Variant report

Variant	rs7592539
Chromosome Location	chr2:189234525-189234526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:188707924..188708424-chr2:189233846..189234774,2	MCF-7	breast:
2	chr2:189156137..189157141-chr2:189233874..189234902,3	MCF-7	breast:
3	chr2:189028049..189028737-chr2:189234214..189234730,2	K562	blood:
4	chr2:189155560..189158939-chr2:189231780..189236991,6	MCF-7	breast:
5	chr2:189156802..189157479-chr2:189233856..189234710,2	MCF-7	breast:
6	chr2:189156150..189156735-chr2:189233795..189234763,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10168173	1.00[EUR][1000 genomes]
rs10497688	1.00[EUR][1000 genomes]
rs11678294	0.92[AFR][1000 genomes]
rs11683340	0.92[AFR][1000 genomes]
rs13393870	1.00[EUR][1000 genomes]
rs13394334	1.00[EUR][1000 genomes]
rs13430185	1.00[EUR][1000 genomes]
rs13430412	1.00[EUR][1000 genomes]
rs16829866	1.00[EUR][1000 genomes]
rs16829915	1.00[EUR][1000 genomes]
rs16829922	1.00[EUR][1000 genomes]
rs58715158	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58718952	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58765845	1.00[EUR][1000 genomes]
rs59058494	1.00[EUR][1000 genomes]
rs59329932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60885306	1.00[EUR][1000 genomes]
rs61163899	1.00[EUR][1000 genomes]
rs6705443	1.00[EUR][1000 genomes]
rs6709650	1.00[EUR][1000 genomes]
rs6716922	1.00[EUR][1000 genomes]
rs6721812	1.00[EUR][1000 genomes]
rs73036471	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036479	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036496	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73039680	1.00[EUR][1000 genomes]
rs73039697	1.00[EUR][1000 genomes]
rs73039700	1.00[EUR][1000 genomes]
rs73040411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040428	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040439	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040441	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040442	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040450	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040454	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73041610	1.00[EUR][1000 genomes]
rs73041636	1.00[EUR][1000 genomes]
rs73041644	1.00[EUR][1000 genomes]
rs73041648	1.00[EUR][1000 genomes]
rs73041649	1.00[EUR][1000 genomes]
rs7340152	1.00[EUR][1000 genomes]
rs7560857	1.00[EUR][1000 genomes]
rs7577096	1.00[EUR][1000 genomes]
rs7577467	1.00[EUR][1000 genomes]
rs7586703	1.00[EUR][1000 genomes]
rs7588114	1.00[EUR][1000 genomes]
rs7592433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7596417	1.00[EUR][1000 genomes]
rs7597930	1.00[EUR][1000 genomes]
rs7598380	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7599101	1.00[EUR][1000 genomes]
rs9653310	1.00[EUR][1000 genomes]

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	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv584053	chr2:189184422-189245515	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv999135	chr2:189184937-189265614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189199400-189247600	Weak transcription	Aorta	Aorta
2	chr2:189211000-189243400	Weak transcription	HUVEC	blood vessel
3	chr2:189217000-189234600	Weak transcription	Psoas Muscle	Psoas
4	chr2:189218800-189248800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:189224400-189247000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:189229200-189243000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:189229400-189242200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:189230800-189234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:189230800-189239200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:189230800-189248200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:189231000-189234600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:189232600-189234600	Weak transcription	Pancreas	Pancrea
13	chr2:189234000-189234600	Enhancers	A549	lung
14	chr2:189234000-189235000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:189234000-189237000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:189234400-189234800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:189234400-189235000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:189234400-189235000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:189234400-189235200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:189234400-189235600	Enhancers	Fetal Heart	heart
21	chr2:189234400-189236200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:189234400-189237000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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