Variant report

Variant	rs73120255
Chromosome Location	chr7:38513395-38513396
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38512209..38514500-chr7:38517121..38519244,2	K562	blood:
2	chr7:38510679..38513709-chr7:38513758..38517048,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10229905	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10232299	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10238666	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10245053	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10249698	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10250342	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10255786	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10259475	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10264958	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10266944	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10267691	0.89[ASN][1000 genomes]
rs10277878	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10280220	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11486852	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2014872	0.89[ASN][1000 genomes]
rs2267811	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2284248	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28412720	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3823595	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4419725	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4723756	0.93[ASN][1000 genomes]
rs57983498	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv932229	chr7:38248340-38727527	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	nsv830965	chr7:38350614-38521047	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv830966	chr7:38393663-38602553	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv8079	chr7:38510794-38513768	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv9559	chr7:38512811-38513558	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3475971	chr7:38512896-38513428	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3516932	chr7:38512907-38513437	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3516930	chr7:38512913-38513453	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3475973	chr7:38512943-38513413	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3516933	chr7:38512952-38513397	Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv5062	chr7:38512957-38513433	Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38499800-38523600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:38501000-38522400	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:38501800-38522600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:38502600-38549400	Weak transcription	Fetal Stomach	stomach
5	chr7:38502800-38533800	Weak transcription	Aorta	Aorta
6	chr7:38503800-38522400	Weak transcription	Fetal Lung	lung
7	chr7:38504000-38513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:38504200-38514600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:38512200-38516400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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