Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr2:190448800-190449011	K562	blood:	n/a	n/a
2	CUX1	chr2:190448375-190449007	K562	blood:	n/a	n/a
3	SPI1	chr2:190448901-190449028	K562	blood:	n/a	n/a
4	ARID3A	chr2:190448094-190449306	K562	blood:	n/a	chr2:190449074-190449090
5	GATA1	chr2:190447913-190450728	PBDE	blood:	n/a	chr2:190449721-190449734 chr2:190449719-190449735

Variant related genes	Relation type
SLC40A1	TF binding region

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10177654	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10188680	0.96[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931426	0.85[LWK][hapmap];0.89[YRI][hapmap]
rs1123110	0.81[CEU][hapmap]
rs11694919	0.91[EUR][1000 genomes]
rs12465298	0.92[EUR][1000 genomes]
rs12619013	0.91[EUR][1000 genomes]
rs13012833	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs1347708	0.92[CEU][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs1370593	0.91[EUR][1000 genomes]
rs1437885	0.92[EUR][1000 genomes]
rs1439814	0.81[CEU][hapmap]
rs17198983	1.00[CEU][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes]
rs2352270	0.93[EUR][1000 genomes]
rs4666778	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6712505	0.94[EUR][1000 genomes]
rs6718734	0.91[EUR][1000 genomes]
rs6718798	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6733858	0.91[EUR][1000 genomes]
rs6741965	0.89[EUR][1000 genomes]
rs7590106	0.96[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 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	chr2:190446000-190449400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:190446800-190450200	Weak transcription	HUVEC	blood vessel
3	chr2:190446800-190450400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:190447000-190449600	Weak transcription	Stomach Mucosa	stomach
5	chr2:190447200-190449200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:190447400-190449200	Active TSS	K562	blood
7	chr2:190447400-190452200	Weak transcription	Primary T cells from cord blood	blood
8	chr2:190447600-190449400	Enhancers	Dnd41	blood
9	chr2:190448200-190450400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:190448400-190449800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:190448400-190457400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:190448600-190449400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:190448600-190449800	Enhancers	Fetal Intestine Small	intestine
14	chr2:190448600-190450400	Enhancers	Fetal Intestine Large	intestine
15	chr2:190448600-190450600	Enhancers	Liver	Liver
16	chr2:190448600-190450600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:190448600-190451400	Enhancers	Ovary	ovary

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