Variant report

Variant	rs73397687
Chromosome Location	chr12:105634229-105634230
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:105633983-105634283	GM12891	blood:	n/a	n/a
2	SPI1	chr12:105634061-105634317	K562	blood:	n/a	n/a
3	SPI1	chr12:105634005-105634346	GM12891	blood:	n/a	n/a
4	SPI1	chr12:105634112-105634264	GM12878	blood:	n/a	n/a
5	SPI1	chr12:105633983-105634456	HL-60	blood:	n/a	n/a
6	SPI1	chr12:105633915-105634490	GM12878	blood:	n/a	n/a
7	SPI1	chr12:105633935-105634484	HL-60	blood:	n/a	n/a
8	SPI1	chr12:105634037-105634287	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105632034..105634612-chr12:105649228..105651077,2	MCF-7	breast:
2	chr12:105628928..105631591-chr12:105632421..105636831,6	MCF-7	breast:
3	chr12:105628535..105631488-chr12:105632035..105634749,3	K562	blood:

No data

Variant related genes	Relation type
APPL2	TF binding region
ENSG00000136044	Chromatin interaction
ENSG00000235162	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1882148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57393988	1.00[EUR][1000 genomes]
rs57448746	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57456392	1.00[EUR][1000 genomes]
rs57618699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58301361	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58969183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59143432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59811168	1.00[EUR][1000 genomes]
rs59840770	1.00[EUR][1000 genomes]
rs59935781	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59955900	1.00[EUR][1000 genomes]
rs60167837	1.00[EUR][1000 genomes]
rs60230439	1.00[EUR][1000 genomes]
rs60294187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60495600	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60725801	1.00[EUR][1000 genomes]
rs61042175	1.00[EUR][1000 genomes]
rs61336075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61437377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304175	1.00[EUR][1000 genomes]
rs7307834	1.00[EUR][1000 genomes]
rs7314155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73393833	1.00[EUR][1000 genomes]
rs73393835	1.00[EUR][1000 genomes]
rs73393837	1.00[EUR][1000 genomes]
rs73393841	1.00[EUR][1000 genomes]
rs73393842	1.00[EUR][1000 genomes]
rs73393866	1.00[EUR][1000 genomes]
rs73393869	1.00[EUR][1000 genomes]
rs73393881	1.00[EUR][1000 genomes]
rs73393882	1.00[EUR][1000 genomes]
rs73395723	1.00[EUR][1000 genomes]
rs73395740	1.00[EUR][1000 genomes]
rs73395744	1.00[EUR][1000 genomes]
rs73395745	1.00[EUR][1000 genomes]
rs73395746	1.00[EUR][1000 genomes]
rs73395758	1.00[EUR][1000 genomes]
rs73395770	1.00[EUR][1000 genomes]
rs73395771	1.00[EUR][1000 genomes]
rs73395772	1.00[EUR][1000 genomes]
rs73395783	1.00[EUR][1000 genomes]
rs73395785	1.00[EUR][1000 genomes]
rs73397621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73397685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399742	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73399757	1.00[AMR][1000 genomes]
rs73399760	1.00[AMR][1000 genomes]
rs73399763	1.00[AMR][1000 genomes]
rs7959931	1.00[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	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105630800-105634400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:105630800-105639000	Weak transcription	Pancreas	Pancrea
3	chr12:105630800-105639000	Weak transcription	NHLF	lung
4	chr12:105632400-105638800	Weak transcription	NHDF-Ad	bronchial
5	chr12:105632800-105634400	Enhancers	Stomach Mucosa	stomach
6	chr12:105633400-105635000	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:105633400-105635200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:105633600-105634400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:105633600-105634400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:105633600-105634600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:105633600-105635200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:105633600-105635200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:105633800-105634600	Enhancers	Primary T cells from cord blood	blood
14	chr12:105633800-105634600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:105633800-105634600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:105633800-105634800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:105633800-105637000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:105633800-105638800	Weak transcription	Osteobl	bone
19	chr12:105633800-105639000	Weak transcription	Gastric	stomach
20	chr12:105633800-105639200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:105634000-105635200	Enhancers	Primary B cells from cord blood	blood
22	chr12:105634200-105634600	Active TSS	Primary hematopoietic stem cells	blood
23	chr12:105634200-105634600	Enhancers	Primary T helper cells fromperipheralblood	blood

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