Variant report

Variant	rs17054315
Chromosome Location	chr6:101333505-101333506
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	POLR2A	chr6:101333384-101333584	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:101325336..101331866-chr6:101332086..101337094,13	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIK2-5	chr6:101332648-101334181	NONHSAT114163

Variant related genes	Relation type
ASCC3	TF binding region
ENSG00000270987	TF binding region
ENSG00000112249	Chromatin interaction
ENSG00000260000	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10485294	0.94[AMR][1000 genomes]
rs10485295	0.94[AMR][1000 genomes]
rs10485297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12660993	0.83[AMR][1000 genomes]
rs12663536	0.94[AMR][1000 genomes]
rs12664207	0.83[AMR][1000 genomes]
rs12664223	0.83[AMR][1000 genomes]
rs12664278	0.83[AMR][1000 genomes]
rs12664368	0.83[AMR][1000 genomes]
rs12664920	0.83[AMR][1000 genomes]
rs12665824	0.83[AMR][1000 genomes]
rs1336246	0.83[AMR][1000 genomes]
rs17060978	0.83[AMR][1000 genomes]
rs17060985	0.83[AMR][1000 genomes]
rs17061014	0.83[AMR][1000 genomes]
rs17061023	0.83[AMR][1000 genomes]
rs17061060	0.83[AMR][1000 genomes]
rs17061113	0.94[AMR][1000 genomes]
rs17061152	1.00[AMR][1000 genomes]
rs17061158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17061168	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17061190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17061191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17061195	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17061206	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17061234	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17061235	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17061236	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17061242	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17061360	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17061363	0.82[ASN][1000 genomes]
rs17061371	0.81[ASN][1000 genomes]
rs2180339	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34783327	0.83[AMR][1000 genomes]
rs4427005	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs614094	0.90[ASN][1000 genomes]
rs648360	0.90[ASN][1000 genomes]
rs705619	0.88[ASN][1000 genomes]
rs73508859	0.92[ASN][1000 genomes]
rs73760737	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73760738	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs768985	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9485429	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9498435	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer 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	16 gene(s)	inside rSNPs	diseases
2	nsv1020692	chr6:101136992-101426071	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv1019213	chr6:101225650-101623140	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv538391	chr6:101225650-101623140	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers 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	8 gene(s)	inside rSNPs	diseases
8	esv2763587	chr6:101277874-101510491	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr6:101329800-101335000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:101329800-101340600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:101330200-101340000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:101330400-101339000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:101330600-101333800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:101330600-101334000	Weak transcription	NH-A	brain
7	chr6:101330600-101335000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:101330800-101339000	Weak transcription	K562	blood
9	chr6:101331600-101333600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:101331600-101339000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:101331600-101340000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:101331600-101340000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:101332800-101335400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:101333000-101333600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:101333000-101334200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:101333200-101334400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:101333400-101333600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr6:101333400-101335400	Enhancers	HUES48 Cell Line	embryonic stem cell

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