Variant report

Variant	rs181820
Chromosome Location	chr5:40817174-40817175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40812798..40819830-chr5:40821906..40830676,11	MCF-7	breast:
2	chr5:40816237..40819777-chr5:40833085..40836718,5	MCF-7	breast:
3	chr5:40755386..40757497-chr5:40815665..40817353,2	K562	blood:
4	chr5:40796112..40799022-chr5:40816719..40818510,2	MCF-7	breast:
5	chr5:40816639..40819938-chr5:40825309..40828911,4	MCF-7	breast:
6	chr5:40815974..40818536-chr5:40833401..40836504,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132356	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000113638	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1070445	0.81[ASN][1000 genomes]
rs1097592	0.81[ASN][1000 genomes]
rs1097604	0.81[ASN][1000 genomes]
rs1103634	0.89[ASN][1000 genomes]
rs152374	0.81[ASN][1000 genomes]
rs152376	0.88[ASN][1000 genomes]
rs154269	0.81[ASN][1000 genomes]
rs154270	0.88[ASN][1000 genomes]
rs154271	0.88[ASN][1000 genomes]
rs154272	1.00[ASN][1000 genomes]
rs154273	0.88[ASN][1000 genomes]
rs154274	0.81[ASN][1000 genomes]
rs154276	0.81[ASN][1000 genomes]
rs154277	0.81[ASN][1000 genomes]
rs154278	0.81[ASN][1000 genomes]
rs154282	0.81[ASN][1000 genomes]
rs154283	0.81[ASN][1000 genomes]
rs1631661	0.88[ASN][1000 genomes]
rs1645509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs166282	1.00[ASN][1000 genomes]
rs1697929	0.81[ASN][1000 genomes]
rs1697937	0.81[ASN][1000 genomes]
rs173618	0.88[ASN][1000 genomes]
rs173619	1.00[ASN][1000 genomes]
rs181819	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs181821	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs183138	0.88[ASN][1000 genomes]
rs184436	0.81[ASN][1000 genomes]
rs185114	0.81[ASN][1000 genomes]
rs185115	0.81[ASN][1000 genomes]
rs185381	0.81[ASN][1000 genomes]
rs192962	0.81[ASN][1000 genomes]
rs2262009	0.81[ASN][1000 genomes]
rs249421	0.81[ASN][1000 genomes]
rs249424	0.81[ASN][1000 genomes]
rs249426	0.81[ASN][1000 genomes]
rs249427	0.81[ASN][1000 genomes]
rs249431	0.81[ASN][1000 genomes]
rs249432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs249433	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs249434	0.88[ASN][1000 genomes]
rs249435	0.88[ASN][1000 genomes]
rs249439	1.00[ASN][1000 genomes]
rs249443	0.88[ASN][1000 genomes]
rs249444	0.88[ASN][1000 genomes]
rs29737	0.81[ASN][1000 genomes]
rs29741	0.81[ASN][1000 genomes]
rs29762	0.88[ASN][1000 genomes]
rs29763	0.88[ASN][1000 genomes]
rs29764	0.88[ASN][1000 genomes]
rs323556	0.81[ASN][1000 genomes]
rs323560	0.81[ASN][1000 genomes]
rs323562	0.81[ASN][1000 genomes]
rs34236150	1.00[ASN][1000 genomes]
rs370346	1.00[ASN][1000 genomes]
rs380334	0.81[ASN][1000 genomes]
rs382916	0.81[ASN][1000 genomes]
rs396412	1.00[ASN][1000 genomes]
rs39794	0.88[ASN][1000 genomes]
rs418494	0.81[ASN][1000 genomes]
rs424787	1.00[ASN][1000 genomes]
rs42515	0.88[ASN][1000 genomes]
rs433730	0.81[ASN][1000 genomes]
rs438604	1.00[ASN][1000 genomes]
rs441016	1.00[ASN][1000 genomes]
rs445367	1.00[ASN][1000 genomes]
rs455374	1.00[ASN][1000 genomes]
rs455519	0.81[ASN][1000 genomes]
rs456929	0.81[ASN][1000 genomes]
rs456995	0.81[ASN][1000 genomes]
rs457111	1.00[ASN][1000 genomes]
rs458884	1.00[ASN][1000 genomes]
rs459491	1.00[ASN][1000 genomes]
rs459794	1.00[ASN][1000 genomes]
rs460752	1.00[ASN][1000 genomes]
rs461612	0.81[ASN][1000 genomes]
rs462430	0.87[ASN][1000 genomes]
rs463040	1.00[ASN][1000 genomes]
rs463675	1.00[ASN][1000 genomes]
rs463905	1.00[ASN][1000 genomes]
rs464045	1.00[ASN][1000 genomes]
rs464191	1.00[ASN][1000 genomes]
rs465196	0.87[ASN][1000 genomes]
rs465467	1.00[ASN][1000 genomes]
rs466960	0.88[ASN][1000 genomes]
rs467438	1.00[ASN][1000 genomes]
rs6495	1.00[AMR][1000 genomes]
rs6861744	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs704032	0.88[ASN][1000 genomes]
rs704033	0.88[ASN][1000 genomes]
rs7716239	1.00[AMR][1000 genomes]
rs837100	0.81[ASN][1000 genomes]
rs837105	0.81[ASN][1000 genomes]
rs837267	0.81[ASN][1000 genomes]
rs837279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs837378	0.81[ASN][1000 genomes]
rs837381	0.81[ASN][1000 genomes]
rs837382	0.81[ASN][1000 genomes]
rs837384	0.81[ASN][1000 genomes]
rs837385	0.81[ASN][1000 genomes]
rs837389	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
3	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40808400-40826600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:40808800-40825600	Weak transcription	HSMM	muscle
3	chr5:40813200-40823600	Weak transcription	K562	blood
4	chr5:40814000-40821600	Weak transcription	Thymus	Thymus
5	chr5:40814200-40826000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:40814200-40826000	Weak transcription	GM12878-XiMat	blood
7	chr5:40814200-40826400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:40814400-40825000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:40814400-40825200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:40814600-40827000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:40816600-40826600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:40816600-40826800	Weak transcription	Brain Angular Gyrus	brain

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