47742800-47757000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:47742800-47763800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:47743000-47753600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:47743200-47754000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:47743800-47766400	Weak transcription	Fetal Kidney	kidney
30	chr1:47743800-47779200	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:47744200-47779000	Weak transcription	Brain Angular Gyrus	brain
32	chr1:47744400-47779000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:47744600-47754600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr1:47744800-47779000	Weak transcription	HSMMtube	muscle
35	chr1:47745000-47762000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr1:47746200-47772000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:47746200-47778800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:47746400-47754000	Weak transcription	Primary B cells from cord blood	blood
39	chr1:47746400-47758200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:47746600-47758000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:47746600-47765400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:47746600-47772200	Weak transcription	Ovary	ovary
43	chr1:47746600-47776400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:47746600-47778400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:47746600-47778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:47746600-47778400	Weak transcription	Fetal Brain Female	brain
47	chr1:47746800-47755200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:47746800-47755200	Weak transcription	Fetal Intestine Large	intestine
49	chr1:47746800-47756400	Weak transcription	HMEC	breast
50	chr1:47746800-47766400	Weak transcription	NHLF	lung

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