Variant report

Variant	rs58602971
Chromosome Location	chr7:99530345-99530346
allele	C/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	POLR2A	chr7:99525940-99530576	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:99529246..99532089-chr7:99534553..99536799,3	K562	blood:
2	chr7:99529954..99531802-chr7:99535244..99537947,2	MCF-7	breast:
3	chr7:99528952..99531320-chr7:99615014..99616984,2	K562	blood:

Variant related genes	Relation type
ENSG00000199711	TF binding region
GJC3	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs17161888	1.00[AMR][1000 genomes]
rs57028043	1.00[AMR][1000 genomes]
rs57128906	1.00[AMR][1000 genomes]
rs57263854	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57403878	1.00[AMR][1000 genomes]
rs58604532	1.00[AMR][1000 genomes]
rs58730747	1.00[AMR][1000 genomes]
rs59053341	1.00[AMR][1000 genomes]
rs59687495	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59900957	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60305755	1.00[AMR][1000 genomes]
rs60684015	1.00[AMR][1000 genomes]
rs60692359	1.00[AMR][1000 genomes]
rs61628190	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61648592	1.00[AMR][1000 genomes]
rs61687460	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61742750	1.00[AMR][1000 genomes]
rs73393662	1.00[AMR][1000 genomes]
rs73395957	1.00[AMR][1000 genomes]
rs73403599	1.00[AMR][1000 genomes]
rs73405419	1.00[AMR][1000 genomes]
rs73405431	1.00[AMR][1000 genomes]
rs73405465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405474	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405480	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405481	1.00[AMR][1000 genomes]
rs73409503	1.00[AMR][1000 genomes]
rs73409509	1.00[AMR][1000 genomes]
rs73409513	1.00[AMR][1000 genomes]
rs73409528	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409529	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409546	1.00[AMR][1000 genomes]
rs73409549	1.00[AMR][1000 genomes]
rs73409550	1.00[AMR][1000 genomes]
rs73409552	1.00[AMR][1000 genomes]
rs73411424	1.00[AMR][1000 genomes]
rs73411425	1.00[AMR][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	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv607930	chr7:99525241-99602191	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv1828362	chr7:99530233-99628773	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99527600-99532200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:99527600-99532400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:99527800-99531600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:99527800-99532200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:99528000-99533000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:99528000-99535600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:99528200-99531800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:99528200-99531800	Weak transcription	HepG2	liver
9	chr7:99528200-99532600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:99528400-99532400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:99529400-99532200	Weak transcription	K562	blood

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