Variant report

Variant	rs57448746
Chromosome Location	chr12:105631564-105631565
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:105631495-105631575	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105500608..105502385-chr12:105631430..105634044,2	K562	blood:
2	chr12:105606795..105619301-chr12:105624368..105633184,26	MCF-7	breast:
3	chr12:105610784..105617210-chr12:105628529..105631630,8	MCF-7	breast:
4	chr12:105529161..105531125-chr12:105630136..105632646,2	K562	blood:
5	chr12:105630089..105632839-chr12:105665320..105668612,3	MCF-7	breast:

No data

Variant related genes	Relation type
APPL2	TF binding region
ENSG00000136051	Chromatin interaction
ENSG00000136044	Chromatin interaction
ENSG00000257999	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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763991	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57393988	1.00[EUR][1000 genomes]
rs57456392	1.00[EUR][1000 genomes]
rs57618699	0.92[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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59143432	0.92[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	0.84[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	0.84[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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61437377	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294681	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297845	0.92[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	0.92[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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397655	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397656	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397659	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397660	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397661	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397663	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397672	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397677	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397678	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397680	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397683	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397684	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73397685	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397687	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397688	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397690	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397700	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397701	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399708	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399717	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399720	0.92[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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399730	0.92[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105630200-105633200	Weak transcription	Gastric	stomach
2	chr12:105630600-105633000	Weak transcription	Fetal Intestine Small	intestine
3	chr12:105630600-105633600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:105630600-105633800	Weak transcription	Primary T cells from cord blood	blood
5	chr12:105630600-105634000	Weak transcription	Primary B cells from cord blood	blood
6	chr12:105630800-105631600	Enhancers	NHDF-Ad	bronchial
7	chr12:105630800-105632200	Weak transcription	Psoas Muscle	Psoas
8	chr12:105630800-105632200	Weak transcription	Stomach Mucosa	stomach
9	chr12:105630800-105632200	Weak transcription	HepG2	liver
10	chr12:105630800-105632800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:105630800-105632800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:105630800-105632800	Weak transcription	Osteobl	bone
13	chr12:105630800-105633000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:105630800-105633000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:105630800-105633000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:105630800-105633000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:105630800-105633000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:105630800-105633400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:105630800-105633400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:105630800-105633600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:105630800-105633600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:105630800-105633600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:105630800-105633600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:105630800-105633800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr12:105630800-105633800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:105630800-105633800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:105630800-105633800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr12:105630800-105634200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:105630800-105634200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:105630800-105634400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr12:105630800-105639000	Weak transcription	Pancreas	Pancrea
32	chr12:105630800-105639000	Weak transcription	NHLF	lung
33	chr12:105631400-105632600	Weak transcription	Rectal Mucosa Donor 31	rectum

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