Variant report

Variant	rs1815973
Chromosome Location	chr7:126316657-126316658
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	7:126312146-126318123..7:127233104-127239235	H1-hESC	embryonic stem cell:	embryo
2	7:126312146-126318123..7:127009457-127018926	GM12878	blood:
3	7:126312146-126318123..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo
4	7:126312146-126318123..7:127225864-127233104	GM12878	blood:
5	chr7:126314710..126317465-chr7:126320415..126322546,2	K562	blood:
6	7:126085913-126088095..7:126312146-126318123	GM12878	blood:
7	7:126312146-126318123..7:127031401-127034711	GM12878	blood:
8	7:126312146-126318123..7:127221502-127225864	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000106328	Chromatin interaction
ENSG00000179603	Chromatin interaction
ENSG00000179562	Chromatin interaction
ENSG00000004059	Chromatin interaction
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1008905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10229382	0.85[AFR][1000 genomes]
rs10244102	0.80[YRI][hapmap]
rs1024417	0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs1024418	0.92[ASN][1000 genomes]
rs10244659	0.85[AFR][1000 genomes]
rs10247812	0.86[LWK][hapmap];0.80[YRI][hapmap]
rs10253111	0.80[YRI][hapmap]
rs10254454	0.85[AFR][1000 genomes]
rs10258741	0.82[AFR][1000 genomes]
rs10272830	0.80[YRI][hapmap];0.82[AFR][1000 genomes]
rs10273625	0.86[LWK][hapmap];0.80[YRI][hapmap]
rs10279616	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10480488	0.87[LWK][hapmap]
rs11760596	0.92[CHB][hapmap];0.83[CHD][hapmap]
rs12538632	0.92[CHB][hapmap]
rs12667118	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12706739	0.82[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap]
rs13234319	0.90[CHB][hapmap]
rs13241983	0.82[CEU][hapmap];0.92[CHB][hapmap]
rs13243112	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1419482	0.82[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap]
rs1419483	0.90[CHB][hapmap]
rs1579214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073863	0.84[CHB][hapmap]
rs2237761	0.83[CHD][hapmap]
rs2237764	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237765	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2283068	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2283069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2283073	0.81[JPT][hapmap]
rs2299460	0.92[CHB][hapmap];0.83[CHD][hapmap]
rs2299492	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2299493	0.83[CHD][hapmap]
rs2299497	0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2299498	0.86[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2402820	0.83[CHD][hapmap]
rs28654948	0.82[AFR][1000 genomes]
rs2896374	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34261190	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35009695	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808152	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3808153	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3824011	0.86[ASN][1000 genomes]
rs4728051	0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs4731317	0.92[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap]
rs4731321	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6960925	0.92[CHB][hapmap]
rs727904	0.80[YRI][hapmap]
rs7803165	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv889187	chr7:126219766-126478190	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1032108	chr7:126278349-126362592	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv5939	chr7:126279355-126322778	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links