Variant report

Variant	rs4593468
Chromosome Location	chr7:120810142-120810143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120783598..120786251-chr7:120808569..120811529,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10228942	1.00[ASN][1000 genomes]
rs1024743	0.84[EUR][1000 genomes]
rs10248019	1.00[ASN][1000 genomes]
rs11979342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11983939	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13221538	0.89[ASN][1000 genomes]
rs13233295	0.95[EUR][1000 genomes]
rs13235373	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238167	1.00[ASN][1000 genomes]
rs1404267	0.96[EUR][1000 genomes]
rs17143194	0.96[EUR][1000 genomes]
rs17283542	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160013	0.84[EUR][1000 genomes]
rs2402561	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28562415	1.00[ASN][1000 genomes]
rs2908572	0.82[EUR][1000 genomes]
rs2908574	0.83[EUR][1000 genomes]
rs2968344	0.84[EUR][1000 genomes]
rs34143330	0.95[EUR][1000 genomes]
rs34269514	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34362455	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34385410	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34638154	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35370706	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35411566	0.96[EUR][1000 genomes]
rs35682088	1.00[ASN][1000 genomes]
rs4144090	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976513	0.85[EUR][1000 genomes]
rs73433974	1.00[ASN][1000 genomes]
rs73433997	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73436037	0.96[EUR][1000 genomes]
rs759157	0.85[EUR][1000 genomes]
rs7790569	0.85[EUR][1000 genomes]
rs798932	0.84[EUR][1000 genomes]
rs798938	0.84[EUR][1000 genomes]
rs798939	0.84[EUR][1000 genomes]
rs798940	0.89[EUR][1000 genomes]
rs798942	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs798944	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs798945	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs798947	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs798948	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs798950	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv428506	chr7:120719434-120891759	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv889121	chr7:120747228-120869464	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv427802	chr7:120749159-120935856	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 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	chr7:120782800-120822400	Weak transcription	HSMMtube	muscle
2	chr7:120783000-120817000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:120783200-120822400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:120789800-120822400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:120789800-120828800	Weak transcription	Left Ventricle	heart
6	chr7:120790200-120815200	Weak transcription	Ovary	ovary
7	chr7:120790600-120811800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:120792400-120818400	Weak transcription	Aorta	Aorta
9	chr7:120798600-120836000	Weak transcription	Adipose Nuclei	Adipose
10	chr7:120804600-120822400	Weak transcription	NHDF-Ad	bronchial
11	chr7:120804600-120825800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:120806400-120813600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:120807200-120817000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:120807600-120817000	Weak transcription	Primary B cells from cord blood	blood
15	chr7:120809600-120810400	Strong transcription	HSMM	muscle
16	chr7:120809600-120810400	Strong transcription	K562	blood
17	chr7:120809800-120810200	Enhancers	Liver	Liver
18	chr7:120810000-120810200	Weak transcription	NHLF	lung
19	chr7:120810000-120810400	Enhancers	Primary B cells from peripheral blood	blood
20	chr7:120810000-120810400	Enhancers	Psoas Muscle	Psoas

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