Variant report

Variant	rs13421886
Chromosome Location	chr2:231442980-231442981
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	RUNX3	chr2:231442748-231443281	GM12878	blood:	n/a	n/a
2	SPI1	chr2:231442816-231443282	GM12878	blood:	n/a	chr2:231443168-231443177 chr2:231443028-231443037
3	NFIC	chr2:231442654-231443515	GM12878	blood:	n/a	n/a
4	SPI1	chr2:231442796-231443271	GM12891	blood:	n/a	chr2:231443168-231443177 chr2:231443028-231443037
5	STAT5A	chr2:231442909-231443265	GM12878	blood:	n/a	chr2:231443034-231443042 chr2:231443171-231443183
6	SPI1	chr2:231442931-231443258	GM12878	blood:	n/a	chr2:231443168-231443177 chr2:231443028-231443037
7	NFIC	chr2:231442824-231443298	GM12878	blood:	n/a	n/a
8	FOXM1	chr2:231442846-231443342	GM12878	blood:	n/a	n/a
9	EP300	chr2:231442910-231443184	GM12878	blood:	n/a	chr2:231443168-231443182
10	MTA3	chr2:231442750-231443326	GM12878	blood:	n/a	n/a
11	BATF	chr2:231442925-231443233	GM12878	blood:	n/a	n/a
12	SMC3	chr2:231442908-231443363	GM12878	blood:	n/a	n/a
13	RUNX3	chr2:231442670-231443316	GM12878	blood:	n/a	n/a
14	IRF4	chr2:231442846-231443308	GM12878	blood:	n/a	n/a
15	ATF2	chr2:231442846-231443279	GM12878	blood:	n/a	n/a
16	BCLAF1	chr2:231442812-231443426	GM12878	blood:	n/a	chr2:231443028-231443037 chr2:231443168-231443177
17	NFATC1	chr2:231442826-231443502	GM12878	blood:	n/a	n/a
18	SPI1	chr2:231442813-231443343	GM12891	blood:	n/a	chr2:231443168-231443177 chr2:231443028-231443037
19	NFATC1	chr2:231442781-231443652	GM12878	blood:	n/a	n/a
20	BHLHE40	chr2:231442912-231443163	GM12878	blood:	n/a	n/a
21	ETS1	chr2:231442837-231443198	GM12878	blood:	n/a	chr2:231443168-231443179 chr2:231443028-231443039 chr2:231443172-231443179 chr2:231443166-231443180 chr2:231443028-231443041 chr2:231443168-231443183 chr2:231443168-231443181
22	IKZF1	chr2:231442828-231443297	GM12878	blood:	n/a	n/a
23	SPI1	chr2:231442746-231443425	GM12878	blood:	n/a	chr2:231443168-231443177 chr2:231443028-231443037
24	BATF	chr2:231442929-231443221	GM12878	blood:	n/a	n/a
25	CEBPB	chr2:231442781-231443370	GM12878	blood:	n/a	n/a
26	BCL11A	chr2:231442887-231443253	GM12878	blood:	n/a	chr2:231443028-231443037 chr2:231443168-231443177
27	ATF2	chr2:231442774-231443381	GM12878	blood:	n/a	n/a
28	PML	chr2:231442724-231443580	GM12878	blood:	n/a	n/a
29	MEF2A	chr2:231442857-231443213	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
TPM3P8	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10167031	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10186690	0.88[EUR][1000 genomes]
rs10210144	0.88[EUR][1000 genomes]
rs10498252	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10933342	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10933343	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10933346	0.84[EUR][1000 genomes]
rs10933347	0.84[EUR][1000 genomes]
rs12694873	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13004600	0.86[EUR][1000 genomes]
rs13004787	0.86[EUR][1000 genomes]
rs13005078	0.86[EUR][1000 genomes]
rs13005545	0.86[EUR][1000 genomes]
rs13005614	0.86[EUR][1000 genomes]
rs13031749	0.86[EUR][1000 genomes]
rs13035149	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13035936	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13394762	0.82[EUR][1000 genomes]
rs13418228	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13421941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13431400	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2241535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28376656	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34319068	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34748336	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34920030	0.84[EUR][1000 genomes]
rs35031342	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36110793	0.84[EUR][1000 genomes]
rs6436950	0.86[EUR][1000 genomes]
rs6734189	0.87[EUR][1000 genomes]
rs6747374	0.87[EUR][1000 genomes]
rs6755247	0.83[EUR][1000 genomes]
rs6760905	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73106842	0.84[EUR][1000 genomes]
rs73992464	0.84[EUR][1000 genomes]
rs7561667	0.88[EUR][1000 genomes]
rs7572719	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv875953	chr2:231415189-231457819	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv875955	chr2:231440555-231500805	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763113	chr2:231441828-231445303	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231439800-231443800	Enhancers	Primary T cells fromperipheralblood	blood
2	chr2:231440200-231443400	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr2:231440600-231443400	Enhancers	Primary T cells from cord blood	blood
4	chr2:231440800-231443000	Weak transcription	GM12878-XiMat	blood
5	chr2:231440800-231443400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr2:231441000-231447200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:231441800-231443400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr2:231442000-231443000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:231442000-231443600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:231442200-231443200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:231442600-231445000	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:231442800-231443400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr2:231442800-231443400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:231442800-231444000	Enhancers	Primary B cells from cord blood	blood
15	chr2:231442800-231444200	Enhancers	Primary monocytes fromperipheralblood	blood

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