Variant report

Variant	rs2644145
Chromosome Location	chr1:227733890-227733891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227729455..227731523-chr1:227733555..227735249,2	K562	blood:
2	chr1:227724940..227726791-chr1:227731403..227734272,2	K562	blood:
3	chr1:227732140..227734388-chr1:227916123..227918168,2	MCF-7	breast:
4	chr1:227733749..227736446-chr1:227749685..227751475,2	K562	blood:
5	chr1:227729010..227735281-chr1:227748522..227752811,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202264	Chromatin interaction
ENSG00000181450	Chromatin interaction
ENSG00000143740	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12058250	0.81[EUR][1000 genomes]
rs16848042	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2644144	0.82[ASN][1000 genomes]
rs2644146	0.82[ASN][1000 genomes]
rs2814059	0.81[ASN][1000 genomes]
rs2814060	0.81[ASN][1000 genomes]
rs2814084	0.81[ASN][1000 genomes]
rs2819498	0.81[ASN][1000 genomes]
rs6671682	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66779436	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72632831	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7413796	0.82[ASN][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	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv873244	chr1:227682414-227736363	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv873247	chr1:227697381-227736363	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv873248	chr1:227710381-227786033	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv947520	chr1:227724042-227750192	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv947560	chr1:227726600-227750192	ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227730400-227735000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:227730600-227734400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:227730800-227734000	Weak transcription	Spleen	Spleen
4	chr1:227730800-227736000	Enhancers	Fetal Muscle Trunk	muscle
5	chr1:227730800-227736000	Enhancers	Fetal Muscle Leg	muscle
6	chr1:227730800-227736000	Enhancers	Pancreas	Pancrea
7	chr1:227731000-227734600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:227731000-227734600	Weak transcription	HepG2	liver
9	chr1:227731000-227735400	Weak transcription	Colonic Mucosa	Colon
10	chr1:227731000-227748400	Weak transcription	Right Atrium	heart
11	chr1:227731200-227735200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:227731200-227735800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:227731200-227739000	Weak transcription	Fetal Intestine Small	intestine
14	chr1:227731600-227736400	Weak transcription	Gastric	stomach
15	chr1:227732600-227734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:227733600-227734200	Enhancers	Fetal Lung	lung
17	chr1:227733800-227734000	Enhancers	Ovary	ovary
18	chr1:227733800-227734000	Enhancers	Psoas Muscle	Psoas
19	chr1:227733800-227734000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
20	chr1:227733800-227734800	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links