Variant report

Variant	rs3093885
Chromosome Location	chr14:20812666-20812667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr14:20812614-20812684	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr14:20810402-20812735	H1-neurons	neurons:	n/a	chr14:20810852-20810872
3	EBF1	chr14:20812519-20812795	GM12878	blood:	n/a	chr14:20812723-20812734
4	TAL1	chr14:20812308-20812678	K562	blood:	n/a	n/a
5	EBF1	chr14:20812578-20812778	GM12878	blood:	n/a	chr14:20812723-20812734
6	HCFC1	chr14:20810384-20812691	Hela-S3	cervix:	n/a	n/a
7	EBF1	chr14:20812599-20812787	GM12878	blood:	n/a	chr14:20812723-20812734

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:20810776..20813078-chr14:21149132..21154522,5	MCF-7	breast:
2	chr14:20809897..20813381-chr14:20823524..20827429,6	MCF-7	breast:
3	chr14:20809943..20813054-chr14:20921915..20924936,4	MCF-7	breast:
4	chr14:20810118..20813648-chr14:20925784..20931556,9	MCF-7	breast:
5	chr14:20811638..20813233-chr14:20813576..20815950,2	MCF-7	breast:
6	chr14:20809730..20812813-chr14:21079988..21085543,7	MCF-7	breast:
7	chr14:20790753..20792292-chr14:20811267..20812896,2	MCF-7	breast:
8	chr14:20811145..20813095-chr14:20923393..20925186,2	K562	blood:
9	chr14:20810709..20813377-chr14:20857493..20860829,3	MCF-7	breast:
10	chr14:20810111..20813161-chr14:21149711..21152468,4	K562	blood:
11	chr14:20809894..20812869-chr7:150755610..150758204,2	MCF-7	breast:
12	chr14:20810041..20813384-chr14:20935508..20939122,8	MCF-7	breast:
13	chr14:20809095..20813799-chr14:21074403..21078570,5	MCF-7	breast:
14	chr14:20807684..20813516-chr14:20919958..20928823,14	K562	blood:
15	chr14:20810396..20814723-chr14:20817267..20820679,8	MCF-7	breast:
16	chr14:20810314..20812793-chr15:38855404..38857234,2	MCF-7	breast:
17	chr14:20810182..20812934-chr14:20937866..20940179,2	K562	blood:
18	chr14:20811759..20814135-chr14:20820161..20822518,2	MCF-7	breast:
19	chr14:20808270..20815666-chr14:20919802..20926735,19	MCF-7	breast:
20	chr14:20810407..20812907-chr14:21075998..21078180,2	K562	blood:
21	chr14:20810147..20812907-chr14:20836126..20842394,9	MCF-7	breast:
22	chr14:20809950..20813130-chr14:21150094..21153288,8	MCF-7	breast:
23	chr14:20809378..20813101-chr14:20879937..20884504,11	MCF-7	breast:
24	chr14:20809910..20813476-chr14:20877400..20881790,6	MCF-7	breast:
25	chr14:20810751..20813443-chr14:21076294..21078959,4	MCF-7	breast:
26	chr14:20809818..20812962-chr14:20928607..20931811,3	K562	blood:
27	chr14:20810223..20812919-chr14:20881907..20884862,2	K562	blood:
28	chr14:20809761..20813005-chr14:20927609..20931720,11	MCF-7	breast:

No data

Variant related genes	Relation type
RPPH1	TF binding region
ENSG00000259060	Chromatin interaction
ENSG00000164889	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000164885	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000259171	Chromatin interaction
ENSG00000258818	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000214274	Chromatin interaction
ENSG00000165782	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000173464	Chromatin interaction
ENSG00000222489	Chromatin interaction
ENSG00000254846	Chromatin interaction
ENSG00000200225	Chromatin interaction
ENSG00000172575	Chromatin interaction
ENSG00000129566	Chromatin interaction
ENSG00000239327	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3093866	1.00[AFR][1000 genomes]
rs3093905	0.82[YRI][hapmap];1.00[AFR][1000 genomes]
rs3093908	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1042025	chr14:20787961-20817851	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
8	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20809600-20813000	Active TSS	K562	blood
2	chr14:20809800-20812800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:20809800-20812800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr14:20810000-20812800	Active TSS	H1 Cell Line	embryonic stem cell
5	chr14:20810000-20812800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:20810000-20812800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:20810000-20812800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:20810000-20812800	Active TSS	HMEC	breast
9	chr14:20810000-20813000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:20810000-20813000	Active TSS	Brain Germinal Matrix	brain
11	chr14:20810200-20812800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:20810200-20812800	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr14:20810400-20812800	Active TSS	Stomach Smooth Muscle	stomach
14	chr14:20810400-20812800	Active TSS	HSMM	muscle
15	chr14:20811800-20812800	Active TSS	A549	lung
16	chr14:20812000-20813800	Weak transcription	Lung	lung
17	chr14:20812000-20820600	Weak transcription	Spleen	Spleen
18	chr14:20812000-20822600	Weak transcription	Gastric	stomach
19	chr14:20812200-20812800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:20812200-20812800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:20812200-20812800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:20812200-20812800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr14:20812200-20812800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:20812200-20812800	Flanking Active TSS	Fetal Brain Female	brain
25	chr14:20812200-20812800	Flanking Active TSS	Dnd41	blood
26	chr14:20812200-20813200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:20812200-20813200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:20812200-20813400	Weak transcription	Left Ventricle	heart
29	chr14:20812200-20813800	Weak transcription	Ovary	ovary
30	chr14:20812200-20815200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:20812200-20815200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:20812200-20815800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr14:20812200-20817800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr14:20812200-20822600	Weak transcription	Pancreas	Pancrea
35	chr14:20812200-20824000	Weak transcription	Aorta	Aorta
36	chr14:20812200-20825400	Weak transcription	Esophagus	oesophagus
37	chr14:20812400-20812800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:20812400-20812800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr14:20812400-20812800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:20812400-20812800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr14:20812400-20812800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:20812400-20812800	Flanking Active TSS	Hela-S3	cervix
43	chr14:20812400-20812800	Flanking Active TSS	NH-A	brain
44	chr14:20812400-20812800	Flanking Active TSS	NHEK	skin
45	chr14:20812400-20813200	Weak transcription	Fetal Intestine Large	intestine
46	chr14:20812400-20813400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:20812400-20815200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr14:20812400-20815200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr14:20812400-20815800	Weak transcription	Small Intestine	intestine
50	chr14:20812400-20816000	Weak transcription	Thymus	Thymus

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