Variant report

Variant	rs2808012
Chromosome Location	chr1:220426526-220426527
allele	A/C
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	POLR2A	chr1:220426495-220427138	GM12892	blood:	n/a	n/a
2	POLR2A	chr1:220425773-220427310	GM12892	blood:	n/a	n/a
3	POLR2A	chr1:220426506-220427001	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:220426340-220426568	K562	blood:	n/a	n/a
5	POLR2A	chr1:220425886-220428269	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:220426490-220427243	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220415502..220418514-chr1:220424873..220426907,3	K562	blood:

Variant related genes	Relation type
MORF4L1P1	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10863538	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118507	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12026681	0.88[EUR][1000 genomes]
rs1397958	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1588578	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2221833	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667967	0.92[EUR][1000 genomes]
rs2667968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667969	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667970	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2808008	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2808009	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2808011	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2808013	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2808016	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2808018	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2808019	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2814492	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2814494	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2814495	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4142940	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4511114	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6541127	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696985	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7535619	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][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	nsv4643	chr1:220397642-220442231	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220393000-220441000	Weak transcription	NHDF-Ad	bronchial
2	chr1:220416000-220442600	Weak transcription	Fetal Heart	heart
3	chr1:220418200-220431400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:220420000-220427000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:220420400-220426600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:220420400-220426800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr1:220420400-220426800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr1:220420400-220427000	ZNF genes & repeats	GM12878-XiMat	blood
9	chr1:220420600-220427400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
10	chr1:220421000-220436800	Weak transcription	Fetal Kidney	kidney
11	chr1:220422000-220427000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:220422200-220426800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:220422200-220426800	ZNF genes & repeats	Dnd41	blood
14	chr1:220422600-220426600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:220422600-220426800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
16	chr1:220423000-220443400	Weak transcription	Psoas Muscle	Psoas
17	chr1:220423200-220428200	Weak transcription	Stomach Mucosa	stomach
18	chr1:220423400-220426800	Strong transcription	Osteobl	bone
19	chr1:220423400-220427400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:220423400-220443400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:220423400-220443400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:220423600-220426600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:220423600-220426600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:220423600-220427000	Strong transcription	Brain Hippocampus Middle	brain
25	chr1:220423600-220427200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:220423600-220427200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:220423600-220427200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:220423600-220428600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:220423600-220429000	Weak transcription	Brain Angular Gyrus	brain
30	chr1:220423600-220440400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:220423800-220426800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:220423800-220426800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:220423800-220426800	Strong transcription	HSMM	muscle
34	chr1:220423800-220427400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:220423800-220427600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:220423800-220427800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:220423800-220430000	Weak transcription	Fetal Brain Male	brain
38	chr1:220423800-220442600	Weak transcription	Hela-S3	cervix
39	chr1:220424200-220426800	Strong transcription	Fetal Intestine Large	intestine
40	chr1:220424400-220427000	Strong transcription	Fetal Lung	lung
41	chr1:220424400-220439600	Weak transcription	HMEC	breast
42	chr1:220424800-220427000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:220424800-220427000	Strong transcription	Fetal Brain Female	brain
44	chr1:220425000-220426600	Strong transcription	A549	lung
45	chr1:220425000-220426600	Strong transcription	NHLF	lung
46	chr1:220425000-220426800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:220425000-220426800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr1:220425000-220426800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr1:220425000-220426800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:220425000-220426800	Strong transcription	Adipose Nuclei	Adipose

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