Variant report

Variant	rs7260320
Chromosome Location	chr19:55672784-55672785
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr19:55671894-55672869	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr19:55671853-55672895	H1-hESC	embryonic stem cell:	n/a	chr19:55672795-55672807
3	E2F6	chr19:55671759-55673691	H1-hESC	embryonic stem cell:	n/a	chr19:55672795-55672807 chr19:55673196-55673206
4	POLR2A	chr19:55671742-55672794	PFSK-1	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55627388..55629698-chr19:55672061..55673602,2	K562	blood:
2	chr19:55579852..55582710-chr19:55671936..55674879,2	K562	blood:
3	chr19:55669904..55673815-chr19:55917688..55921815,5	K562	blood:
4	chr19:55668909..55673851-chr19:55684249..55689420,6	K562	blood:
5	chr19:55670803..55672973-chr19:55678461..55680015,2	MCF-7	breast:
6	chr19:55672196..55674741-chr19:55676544..55679173,3	K562	blood:
7	chr19:55666494..55670422-chr19:55672733..55675574,3	K562	blood:
8	chr19:55670813..55674787-chr19:55917654..55919984,3	MCF-7	breast:

No data

Variant related genes	Relation type
TNNI3	TF binding region
ENSG00000267110	TF binding region
DNAAF3	TF binding region
ENSG00000125503	Chromatin interaction
ENSG00000129991	Chromatin interaction
ENSG00000267577	Chromatin interaction
ENSG00000167646	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000239137	Chromatin interaction
ENSG00000129990	Chromatin interaction
ENSG00000160439	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2365725	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3848617	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7249414	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7260371	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv534462	chr19:55028722-55683018	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv912451	chr19:55595687-55680746	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv912453	chr19:55672007-55690398	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55669000-55672800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
2	chr19:55669200-55672800	Enhancers	Fetal Heart	heart
3	chr19:55669600-55673400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr19:55670800-55673800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
5	chr19:55671000-55673000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:55671600-55672800	Bivalent Enhancer	Placenta	Placenta
7	chr19:55671600-55677600	Weak transcription	Right Atrium	heart
8	chr19:55671800-55677600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:55672000-55672800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr19:55672000-55672800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr19:55672000-55672800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:55672000-55673000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr19:55672000-55673400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr19:55672000-55673400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr19:55672000-55677200	Weak transcription	NHEK	skin
16	chr19:55672200-55673600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:55672200-55676800	Weak transcription	Hela-S3	cervix
18	chr19:55672400-55672800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr19:55672400-55672800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr19:55672400-55672800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr19:55672400-55672800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr19:55672400-55672800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr19:55672400-55672800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:55672400-55672800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:55672400-55673000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr19:55672400-55673000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:55672400-55673000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:55672400-55673200	Active TSS	H9 Cell Line	embryonic stem cell
29	chr19:55672400-55673200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:55672400-55673400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr19:55672400-55673400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:55672600-55672800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr19:55672600-55672800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
34	chr19:55672600-55672800	Enhancers	Right Ventricle	heart
35	chr19:55672600-55672800	Enhancers	K562	blood
36	chr19:55672600-55673000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:55672600-55673000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
38	chr19:55672600-55673400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:55672600-55673400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:55672600-55673600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:55672600-55677200	Weak transcription	Left Ventricle	heart
42	chr19:55672600-55677200	Weak transcription	Pancreas	Pancrea

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