Variant report

Variant	rs12693004
Chromosome Location	chr2:152148718-152148719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:152148713-152148891	K562	blood:	n/a	n/a
2	ARID3A	chr2:152148677-152149024	K562	blood:	n/a	n/a
3	CEBPB	chr2:152148653-152149456	K562	blood:	n/a	chr2:152149260-152149277 chr2:152149261-152149274 chr2:152149261-152149272 chr2:152149261-152149274 chr2:152149106-152149117 chr2:152149262-152149273
4	GATA1	chr2:152148275-152149287	PBDE	blood:	n/a	n/a
5	NR2F2	chr2:152148659-152149058	K562	blood:	n/a	n/a
6	JUND	chr2:152148708-152148908	K562	blood:	n/a	n/a
7	CEBPB	chr2:152148641-152148860	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:152147623..152151846-chr2:152155576..152159756,4	K562	blood:
2	chr2:152144813..152149803-chr2:152261382..152268379,11	K562	blood:
3	chr2:152117595..152119182-chr2:152147828..152150131,2	K562	blood:

Variant related genes	Relation type
NMI	TF binding region
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	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10165284	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10184314	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10201139	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10203366	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10207408	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10209942	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10210155	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1023635	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1048135	0.85[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	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11683487	0.85[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	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11692626	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11730	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12467046	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12471191	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12476687	0.89[ASN][1000 genomes]
rs12624156	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987765	0.81[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	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12999396	0.87[EUR][1000 genomes]
rs13001328	0.90[ASN][1000 genomes]
rs13004590	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13007728	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13015862	0.88[ASN][1000 genomes]
rs13018429	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13020443	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13020769	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13020962	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13025888	0.91[ASN][1000 genomes]
rs13027425	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13030194	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13412131	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13420739	0.93[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	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2218880	0.92[ASN][1000 genomes]
rs2271811	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2278090	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28416443	0.93[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	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs289907	0.84[EUR][1000 genomes]
rs289921	0.83[EUR][1000 genomes]
rs289923	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34028108	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34092307	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34385951	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34408744	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34433746	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34452578	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34538548	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34548459	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34639984	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35371567	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35473321	0.81[EUR][1000 genomes]
rs35613168	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35659175	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35680784	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35723696	0.90[ASN][1000 genomes]
rs35791982	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35863408	0.90[ASN][1000 genomes]
rs3771882	0.81[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	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4664319	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4664320	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4664322	0.88[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	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4665137	0.81[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	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4665167	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4665168	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4665169	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4665170	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55775354	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56335263	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60956116	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6433325	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6433327	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66521733	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66588921	0.90[ASN][1000 genomes]
rs6705180	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6707889	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6708382	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6713041	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6713190	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67181317	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6723298	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6726634	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67303849	0.91[ASN][1000 genomes]
rs6739517	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6752471	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6752617	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67693192	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67725431	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67868855	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71350100	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71415129	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73004003	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7349449	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7558169	0.90[ASN][1000 genomes]
rs7559296	0.92[ASN][1000 genomes]
rs7574228	0.90[ASN][1000 genomes]
rs7587037	0.88[ASN][1000 genomes]
rs9287955	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9287956	0.80[AFR][1000 genomes];0.95[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
rs12693004	TNFAIP6	cis	Whole Blood	GTEx
rs12693004	NMI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

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

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