Variant report

Variant	rs56335263
Chromosome Location	chr2:152148131-152148132
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152146753..152148649-chr2:152552733..152554484,2	MCF-7	breast:
2	chr2:152147623..152151846-chr2:152155576..152159756,4	K562	blood:
3	chr2:152145011..152148288-chr2:152265460..152267609,4	MCF-7	breast:
4	chr2:152144813..152149803-chr2:152261382..152268379,11	K562	blood:
5	chr2:152117595..152119182-chr2:152147828..152150131,2	K562	blood:

Variant related genes	Relation type
ENSG00000080345	Chromatin interaction
ENSG00000184898	Chromatin interaction

Extended variants
information (count: 133 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10165186	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10165284	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10184314	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10201139	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10203366	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10207408	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10209942	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10210155	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1023635	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1048135	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11678123	0.90[ASN][1000 genomes]
rs11678951	0.86[ASN][1000 genomes]
rs11680338	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11683487	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11691055	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11691217	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11692626	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11730	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12467046	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12471191	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12476687	0.89[ASN][1000 genomes]
rs12624156	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693004	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987765	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12996459	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12998170	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12999396	0.87[EUR][1000 genomes]
rs13001328	0.90[ASN][1000 genomes]
rs13004590	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13007728	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13015862	0.88[ASN][1000 genomes]
rs13018429	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13020443	0.87[EUR][1000 genomes]
rs13020769	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13020962	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13025888	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13027425	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13030194	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13412131	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13420739	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17798290	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2113508	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2194492	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2218880	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2271811	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2278090	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28416443	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2880488	0.84[ASN][1000 genomes]
rs289904	0.84[EUR][1000 genomes]
rs289905	0.84[EUR][1000 genomes]
rs289906	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs289907	0.84[EUR][1000 genomes]
rs289921	0.83[EUR][1000 genomes]
rs289923	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34028108	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34092307	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34385951	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34408744	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34433746	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34452578	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34538548	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34548459	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34639984	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35371567	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35473321	0.81[EUR][1000 genomes]
rs35613168	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35659175	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35680784	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35723696	0.90[ASN][1000 genomes]
rs35791982	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35863408	0.90[ASN][1000 genomes]
rs3771882	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3845843	0.83[EUR][1000 genomes]
rs3854012	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3856557	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4664318	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4664319	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4664320	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4664322	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4664336	0.90[ASN][1000 genomes]
rs4664347	0.90[ASN][1000 genomes]
rs4664349	0.90[ASN][1000 genomes]
rs4665114	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4665137	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4665150	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4665163	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4665167	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4665168	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4665169	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4665170	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55775354	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56376752	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57201382	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59247111	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60956116	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6433325	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6433327	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66521733	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66588921	0.90[ASN][1000 genomes]
rs6705180	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6707889	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6708382	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6713041	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6713190	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67181317	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6723298	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6726634	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67303849	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6739517	0.92[ASN][1000 genomes]
rs6752471	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6752617	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67693192	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67725431	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67868855	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71350100	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71415129	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73004003	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7349449	0.87[EUR][1000 genomes]
rs7558169	0.90[ASN][1000 genomes]
rs7559296	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7574228	0.90[ASN][1000 genomes]
rs7587037	0.88[ASN][1000 genomes]
rs9287955	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9287956	0.94[AMR][1000 genomes];0.97[EUR][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
rs56335263	NMI	Cis_1M	lymphoblastoid	RTeQTL
rs56335263	TNFAIP6	cis	Whole Blood	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152146800-152153800	Weak transcription	Lung	lung
2	chr2:152147000-152148200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:152147200-152149200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:152147200-152149400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:152147200-152149400	Enhancers	K562	blood
6	chr2:152147200-152150400	Weak transcription	Osteobl	bone
7	chr2:152147400-152148200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:152147400-152148400	Weak transcription	Adipose Nuclei	Adipose
9	chr2:152147400-152148400	Weak transcription	Hela-S3	cervix
10	chr2:152147400-152149200	Weak transcription	Colonic Mucosa	Colon
11	chr2:152147400-152149600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr2:152147600-152148200	Enhancers	Dnd41	blood
13	chr2:152147600-152148600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:152147600-152148800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:152147800-152148200	Weak transcription	Liver	Liver
16	chr2:152147800-152154200	Weak transcription	Primary B cells from cord blood	blood

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