Variant report

Variant	rs4403324
Chromosome Location	chr7:5108628-5108629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:5108079-5108827	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:5108076-5108633	U87	brain:	n/a	n/a
3	POLR2A	chr7:5108076-5108630	U87	brain:	n/a	n/a
4	GTF2F1	chr7:5108289-5108704	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr7:5107991-5108642	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr7:5108047-5108753	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr7:5107870-5108728	HepG2	liver:	n/a	n/a
8	POLR2A	chr7:5108202-5108662	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr7:5108423-5108706	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:5107966-5108791	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr7:5108605-5108673	H1-hESC	embryonic stem cell:	n/a	n/a
12	SETDB1	chr7:5102809-5108925	K562	blood:	n/a	n/a
13	POLR2A	chr7:5108256-5108903	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr7:5107623-5108837	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:5106650-5108984	K562	blood:	n/a	n/a
16	SETDB1	chr7:5107828-5108646	U2OS	brain:	n/a	n/a
17	GTF2F1	chr7:5107784-5108773	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5083932..5085520-chr7:5107784..5110775,2	K562	blood:
2	chr7:5090099..5092936-chr7:5106138..5109112,2	K562	blood:
3	chr7:5102498..5105723-chr7:5107748..5111413,3	K562	blood:
4	chr7:5105932..5109296-chr7:5110401..5113563,4	K562	blood:

No data

Variant related genes	Relation type
RBAKDN	TF binding region
ENSG00000146587	Chromatin interaction
ENSG00000273313	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10085591	0.86[AMR][1000 genomes]
rs10215776	0.86[AMR][1000 genomes]
rs10226147	0.85[AMR][1000 genomes]
rs10229468	0.85[AMR][1000 genomes]
rs10238244	1.00[CEU][hapmap];0.83[JPT][hapmap];0.93[EUR][1000 genomes]
rs10240940	0.82[AMR][1000 genomes]
rs10245090	0.84[AMR][1000 genomes]
rs10272726	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.97[LWK][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10275581	0.84[AMR][1000 genomes]
rs10951759	0.85[AMR][1000 genomes]
rs10951760	0.85[AMR][1000 genomes]
rs10951761	0.85[AMR][1000 genomes]
rs1127434	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11971044	0.85[AMR][1000 genomes]
rs11971647	0.81[AMR][1000 genomes]
rs12234314	0.80[ASN][1000 genomes]
rs12334144	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12668514	0.85[AMR][1000 genomes]
rs12670409	0.86[AMR][1000 genomes]
rs12672515	0.85[AMR][1000 genomes]
rs13239077	0.84[ASN][1000 genomes]
rs13240149	0.82[AMR][1000 genomes]
rs28449930	0.85[AMR][1000 genomes]
rs28564852	0.83[ASN][1000 genomes]
rs35013001	0.83[AMR][1000 genomes]
rs35021679	0.94[ASN][1000 genomes]
rs35876367	0.83[AMR][1000 genomes]
rs35995564	0.82[ASN][1000 genomes]
rs36039016	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4268029	0.85[AMR][1000 genomes]
rs4338005	0.82[ASN][1000 genomes]
rs4363098	0.84[AMR][1000 genomes]
rs4364532	0.83[AMR][1000 genomes]
rs4380823	0.85[AMR][1000 genomes]
rs4419727	0.82[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes]
rs4431493	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4523153	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4538789	0.84[AMR][1000 genomes]
rs4585633	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4590348	0.85[ASN][1000 genomes]
rs4720472	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56274918	0.84[AMR][1000 genomes]
rs61116960	0.86[AMR][1000 genomes]
rs61296609	0.86[AMR][1000 genomes]
rs62444320	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6463220	0.86[AMR][1000 genomes]
rs6463228	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6463238	1.00[CEU][hapmap]
rs6463244	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6942686	0.82[AMR][1000 genomes]
rs6944850	0.83[ASN][1000 genomes]
rs6958077	0.83[ASN][1000 genomes]
rs6958550	0.86[GIH][hapmap]
rs6960279	0.86[AMR][1000 genomes]
rs6960304	0.86[AMR][1000 genomes]
rs6971154	0.86[AMR][1000 genomes]
rs6973878	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977895	0.83[AMR][1000 genomes]
rs7457066	0.81[ASN][1000 genomes]
rs7778009	0.84[AMR][1000 genomes]
rs7778444	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779828	0.87[AMR][1000 genomes]
rs7780676	0.84[AMR][1000 genomes]
rs7780922	0.85[ASN][1000 genomes]
rs7781429	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7782190	0.85[AMR][1000 genomes]
rs7786822	0.85[AMR][1000 genomes]
rs7787140	0.85[AMR][1000 genomes]
rs7787737	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7788954	0.85[CEU][hapmap];0.84[AMR][1000 genomes]
rs7793124	0.82[AMR][1000 genomes]
rs7794361	0.84[AMR][1000 genomes]
rs7794683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800799	0.86[AMR][1000 genomes]
rs7802223	0.87[AMR][1000 genomes]
rs7808531	0.82[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs9769483	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9886313	0.86[AMR][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	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
8	nsv1019120	chr7:4929653-5138409	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv917078	chr7:4962123-5151633	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1029430	chr7:5053887-5223583	Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv1034446	chr7:5066181-5108770	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv1025644	chr7:5066181-5114089	Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv1032880	chr7:5066181-5205932	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv1030384	chr7:5066181-5210555	Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
16	nsv538709	chr7:5101766-5152727	Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
17	nsv1031007	chr7:5101766-5262695	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4403324	RBAK	cis	multi-tissue	Pritchard

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5086800-5109200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:5088200-5111400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:5088400-5108800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr7:5088400-5109600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr7:5089200-5108800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr7:5089200-5110400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr7:5089400-5110200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:5089600-5110400	ZNF genes & repeats	Liver	Liver
9	chr7:5091000-5110200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:5095200-5111600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
11	chr7:5095400-5110200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr7:5097200-5108800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:5097400-5108800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:5098800-5110000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr7:5098800-5110400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:5100200-5108800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr7:5103000-5108800	ZNF genes & repeats	A549	lung
18	chr7:5104400-5109400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:5104800-5109400	Weak transcription	Fetal Stomach	stomach
20	chr7:5104800-5109600	Weak transcription	Pancreas	Pancrea
21	chr7:5105400-5111400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:5106600-5109000	Weak transcription	Placenta	Placenta
23	chr7:5106800-5111800	Weak transcription	HepG2	liver
24	chr7:5107000-5111400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:5107000-5111400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:5107200-5111600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
27	chr7:5108400-5109600	Weak transcription	Ovary	ovary
28	chr7:5108600-5110200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:5108600-5117400	Weak transcription	Dnd41	blood

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