Variant report

Variant	rs7819622
Chromosome Location	chr8:61823125-61823126
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	SMC3	chr8:61823084-61823376	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:61821780-61823258	GM12892	blood:	n/a	n/a
3	POLR2A	chr8:61821768-61823231	GM12892	blood:	n/a	n/a
4	STAT1	chr8:61823095-61823263	GM12878	blood:	n/a	n/a
5	BHLHE40	chr8:61821969-61823247	GM12878	blood:	n/a	chr8:61822963-61822979
6	MTA3	chr8:61822841-61823471	GM12878	blood:	n/a	n/a
7	SIN3A	chr8:61822136-61823163	H1-hESC	embryonic stem cell:	n/a	chr8:61823138-61823151
8	POLR2A	chr8:61821229-61823401	GM19099	blood:	n/a	n/a
9	MTA3	chr8:61821108-61823501	GM12878	blood:	n/a	n/a
10	MAX	chr8:61822868-61823255	MCF-7	breast:	n/a	n/a
11	MAX	chr8:61821969-61823362	GM12878	blood:	n/a	n/a
12	MAX	chr8:61821362-61823159	NB4	blood:	n/a	n/a
13	POLR2A	chr8:61821252-61823354	GM18526	blood:	n/a	n/a
14	FOS	chr8:61822810-61823324	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr8:61821355-61823142	GM12892	blood:	n/a	n/a
16	POLR2A	chr8:61820812-61826736	GM12878	blood:	n/a	n/a
17	WRNIP1	chr8:61822936-61823429	GM12878	blood:	n/a	n/a
18	BCLAF1	chr8:61821250-61823386	GM12878	blood:	n/a	chr8:61822458-61822471 chr8:61822860-61822873 chr8:61822627-61822640
19	FOXM1	chr8:61821814-61823271	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:61821153-61823143	GM19193	blood:	n/a	n/a
21	POLR2A	chr8:61821190-61823452	GM12891	blood:	n/a	n/a
22	TBL1XR1	chr8:61821231-61823323	GM12878	blood:	n/a	n/a
23	NFIC	chr8:61821149-61823508	GM12878	blood:	n/a	chr8:61821884-61821912
24	PML	chr8:61820983-61823483	GM12878	blood:	n/a	n/a
25	CEBPB	chr8:61822814-61823320	MCF-7	breast:	n/a	n/a
26	RUNX3	chr8:61821155-61823486	GM12878	blood:	n/a	n/a
27	CEBPB	chr8:61822979-61823438	H1-hESC	embryonic stem cell:	n/a	n/a
28	STAT5A	chr8:61822379-61823422	GM12878	blood:	n/a	chr8:61822558-61822570
29	POLR2A	chr8:61822335-61823199	HL-60	blood:	n/a	n/a
30	POLR2A	chr8:61821020-61826441	GM12878	blood:	n/a	n/a
31	RUNX3	chr8:61821252-61823470	GM12878	blood:	n/a	n/a
32	POLR2A	chr8:61821297-61823148	HUVEC	blood vessel:	n/a	n/a
33	ZBTB7A	chr8:61822078-61823130	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr8:61821131-61826508	GM18505	blood:	n/a	n/a
35	CEBPB	chr8:61823019-61823185	K562	blood:	n/a	n/a
36	ZNF384	chr8:61823118-61823393	GM12878	blood:	n/a	n/a
37	CEBPB	chr8:61822868-61823245	MCF-7	breast:	n/a	n/a
38	POLR2A	chr8:61821333-61823443	GM12878	blood:	n/a	n/a
39	MAX	chr8:61822327-61823190	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr8:61821264-61825382	GM12891	blood:	n/a	n/a
41	POLR2A	chr8:61822190-61823145	GM12878	blood:	n/a	n/a
42	POLR2A	chr8:61821133-61823463	GM12891	blood:	n/a	n/a
43	POLR2A	chr8:61820956-61825737	GM12878	blood:	n/a	n/a
44	POLR2A	chr8:61822859-61823412	GM12891	blood:	n/a	n/a
45	CEBPB	chr8:61822847-61823280	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr8:61821988-61823145	GM15510	blood:	n/a	n/a
47	POLR2A	chr8:61821978-61823184	GM18951	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254777	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10504321	0.93[ASN][1000 genomes]
rs12680914	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12680923	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12682244	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16926576	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16926582	0.94[ASN][1000 genomes]
rs4123861	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4609230	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55792263	0.95[ASN][1000 genomes]
rs55832112	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57065489	0.96[ASN][1000 genomes]
rs58187777	0.94[ASN][1000 genomes]
rs58610284	0.94[ASN][1000 genomes]
rs59503990	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61356857	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61525594	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72652548	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72652549	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72652550	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	esv3327831	chr8:61821423-61824171	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61820800-61825400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr8:61821000-61823200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:61821000-61823200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:61821000-61823400	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr8:61821000-61823400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr8:61821000-61826400	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr8:61821200-61823200	Enhancers	Spleen	Spleen
8	chr8:61821200-61823400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:61821200-61823400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr8:61821200-61823800	Active TSS	Rectal Smooth Muscle	rectum
11	chr8:61821400-61823200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr8:61821400-61823200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr8:61821400-61823200	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr8:61821400-61823400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr8:61821400-61823400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr8:61821400-61823400	Active TSS	Fetal Brain Female	brain
17	chr8:61821400-61823400	Flanking Active TSS	HUVEC	blood vessel
18	chr8:61821400-61826400	Enhancers	Placenta	Placenta
19	chr8:61821600-61823200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:61821600-61823200	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr8:61821600-61823400	Flanking Active TSS	HSMM	muscle
22	chr8:61821800-61823200	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr8:61821800-61823200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
24	chr8:61821800-61823400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:61822000-61823200	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr8:61822000-61823200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:61822000-61823200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
28	chr8:61822000-61823200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:61822000-61823200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:61822000-61823200	Active TSS	Brain Angular Gyrus	brain
31	chr8:61822000-61823200	Active TSS	Small Intestine	intestine
32	chr8:61822200-61823200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr8:61822200-61823200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:61822200-61823200	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr8:61822200-61823200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:61822200-61823200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:61822200-61823200	Flanking Active TSS	Colonic Mucosa	Colon
38	chr8:61822200-61823200	Active TSS	Fetal Intestine Small	intestine
39	chr8:61822200-61823200	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr8:61822200-61823200	Weak transcription	Hela-S3	cervix
41	chr8:61822200-61823200	Flanking Bivalent TSS/Enh	HMEC	breast
42	chr8:61822200-61823400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr8:61822200-61823400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:61822400-61823200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:61822400-61823200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:61822400-61823200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
47	chr8:61822400-61823400	Flanking Active TSS	GM12878-XiMat	blood
48	chr8:61822400-61823800	Weak transcription	HepG2	liver
49	chr8:61822400-61824400	Weak transcription	Dnd41	blood
50	chr8:61822600-61823200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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