Variant report

Variant	rs72810397
Chromosome Location	chr2:47589039-47589040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr2:47588615-47589049	K562	blood:	n/a	n/a
2	CEBPB	chr2:47589017-47589283	K562	blood:	n/a	n/a
3	CBX3	chr2:47588682-47589056	K562	blood:	n/a	n/a
4	NR2F2	chr2:47588578-47589093	K562	blood:	n/a	n/a
5	CEBPB	chr2:47588699-47589157	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47586945..47591052-chr2:47593988..47597569,4	K562	blood:
2	chr2:47587435..47591464-chr2:47593988..47597001,4	K562	blood:
3	chr2:47402103..47403966-chr2:47586998..47589266,2	K562	blood:
4	chr2:47587881..47592394-chr2:47594664..47598225,6	MCF-7	breast:
5	chr2:47588711..47590901-chr2:47594534..47597934,4	MCF-7	breast:
6	chr2:47569761..47572467-chr2:47587479..47590349,2	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SKP119	TF binding region
ENSG00000143933	Chromatin interaction
ENSG00000234690	Chromatin interaction
ENSG00000119888	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17036537	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17036544	0.88[ASN][1000 genomes]
rs35079997	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3923560	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4399765	0.87[ASN][1000 genomes]
rs4952884	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4952886	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4953495	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4953497	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4953498	0.89[EUR][1000 genomes]
rs55931899	0.87[ASN][1000 genomes]
rs56368712	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60417954	0.90[ASN][1000 genomes]
rs61348463	0.85[ASN][1000 genomes]
rs61493074	0.85[ASN][1000 genomes]
rs62138459	0.98[ASN][1000 genomes]
rs66617176	0.84[ASN][1000 genomes]
rs72808419	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72808422	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72812303	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72812306	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72812307	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7558107	0.82[AMR][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv524003	chr2:47543245-47590034	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv581756	chr2:47552706-47590930	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1009586	chr2:47552706-47621487	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47578200-47589600	Enhancers	Fetal Intestine Small	intestine
2	chr2:47580200-47589600	Enhancers	Fetal Intestine Large	intestine
3	chr2:47587000-47590000	Enhancers	K562	blood
4	chr2:47587000-47595600	Weak transcription	Colonic Mucosa	Colon
5	chr2:47588400-47589600	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:47588600-47595600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:47588600-47595800	Weak transcription	HMEC	breast
8	chr2:47588800-47589600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr2:47588800-47589600	Enhancers	HepG2	liver
10	chr2:47589000-47589400	Enhancers	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links