Variant report

Variant	rs4819314
Chromosome Location	chr21:45199738-45199739
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	EP300	chr21:45199657-45199866	GM12878	blood:	n/a	n/a
2	BHLHE40	chr21:45199698-45199876	GM12878	blood:	n/a	n/a
3	ELF1	chr21:45199681-45199874	GM12878	blood:	n/a	n/a
4	TCF3	chr21:45199574-45199903	GM12878	blood:	n/a	chr21:45199745-45199759 chr21:45199747-45199756
5	SRF	chr21:45199496-45199845	HepG2	liver:	n/a	chr21:45199675-45199693
6	ZEB1	chr21:45199597-45199852	GM12878	blood:	n/a	chr21:45199748-45199757
7	SRF	chr21:45199592-45199761	GM12878	blood:	n/a	chr21:45199675-45199693
8	RCOR1	chr21:45199707-45199965	GM12878	blood:	n/a	n/a
9	EP300	chr21:45199639-45199953	GM12878	blood:	n/a	n/a
10	SRF	chr21:45199555-45199752	GM12878	blood:	n/a	chr21:45199675-45199693
11	MXI1	chr21:45199685-45199883	GM12878	blood:	n/a	n/a
12	IKZF1	chr21:45199569-45199817	GM12878	blood:	n/a	n/a
13	POLR2A	chr21:45199625-45199933	HL-60	blood:	n/a	n/a
14	HEY1	chr21:45199585-45199903	HepG2	liver:	n/a	n/a
15	TCF3	chr21:45199628-45199871	GM12878	blood:	n/a	chr21:45199745-45199759 chr21:45199747-45199756
16	TCF12	chr21:45199615-45199903	GM12878	blood:	n/a	n/a
17	POLR2A	chr21:45199568-45200055	HL-60	blood:	n/a	n/a
18	SRF	chr21:45199554-45199831	HepG2	liver:	n/a	chr21:45199675-45199693
19	ZNF384	chr21:45199711-45199970	GM12878	blood:	n/a	n/a
20	SRF	chr21:45199597-45199744	GM12878	blood:	n/a	chr21:45199675-45199693
21	TCF12	chr21:45199576-45200024	GM12878	blood:	n/a	n/a
22	CEBPB	chr21:45199709-45199764	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45137876..45142347-chr21:45194759..45200624,9	MCF-7	breast:
2	chr21:45138069..45142004-chr21:45192681..45200004,8	MCF-7	breast:
3	chr21:45132246..45134583-chr21:45199684..45202380,3	MCF-7	breast:
4	chr21:45166127..45168190-chr21:45198985..45201869,2	K562	blood:

Variant related genes	Relation type
CSTB	TF binding region
TMEM97P1	TF binding region
ENSG00000160209	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11089097	0.82[ASN][1000 genomes]
rs11909278	0.82[ASN][1000 genomes]
rs1537118	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[ASN][1000 genomes]
rs1537120	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[ASN][1000 genomes]
rs17004612	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs2070538	0.94[ASN][1000 genomes]
rs2838364	0.95[ASN][1000 genomes]
rs2838373	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2838376	0.81[CHB][hapmap]
rs2838379	0.81[CHB][hapmap]
rs2838380	0.84[CHB][hapmap];0.81[CHD][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]
rs2838385	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2838391	0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2838400	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs2838405	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs28759507	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.98[ASN][1000 genomes]
rs4566449	0.81[CHB][hapmap];0.81[MEX][hapmap]
rs55663506	0.82[ASN][1000 genomes]
rs55825369	0.82[ASN][1000 genomes]
rs55982230	0.82[ASN][1000 genomes]
rs56387943	0.81[ASN][1000 genomes]
rs60418573	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62230077	0.80[ASN][1000 genomes]
rs6369	0.87[EUR][1000 genomes]
rs6518321	0.96[ASN][1000 genomes]
rs67676705	0.96[ASN][1000 genomes]
rs8128323	0.95[ASN][1000 genomes]
rs915770	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[ASN][1000 genomes]
rs9976535	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9979356	0.81[MEX][hapmap]
rs9980220	0.97[ASN][1000 genomes]
rs9984420	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv1055154	chr21:45148076-45203162	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS 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	121 gene(s)	inside rSNPs	diseases
13	nsv520305	chr21:45175958-45246326	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv913883	chr21:45191139-45252838	Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv913884	chr21:45191139-45255836	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv544469	chr21:45194085-45257959	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4819314	CSTB	cis	lymphoblastoid	seeQTL
rs4819314	CSTB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45196800-45199800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr21:45196800-45200600	Weak transcription	NHEK	skin
3	chr21:45196800-45201000	Weak transcription	Fetal Intestine Large	intestine
4	chr21:45196800-45202000	Weak transcription	Liver	Liver
5	chr21:45196800-45203000	Weak transcription	Lung	lung
6	chr21:45196800-45206400	Weak transcription	Gastric	stomach
7	chr21:45196800-45206400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr21:45196800-45208800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr21:45196800-45209000	Weak transcription	Aorta	Aorta
10	chr21:45197000-45200000	Enhancers	Dnd41	blood
11	chr21:45197000-45200800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr21:45197400-45200000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr21:45197600-45200000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr21:45197800-45199800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:45198000-45199800	Enhancers	Fetal Thymus	thymus
16	chr21:45198000-45200000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr21:45198200-45200800	Enhancers	GM12878-XiMat	blood
18	chr21:45198400-45200000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:45198800-45200800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr21:45198800-45206400	Weak transcription	Spleen	Spleen
21	chr21:45198800-45206600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr21:45199000-45200400	Weak transcription	Placenta	Placenta
23	chr21:45199000-45200600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr21:45199000-45201000	Weak transcription	Fetal Intestine Small	intestine
25	chr21:45199000-45202000	Weak transcription	Hela-S3	cervix
26	chr21:45199000-45202600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr21:45199000-45202800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr21:45199000-45202800	Weak transcription	A549	lung
29	chr21:45199000-45203000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr21:45199000-45203000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr21:45199000-45203000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr21:45199000-45206400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr21:45199000-45208600	Weak transcription	Stomach Mucosa	stomach
34	chr21:45199000-45208800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr21:45199200-45200800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr21:45199200-45202200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr21:45199200-45202400	Weak transcription	HMEC	breast
38	chr21:45199200-45202800	Enhancers	HepG2	liver
39	chr21:45199200-45204200	Weak transcription	K562	blood
40	chr21:45199200-45208400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr21:45199200-45208600	Weak transcription	Primary T cells from cord blood	blood
42	chr21:45199400-45200400	Weak transcription	Colonic Mucosa	Colon
43	chr21:45199400-45201000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr21:45199400-45202200	Weak transcription	Adipose Nuclei	Adipose
45	chr21:45199400-45202400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr21:45199400-45202800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr21:45199400-45208600	Weak transcription	Primary B cells from cord blood	blood
48	chr21:45199600-45199800	Flanking Active TSS	Esophagus	oesophagus
49	chr21:45199600-45199800	Enhancers	Right Ventricle	heart

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