Variant report

Variant	rs73733507
Chromosome Location	chr7:139525310-139525311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr7:139525214-139526579	SK-N-SH	brain:	n/a	chr7:139525906-139525917 chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:139517568..139521373-chr7:139521587..139526613,5	K562	blood:
2	chr7:139524710..139527393-chr7:139527540..139530071,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLEC2L-2	chr7:139523530-139525908	l_3489_NR_024451

Variant related genes	Relation type
TBXAS1	TF binding region
ENSG00000059377	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10487662	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17178226	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17178522	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17178543	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56317504	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953224	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7785246	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801524	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8192805	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv464733	chr7:139491967-139539218	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv608473	chr7:139491967-139539218	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr7:139517200-139529200	Weak transcription	Right Atrium	heart
2	chr7:139519200-139528200	Weak transcription	Gastric	stomach
3	chr7:139520600-139525600	Weak transcription	HMEC	breast
4	chr7:139523200-139526400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:139523400-139526200	Enhancers	Fetal Stomach	stomach
6	chr7:139523400-139526400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:139523800-139526200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:139524200-139525400	Weak transcription	HSMMtube	muscle
9	chr7:139524200-139525800	Enhancers	Fetal Kidney	kidney
10	chr7:139524600-139526400	Enhancers	Fetal Lung	lung
11	chr7:139524800-139526200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:139525000-139525400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr7:139525000-139526200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:139525000-139526200	Enhancers	NHLF	lung
15	chr7:139525200-139525400	Enhancers	Placenta	Placenta
16	chr7:139525200-139525600	Enhancers	Ovary	ovary
17	chr7:139525200-139526000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:139525200-139526200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr7:139525200-139526200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:139525200-139526200	Enhancers	Osteobl	bone

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