Variant report

Variant	rs73992446
Chromosome Location	chr2:231443209-231443210
allele	C/T
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	MTA3	chr2:231442750-231443326	GM12878	blood:	n/a	n/a
10	BATF	chr2:231442925-231443233	GM12878	blood:	n/a	n/a
11	SMC3	chr2:231442908-231443363	GM12878	blood:	n/a	n/a
12	RUNX3	chr2:231442670-231443316	GM12878	blood:	n/a	n/a
13	IRF4	chr2:231442846-231443308	GM12878	blood:	n/a	n/a
14	ATF2	chr2:231442846-231443279	GM12878	blood:	n/a	n/a
15	BCLAF1	chr2:231442812-231443426	GM12878	blood:	n/a	chr2:231443028-231443037 chr2:231443168-231443177
16	NFATC1	chr2:231442826-231443502	GM12878	blood:	n/a	n/a
17	SPI1	chr2:231442813-231443343	GM12891	blood:	n/a	chr2:231443168-231443177 chr2:231443028-231443037
18	NFATC1	chr2:231442781-231443652	GM12878	blood:	n/a	n/a
19	IKZF1	chr2:231442828-231443297	GM12878	blood:	n/a	n/a
20	SPI1	chr2:231442746-231443425	GM12878	blood:	n/a	chr2:231443168-231443177 chr2:231443028-231443037
21	BATF	chr2:231442929-231443221	GM12878	blood:	n/a	n/a
22	CEBPB	chr2:231442781-231443370	GM12878	blood:	n/a	n/a
23	BCL11A	chr2:231442887-231443253	GM12878	blood:	n/a	chr2:231443028-231443037 chr2:231443168-231443177
24	ATF2	chr2:231442774-231443381	GM12878	blood:	n/a	n/a
25	PML	chr2:231442724-231443580	GM12878	blood:	n/a	n/a
26	TBL1XR1	chr2:231443000-231443256	GM12878	blood:	n/a	n/a
27	MEF2A	chr2:231442857-231443213	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
TPM3P8	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11674767	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676418	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11679760	0.85[ASN][1000 genomes]
rs11681649	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11682332	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11682484	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11686286	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11687550	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11689413	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11689558	0.84[ASN][1000 genomes]
rs11691070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692958	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11694266	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694317	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12612121	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2241534	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241536	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241537	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56199999	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56289241	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706054	0.82[ASN][1000 genomes]
rs6748830	0.91[ASN][1000 genomes]
rs73992447	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:17 , 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	chr2:231440800-231443400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr2:231441000-231447200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:231441800-231443400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr2:231442000-231443600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:231442600-231445000	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:231442800-231443400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr2:231442800-231443400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:231442800-231444000	Enhancers	Primary B cells from cord blood	blood
12	chr2:231442800-231444200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:231443000-231443400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr2:231443000-231443400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:231443200-231443400	Flanking Active TSS	GM12878-XiMat	blood
16	chr2:231443200-231443600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:231443200-231444000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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