Variant report

Variant	rs10783431
Chromosome Location	chr12:51723128-51723129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:51722878-51723481	HL-60	blood:	n/a	chr12:51723101-51723108
2	POLR2A	chr12:51722134-51725151	K562	blood:	n/a	n/a
3	ZNF384	chr12:51722911-51723270	K562	blood:	n/a	n/a
4	SPI1	chr12:51723046-51723181	K562	blood:	n/a	chr12:51723101-51723108

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51712710..51714894-chr12:51720855..51723845,2	K562	blood:
2	chr12:51710356..51713645-chr12:51720668..51723733,3	MCF-7	breast:
3	chr12:51719185..51720763-chr12:51721819..51723856,2	MCF-7	breast:
4	chr12:51662774..51665391-chr12:51722763..51725080,2	MCF-7	breast:
5	chr12:51712710..51716828-chr12:51719754..51724043,5	K562	blood:
6	chr12:51686282..51687950-chr12:51722730..51724837,2	MCF-7	breast:
7	chr12:51566806..51568529-chr12:51720798..51723312,2	K562	blood:

No data

Variant related genes	Relation type
BIN2	TF binding region
ENSG00000170545	Chromatin interaction
ENSG00000135457	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11169806	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169813	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11612245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12305814	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12580599	0.96[CEU][hapmap];0.98[TSI][hapmap]
rs12816187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2006749	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3847862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4145127	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4335588	0.80[EUR][1000 genomes]
rs56869579	0.81[EUR][1000 genomes]
rs7138439	0.88[ASW][hapmap];0.86[GIH][hapmap]
rs934089	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9652000	0.88[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	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv469377	chr12:51690751-51733951	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv558877	chr12:51690751-51733951	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51718000-51724400	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:51718000-51724400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:51718400-51723200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:51718400-51723600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr12:51718400-51724400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:51718400-51724400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:51718400-51724400	Enhancers	Placenta	Placenta
8	chr12:51718400-51724400	Enhancers	Fetal Thymus	thymus
9	chr12:51718400-51727800	Weak transcription	Colonic Mucosa	Colon
10	chr12:51719400-51723200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:51719600-51723200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr12:51719600-51723800	Enhancers	Dnd41	blood
13	chr12:51719800-51724200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr12:51720000-51723200	Enhancers	Thymus	Thymus
15	chr12:51720000-51723400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:51720800-51728600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:51720800-51735000	Weak transcription	Esophagus	oesophagus
18	chr12:51721000-51723200	Weak transcription	Stomach Mucosa	stomach
19	chr12:51721000-51724200	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr12:51721000-51724400	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:51721200-51723200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:51721200-51723200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:51721200-51723400	Weak transcription	Osteobl	bone
24	chr12:51721200-51723600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:51721200-51723800	Weak transcription	HSMMtube	muscle
26	chr12:51721200-51724200	Enhancers	Primary B cells from cord blood	blood
27	chr12:51721200-51724600	Weak transcription	A549	lung
28	chr12:51721200-51735000	Weak transcription	NHDF-Ad	bronchial
29	chr12:51721400-51723200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:51721400-51723200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:51721400-51723400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr12:51721400-51723600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:51721400-51723600	Enhancers	Spleen	Spleen
34	chr12:51721400-51723800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:51721400-51723800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:51721400-51724400	Enhancers	GM12878-XiMat	blood
37	chr12:51722000-51724200	Enhancers	K562	blood
38	chr12:51722200-51723400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:51722200-51723600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr12:51722200-51724000	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr12:51722400-51724200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr12:51722400-51724200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr12:51722600-51723400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:51722600-51723800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr12:51722600-51724000	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:51722600-51735000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr12:51722800-51723200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr12:51722800-51723400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr12:51722800-51723800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr12:51722800-51724000	Weak transcription	Hela-S3	cervix

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