Variant report

Variant	rs2293780
Chromosome Location	chr2:233635213-233635214
allele	A/G
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	MAFK	chr2:233634945-233635275	IMR90	lung:	n/a	chr2:233635108-233635119 chr2:233635106-233635120 chr2:233635107-233635118 chr2:233635107-233635118 chr2:233635107-233635123 chr2:233635107-233635122
2	MAFK	chr2:233634937-233635299	HepG2	liver:	n/a	chr2:233635108-233635119 chr2:233635106-233635120 chr2:233635107-233635118 chr2:233635107-233635118 chr2:233635107-233635123 chr2:233635107-233635122
3	MAFF	chr2:233635034-233635245	K562	blood:	n/a	chr2:233635105-233635123
4	MAFF	chr2:233634945-233635284	HepG2	liver:	n/a	chr2:233635105-233635123
5	MAFK	chr2:233634952-233635283	HepG2	liver:	n/a	chr2:233635108-233635119 chr2:233635106-233635120 chr2:233635107-233635118 chr2:233635107-233635118 chr2:233635107-233635123 chr2:233635107-233635122
6	MAFK	chr2:233635012-233635229	K562	blood:	n/a	chr2:233635108-233635119 chr2:233635106-233635120 chr2:233635107-233635118 chr2:233635107-233635118 chr2:233635107-233635123 chr2:233635107-233635122

Variant related genes	Relation type
ENSG00000241409	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10210953	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1022329	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10427328	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1078323	0.80[EUR][1000 genomes]
rs10933406	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1104764	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11688166	0.82[EUR][1000 genomes]
rs11689851	0.82[EUR][1000 genomes]
rs11893358	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12105766	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12619195	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12993791	0.81[EUR][1000 genomes]
rs12999865	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13001052	0.80[EUR][1000 genomes]
rs17164	0.84[EUR][1000 genomes]
rs1973675	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2344611	0.83[EUR][1000 genomes]
rs2344613	0.84[EUR][1000 genomes]
rs2592104	0.86[EUR][1000 genomes]
rs2675972	0.81[EUR][1000 genomes]
rs283470	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs283487	0.88[EUR][1000 genomes]
rs35491427	0.81[EUR][1000 genomes]
rs62193269	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62193271	0.82[EUR][1000 genomes]
rs6704763	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6710294	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6716488	0.84[EUR][1000 genomes]
rs6717048	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6733495	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6739794	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs737027	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs974321	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:233606200-233638400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:233606800-233636800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:233611600-233645600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:233612000-233640000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:233612000-233644600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr2:233612200-233638400	Strong transcription	Placenta	Placenta
9	chr2:233612600-233637200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:233613800-233635600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:233614000-233636800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:233614600-233643600	Weak transcription	Small Intestine	intestine
13	chr2:233617000-233636600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:233618600-233635600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:233620200-233640000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:233621400-233644400	Strong transcription	Liver	Liver
17	chr2:233622400-233635600	Weak transcription	Esophagus	oesophagus
18	chr2:233623600-233636800	Strong transcription	Fetal Intestine Large	intestine
19	chr2:233624400-233640000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:233624800-233640000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:233625000-233636200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:233625200-233637600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:233626000-233636200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:233626200-233636000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:233626200-233637600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr2:233627400-233636200	Strong transcription	Primary T cells from cord blood	blood
27	chr2:233627800-233645000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:233628600-233644200	Weak transcription	Ovary	ovary
29	chr2:233628600-233655400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:233629200-233635600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:233629200-233655800	Weak transcription	Colonic Mucosa	Colon
32	chr2:233629400-233635600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:233629400-233635600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:233629400-233635600	Weak transcription	Fetal Stomach	stomach
35	chr2:233629400-233635600	Weak transcription	Lung	lung
36	chr2:233629400-233635600	Weak transcription	Thymus	Thymus
37	chr2:233629400-233636800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:233629400-233639400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:233629400-233642000	Weak transcription	Gastric	stomach
40	chr2:233629400-233644200	Weak transcription	Right Ventricle	heart
41	chr2:233629400-233649600	Weak transcription	Spleen	Spleen
42	chr2:233629400-233652600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:233629400-233655200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr2:233629400-233655400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:233629600-233636800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr2:233629800-233636600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:233630800-233641000	Weak transcription	Fetal Kidney	kidney
48	chr2:233630800-233641200	Weak transcription	Brain Anterior Caudate	brain
49	chr2:233631000-233637400	Weak transcription	Brain Angular Gyrus	brain
50	chr2:233631200-233635600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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