Variant report

Variant	rs56030020
Chromosome Location	chr4:122715292-122715293
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:122713231..122718740-chr4:122718856..122724586,12	K562	blood:
2	chr4:122707344..122709734-chr4:122714569..122716206,2	MCF-7	breast:
3	chr4:122711885..122714299-chr4:122714317..122717336,4	K562	blood:

Variant related genes	Relation type
ENSG00000123737	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10470915	0.81[EUR][1000 genomes]
rs10471016	0.81[EUR][1000 genomes]
rs1051881	0.91[ASN][1000 genomes]
rs11930525	0.81[EUR][1000 genomes]
rs11937861	0.81[EUR][1000 genomes]
rs11947643	0.87[EUR][1000 genomes]
rs1574283	0.81[EUR][1000 genomes]
rs1803183	1.00[ASN][1000 genomes]
rs28515183	0.81[EUR][1000 genomes]
rs28676474	0.81[EUR][1000 genomes]
rs3217767	1.00[ASN][1000 genomes]
rs3903026	0.81[EUR][1000 genomes]
rs4077754	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4309856	0.81[EUR][1000 genomes]
rs4508913	0.81[EUR][1000 genomes]
rs4571354	0.81[EUR][1000 genomes]
rs55685419	1.00[ASN][1000 genomes]
rs55803709	1.00[ASN][1000 genomes]
rs55936221	1.00[ASN][1000 genomes]
rs56221685	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56300111	1.00[ASN][1000 genomes]
rs57779372	1.00[ASN][1000 genomes]
rs58745264	1.00[ASN][1000 genomes]
rs58921436	0.90[ASN][1000 genomes]
rs59268194	1.00[ASN][1000 genomes]
rs60240575	1.00[ASN][1000 genomes]
rs61180375	1.00[ASN][1000 genomes]
rs61434837	0.91[ASN][1000 genomes]
rs61665948	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534322	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6823340	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6825926	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6830453	1.00[ASN][1000 genomes]
rs6836544	1.00[ASN][1000 genomes]
rs6854295	1.00[ASN][1000 genomes]
rs6858061	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913994	0.81[EUR][1000 genomes]
rs72915905	0.87[EUR][1000 genomes]
rs73844293	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73844294	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73844297	1.00[ASN][1000 genomes]
rs73844298	1.00[ASN][1000 genomes]
rs73847203	1.00[ASN][1000 genomes]
rs73847204	1.00[ASN][1000 genomes]
rs73847205	0.91[ASN][1000 genomes]
rs73847206	1.00[ASN][1000 genomes]
rs7661218	0.85[EUR][1000 genomes]
rs7684547	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs769243	1.00[ASN][1000 genomes]
rs7694815	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122711000-122715800	Weak transcription	GM12878-XiMat	blood
2	chr4:122711800-122715400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:122711800-122715800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:122711800-122721800	Weak transcription	Fetal Stomach	stomach
5	chr4:122711800-122721800	Weak transcription	HMEC	breast
6	chr4:122712200-122720800	Weak transcription	Fetal Intestine Large	intestine
7	chr4:122712200-122721600	Weak transcription	A549	lung
8	chr4:122712400-122717000	Weak transcription	HUVEC	blood vessel
9	chr4:122712800-122716000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:122713000-122715400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:122713000-122715600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:122713000-122717000	Weak transcription	NHLF	lung
13	chr4:122713200-122715600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:122713200-122715600	Weak transcription	Thymus	Thymus
15	chr4:122713200-122716800	Weak transcription	NHDF-Ad	bronchial
16	chr4:122713200-122721000	Weak transcription	HSMMtube	muscle
17	chr4:122713400-122715600	Weak transcription	Fetal Thymus	thymus
18	chr4:122713400-122715800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:122713600-122715400	Weak transcription	Osteobl	bone
20	chr4:122713600-122715600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:122713600-122715600	Weak transcription	HSMM	muscle
22	chr4:122714200-122715600	Enhancers	K562	blood
23	chr4:122714600-122716800	Weak transcription	NHEK	skin
24	chr4:122714600-122717200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:122714600-122721800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:122715000-122715400	Enhancers	HepG2	liver
27	chr4:122715000-122716000	Enhancers	Dnd41	blood
28	chr4:122715200-122715400	Enhancers	Fetal Intestine Small	intestine
29	chr4:122715200-122716200	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links