Variant report

Variant	nsv312
Chromosome Location	chr11:47047247-47072397
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	ARID3A	chr11:47050001-47050005	K562	blood:	n/a	n/a
2	ATF1	chr11:47056675-47056990	K562	blood:	n/a	n/a
3	ATF1	chr11:47050378-47050512	K562	blood:	n/a	n/a
4	CEBPB	chr11:47047958-47048069	Hela-S3	cervix:	n/a	chr11:47048011-47048024 chr11:47048013-47048024 chr11:47048013-47048022
5	CEBPB	chr11:47047976-47048082	HepG2	liver:	n/a	chr11:47048011-47048024 chr11:47048013-47048024 chr11:47048013-47048022
6	CEBPB	chr11:47047918-47048077	IMR90	lung:	n/a	chr11:47048011-47048024 chr11:47048013-47048024 chr11:47048013-47048022
7	CEBPB	chr11:47063584-47063778	K562	blood:	n/a	n/a
8	CEBPB	chr11:47050142-47050517	K562	blood:	n/a	chr11:47050243-47050254 chr11:47050243-47050254
9	CEBPB	chr11:47063595-47063754	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr11:47061379-47061451	GM13976	blood:	n/a	n/a
11	CTCF	chr11:47054957-47055021	GM20000	blood:	n/a	n/a
12	CUX1	chr11:47069654-47069897	GM12878	blood:	n/a	n/a
13	CUX1	chr11:47063914-47063925	GM12878	blood:	n/a	n/a
14	E2F4	chr11:47052743-47052879	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr11:47054750-47054867	MCF10A-Er-Src	breast:	n/a	n/a
16	ELF1	chr11:47056656-47056919	K562	blood:	n/a	n/a
17	EP300	chr11:47066665-47066666	K562	blood:	n/a	n/a
18	EP300	chr11:47071769-47071916	GM12878	blood:	n/a	n/a
19	EP300	chr11:47054994-47055279	SK-N-SH_RA	brain:	n/a	n/a
20	FOSL2	chr11:47061252-47061433	HepG2	liver:	n/a	n/a
21	GATA2	chr11:47054935-47055323	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr11:47054811-47055403	SK-N-SH	brain:	n/a	n/a
23	GATA3	chr11:47056653-47056797	SH-SY5Y	brain:	n/a	n/a
24	GATA3	chr11:47071954-47072467	SH-SY5Y	brain:	n/a	chr11:47072045-47072062
25	GATA3	chr11:47054967-47055377	SK-N-SH	brain:	n/a	n/a
26	GATA3	chr11:47054929-47055270	SH-SY5Y	brain:	n/a	n/a
27	JUND	chr11:47050289-47050504	K562	blood:	n/a	n/a
28	MAFF	chr11:47065718-47066028	HepG2	liver:	n/a	chr11:47065853-47065871
29	MAFF	chr11:47065746-47066040	K562	blood:	n/a	chr11:47065853-47065871
30	MAFF	chr11:47049853-47050008	K562	blood:	n/a	n/a
31	MAFK	chr11:47065753-47066030	Hela-S3	cervix:	n/a	chr11:47065854-47065870 chr11:47065858-47065869 chr11:47065854-47065869 chr11:47065858-47065869 chr11:47065859-47065870
32	MAFK	chr11:47049846-47050076	HepG2	liver:	n/a	chr11:47049950-47049961
33	MAFK	chr11:47065747-47065998	HepG2	liver:	n/a	chr11:47065854-47065870 chr11:47065858-47065869 chr11:47065854-47065869 chr11:47065858-47065869 chr11:47065859-47065870
34	MAFK	chr11:47049815-47050052	HepG2	liver:	n/a	chr11:47049950-47049961
35	MAFK	chr11:47049824-47050095	IMR90	lung:	n/a	chr11:47049950-47049961
36	MAFK	chr11:47063813-47063910	HepG2	liver:	n/a	chr11:47063878-47063889 chr11:47063877-47063888
37	MAFK	chr11:47065735-47065975	K562	blood:	n/a	chr11:47065854-47065870 chr11:47065858-47065869 chr11:47065854-47065869 chr11:47065858-47065869 chr11:47065859-47065870
38	MAFK	chr11:47047550-47047579	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAFK	chr11:47065700-47066046	IMR90	lung:	n/a	chr11:47065854-47065870 chr11:47065858-47065869 chr11:47065854-47065869 chr11:47065858-47065869 chr11:47065859-47065870
40	MAFK	chr11:47049897-47050030	K562	blood:	n/a	chr11:47049950-47049961
41	MAFK	chr11:47065686-47066039	HepG2	liver:	n/a	chr11:47065854-47065870 chr11:47065858-47065869 chr11:47065854-47065869 chr11:47065858-47065869 chr11:47065859-47065870
42	MYC	chr11:47060854-47060996	MCF-7	breast:	n/a	n/a
43	MYC	chr11:47057126-47057511	A549	lung:	n/a	n/a
44	NR2F2	chr11:47058941-47059324	K562	blood:	n/a	n/a
45	PAX5	chr11:47060680-47061085	GM12878	blood:	n/a	n/a
46	PAX5	chr11:47060605-47061114	GM12878	blood:	n/a	n/a
47	PAX5	chr11:47060707-47061097	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:47048286-47048314	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:47059624-47059728	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr11:47065251-47065315	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47043884..47045816-chr11:47048717..47051419,2	K562	blood:
2	chr11:47048648..47051358-chr11:47053601..47056863,3	K562	blood:
3	chr11:47041841..47045384-chr11:47049919..47053840,3	K562	blood:
4	chr11:47048648..47051358-chr11:47053601..47056863,3	K562	blood:

