Variant report

Variant	rs73564216
Chromosome Location	chr19:45663837-45663838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:45663434-45665662	K562	blood:	n/a	n/a
2	POLR2A	chr19:45663593-45663965	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45662322..45663842-chr19:45681568..45683237,2	K562	blood:
2	chr19:45663246..45665913-chr19:45689234..45691618,2	MCF-7	breast:
3	chr19:45662322..45668242-chr19:45680645..45684470,7	K562	blood:
4	chr19:45663488..45666150-chr19:45752160..45753806,2	K562	blood:
5	chr19:45662769..45665493-chr19:45847031..45849570,2	MCF-7	breast:

No data

Variant related genes	Relation type
NKPD1	TF binding region
ENSG00000007255	Chromatin interaction
ENSG00000267545	Chromatin interaction
ENSG00000104892	Chromatin interaction
ENSG00000266958	Chromatin interaction
ENSG00000189114	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1048552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12459817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12460178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12461733	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12463298	0.83[AMR][1000 genomes]
rs12463327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57302271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57627123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58504789	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59215448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60460304	1.00[AMR][1000 genomes]
rs6509200	0.85[AFR][1000 genomes]
rs73564218	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833842	chr19:45593888-45684308	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS 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 miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv833843	chr19:45593888-45793682	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv912143	chr19:45624303-45767214	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv3403042	chr19:45626786-45874859	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv912144	chr19:45636319-45687446	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv522341	chr19:45640124-45664218	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv1795888	chr19:45650386-45681988	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv520051	chr19:45660136-45664218	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45657800-45668200	Weak transcription	Right Atrium	heart
2	chr19:45660200-45674000	Weak transcription	A549	lung
3	chr19:45661000-45664000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:45662000-45667000	Weak transcription	Spleen	Spleen
5	chr19:45662400-45667200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr19:45662600-45664400	Bivalent Enhancer	HepG2	liver
7	chr19:45662600-45666600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr19:45662600-45667600	Weak transcription	HUVEC	blood vessel
9	chr19:45662800-45664800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr19:45662800-45669000	Enhancers	Esophagus	oesophagus
11	chr19:45663000-45664000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:45663000-45665000	Bivalent Enhancer	Fetal Intestine Large	intestine
13	chr19:45663400-45665400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:45663400-45665400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr19:45663400-45665800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr19:45663600-45664600	Enhancers	Placenta	Placenta
17	chr19:45663600-45665400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:45663800-45664600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
19	chr19:45663800-45665000	Bivalent Enhancer	Fetal Intestine Small	intestine
20	chr19:45663800-45665000	Enhancers	Gastric	stomach
21	chr19:45663800-45665000	Enhancers	Pancreas	Pancrea
22	chr19:45663800-45665200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:45663800-45665600	Enhancers	NHEK	skin

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