Variant report

Variant	rs1404267
Chromosome Location	chr7:120820484-120820485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120819870..120822812-chr7:120840045..120842182,2	K562	blood:
2	chr7:120805499..120808232-chr7:120819576..120821319,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1024743	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11979342	0.93[EUR][1000 genomes]
rs11981613	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs11983939	0.95[EUR][1000 genomes]
rs12706322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13228215	0.82[EUR][1000 genomes]
rs13229354	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13229558	0.82[EUR][1000 genomes]
rs13233295	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes]
rs13235373	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs13238393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1357757	0.82[EUR][1000 genomes]
rs17143194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17283542	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2160013	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs2402561	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2968344	0.81[EUR][1000 genomes]
rs34143330	0.99[EUR][1000 genomes]
rs34269514	0.93[EUR][1000 genomes]
rs34362455	0.93[EUR][1000 genomes]
rs34385410	0.93[EUR][1000 genomes]
rs34638154	0.93[EUR][1000 genomes]
rs35370706	0.92[EUR][1000 genomes]
rs35411566	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4144090	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4593468	0.96[EUR][1000 genomes]
rs66520565	0.82[EUR][1000 genomes]
rs6976513	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs73433997	0.95[EUR][1000 genomes]
rs73436037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759157	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs7790569	0.82[EUR][1000 genomes]
rs798932	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs798938	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs798939	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs798940	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs798942	0.81[EUR][1000 genomes]
rs798944	0.88[EUR][1000 genomes]
rs798945	0.82[EUR][1000 genomes]
rs798947	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs798948	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
13	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120782800-120822400	Weak transcription	HSMMtube	muscle
2	chr7:120783200-120822400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:120789800-120822400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:120789800-120828800	Weak transcription	Left Ventricle	heart
5	chr7:120798600-120836000	Weak transcription	Adipose Nuclei	Adipose
6	chr7:120804600-120822400	Weak transcription	NHDF-Ad	bronchial
7	chr7:120804600-120825800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:120817000-120825200	Enhancers	Primary B cells from peripheral blood	blood
9	chr7:120819000-120822600	Weak transcription	Aorta	Aorta
10	chr7:120819200-120822600	Weak transcription	HSMM	muscle
11	chr7:120819200-120861000	Strong transcription	K562	blood
12	chr7:120819400-120820600	Enhancers	GM12878-XiMat	blood
13	chr7:120819400-120822400	Weak transcription	Ovary	ovary
14	chr7:120819400-120822400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:120819400-120831600	Weak transcription	Psoas Muscle	Psoas
16	chr7:120819800-120822600	Weak transcription	NHLF	lung
17	chr7:120820200-120821000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr7:120820400-120820800	Enhancers	Primary B cells from cord blood	blood

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