Variant related genes	Relation type
C11orf49	TF binding region
ENSG00000271350	TF binding region

Extended variants
information (count: 690 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:690 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11602803	chr11:47047314-47047315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576488272	chr11:47047341-47047342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542270689	chr11:47047365-47047366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562160648	chr11:47047387-47047388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527827626	chr11:47047391-47047392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74318746	chr11:47047410-47047411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181642945	chr11:47047429-47047430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186744304	chr11:47047481-47047482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143927814	chr11:47047536-47047537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552205829	chr11:47047554-47047555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190073427	chr11:47047642-47047643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71474201	chr11:47047694-47047695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531190137	chr11:47047744-47047745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182394992	chr11:47047777-47047778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566056516	chr11:47047780-47047781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567809343	chr11:47047822-47047823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534702537	chr11:47047950-47047951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199989221	chr11:47047992-47047993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185092167	chr11:47048110-47048111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554311177	chr11:47048156-47048157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539875046	chr11:47048167-47048168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570980672	chr11:47048170-47048171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201082588	chr11:47048182-47048183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578185620	chr11:47048278-47048279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543765554	chr11:47048332-47048333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540053957	chr11:47048388-47048389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563983344	chr11:47048390-47048391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147277898	chr11:47048468-47048469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201079247	chr11:47048495-47048496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189604668	chr11:47048535-47048536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535847015	chr11:47048591-47048592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555801696	chr11:47048592-47048593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572531127	chr11:47048593-47048594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541181222	chr11:47048638-47048639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560265360	chr11:47048641-47048642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546011921	chr11:47048642-47048643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs5791752	chr11:47048700-47048701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562431374	chr11:47048858-47048859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531543426	chr11:47048863-47048864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547746394	chr11:47048869-47048870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184119991	chr11:47048932-47048933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527354550	chr11:47048981-47048982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547155877	chr11:47048982-47048983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543042765	chr11:47049044-47049045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570562297	chr11:47049064-47049065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112227504	chr11:47049080-47049081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559299844	chr11:47049098-47049099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76388524	chr11:47049112-47049113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570316712	chr11:47049119-47049120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142169646	chr11:47049129-47049130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47026800-47080200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:47027400-47056000	Weak transcription	Fetal Intestine Small	intestine
3	chr11:47027800-47048000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:47043000-47050000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:47043200-47047600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:47043200-47049000	Weak transcription	Fetal Lung	lung
7	chr11:47043200-47055200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:47043600-47054800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:47043800-47048800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:47043800-47055800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:47045400-47047800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:47045800-47056600	Weak transcription	Hela-S3	cervix
13	chr11:47047600-47048000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr11:47047800-47049000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:47047800-47049400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:47048600-47048800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr11:47048800-47049200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:47048800-47049200	Enhancers	Fetal Muscle Leg	muscle
19	chr11:47048800-47058000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:47049000-47049200	Enhancers	Fetal Lung	lung
21	chr11:47049200-47050400	Weak transcription	Brain Substantia Nigra	brain
22	chr11:47049200-47055000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:47049400-47054600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:47050000-47050400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:47050000-47050400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:47050000-47050600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr11:47050000-47050600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:47050400-47050600	Enhancers	Brain Substantia Nigra	brain
29	chr11:47050400-47055200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:47050600-47056000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:47053400-47077600	Weak transcription	Primary T cells from cord blood	blood
32	chr11:47054400-47055400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:47054400-47055400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr11:47054600-47054800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr11:47054600-47055400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:47054600-47055400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:47054600-47055600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr11:47054800-47055400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:47054800-47055400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr11:47054800-47055600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:47054800-47055600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr11:47054800-47055600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:47055000-47055200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr11:47055000-47055200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:47055000-47055400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr11:47055000-47055400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr11:47055000-47055400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:47055000-47055400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr11:47055000-47055400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:47055000-47055400	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links