Variant report

Variant	rs73844294
Chromosome Location	chr4:122707024-122707025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:122703955..122708206-chr4:122710788..122713882,5	K562	blood:
2	chr4:122616437..122619642-chr4:122706327..122710278,3	K562	blood:
3	chr4:122704373..122708206-chr4:122711994..122714423,4	K562	blood:

Variant related genes	Relation type
ENSG00000164111	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10001422	0.85[EUR][1000 genomes]
rs10011665	0.85[EUR][1000 genomes]
rs10470915	0.87[EUR][1000 genomes]
rs10471016	0.87[EUR][1000 genomes]
rs1051881	0.91[ASN][1000 genomes]
rs11930525	0.87[EUR][1000 genomes]
rs11937861	0.87[EUR][1000 genomes]
rs11947643	0.93[EUR][1000 genomes]
rs1574283	0.87[EUR][1000 genomes]
rs1803183	1.00[ASN][1000 genomes]
rs28515183	0.87[EUR][1000 genomes]
rs28676474	0.87[EUR][1000 genomes]
rs3217767	1.00[ASN][1000 genomes]
rs3903026	0.87[EUR][1000 genomes]
rs4077754	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4309856	0.87[EUR][1000 genomes]
rs4508913	0.87[EUR][1000 genomes]
rs4571354	0.87[EUR][1000 genomes]
rs55685419	1.00[ASN][1000 genomes]
rs55803709	1.00[ASN][1000 genomes]
rs55936221	1.00[ASN][1000 genomes]
rs56030020	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56221685	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56300111	1.00[ASN][1000 genomes]
rs57312551	0.83[EUR][1000 genomes]
rs57779372	1.00[ASN][1000 genomes]
rs58127039	0.85[EUR][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	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534322	0.91[EUR][1000 genomes]
rs6823340	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6825926	0.95[AMR][1000 genomes];0.94[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	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913994	0.87[EUR][1000 genomes]
rs72915905	0.93[EUR][1000 genomes]
rs73844293	0.93[AMR][1000 genomes];1.00[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	0.91[EUR][1000 genomes]
rs7684547	0.91[AMR][1000 genomes];0.98[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122705600-122707200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr4:122705600-122707200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:122705600-122707200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:122705600-122707400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:122705600-122707400	Enhancers	HMEC	breast
6	chr4:122705600-122707600	Enhancers	NHEK	skin
7	chr4:122705600-122708000	Enhancers	Fetal Heart	heart
8	chr4:122705600-122708200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:122706000-122707200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:122706000-122707400	Enhancers	Hela-S3	cervix
11	chr4:122706000-122707600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:122706000-122707600	Enhancers	NHLF	lung
13	chr4:122706200-122707200	Enhancers	Lung	lung
14	chr4:122706400-122707200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr4:122706400-122707200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:122706400-122707200	Enhancers	Adipose Nuclei	Adipose
17	chr4:122706400-122707200	Enhancers	Brain Anterior Caudate	brain
18	chr4:122706400-122707200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr4:122706400-122707200	Enhancers	Fetal Muscle Leg	muscle
20	chr4:122706400-122707200	Enhancers	Left Ventricle	heart
21	chr4:122706400-122707200	Flanking Active TSS	Osteobl	bone
22	chr4:122706400-122707400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:122706600-122707200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr4:122706800-122707200	Enhancers	NH-A	brain
25	chr4:122706800-122708200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:122706800-122708400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:122706800-122710400	Weak transcription	HUVEC	blood vessel
28	chr4:122706800-122713200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:122706800-122713200	Enhancers	NHDF-Ad	bronchial
30	chr4:122707000-122707200	Flanking Active TSS	HSMM	muscle
31	chr4:122707000-122707200	Flanking Active TSS	HSMMtube	muscle
32	chr4:122707000-122709200	Weak transcription	K562	blood
33	chr4:122707000-122710400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:122707000-122711400	Weak transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links