Variant report

Variant	rs71415129
Chromosome Location	chr2:152152798-152152799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152144705..152147509-chr2:152152105..152154406,3	MCF-7	breast:
2	chr2:152151929..152153728-chr2:152266086..152267793,2	MCF-7	breast:
3	chr2:152144796..152146879-chr2:152152335..152156277,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123609	Chromatin interaction
ENSG00000080345	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10165186	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10165284	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10184314	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10201139	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10203366	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10207408	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10209942	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10210155	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1023635	0.81[EUR][1000 genomes]
rs11692626	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12624156	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12693004	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12998170	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12999396	0.83[EUR][1000 genomes]
rs13007728	0.88[EUR][1000 genomes]
rs13018429	0.83[EUR][1000 genomes]
rs13020443	0.83[EUR][1000 genomes]
rs13020769	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13030194	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13412131	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13420739	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2194492	0.92[EUR][1000 genomes]
rs2278090	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28416443	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34028108	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34092307	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34385951	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34408744	0.83[EUR][1000 genomes]
rs34433746	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34538548	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34548459	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34639984	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35371567	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35473321	0.81[EUR][1000 genomes]
rs35613168	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35659175	0.81[EUR][1000 genomes]
rs35680784	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35791982	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4664318	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4664319	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4664320	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4665163	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4665167	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4665168	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4665169	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4665170	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56335263	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59247111	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60956116	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6433325	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6433327	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66521733	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6705180	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6707889	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6708382	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6713041	0.87[EUR][1000 genomes]
rs6713190	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67181317	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6723298	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6726634	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6752471	0.88[EUR][1000 genomes]
rs6752617	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67693192	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67725431	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67868855	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71350100	0.81[EUR][1000 genomes]
rs73004003	0.81[EUR][1000 genomes]
rs7349449	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9287955	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9287956	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv834417	chr2:151980473-152154950	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
9	esv1793984	chr2:152138749-152154163	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs71415129	RBM43	cis	Whole Blood	GTEx
rs71415129	TNFAIP6	cis	Whole Blood	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152146800-152153800	Weak transcription	Lung	lung
2	chr2:152147800-152154200	Weak transcription	Primary B cells from cord blood	blood
3	chr2:152149400-152158800	Weak transcription	K562	blood
4	chr2:152149600-152153800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:152152600-152158600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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