Variant report

Variant	rs57023093
Chromosome Location	chr12:123387029-123387030
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123386558..123390013-chr12:123395024..123397384,3	MCF-7	breast:
2	chr12:123371782..123374478-chr12:123385509..123387711,2	K562	blood:
3	chr12:123379239..123381321-chr12:123385286..123388225,2	K562	blood:
4	chr12:123378665..123382104-chr12:123382212..123387589,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139722	Chromatin interaction

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

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

rs_ID	r²[population]
rs34647278	1.00[AMR][1000 genomes]
rs35245907	1.00[AMR][1000 genomes]
rs58901651	1.00[AMR][1000 genomes]
rs59065210	1.00[AMR][1000 genomes]
rs60009235	1.00[AMR][1000 genomes]
rs60448869	1.00[AMR][1000 genomes]
rs60589503	1.00[AMR][1000 genomes]
rs61520028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406914	1.00[AMR][1000 genomes]
rs73406940	1.00[AMR][1000 genomes]
rs73406948	1.00[AMR][1000 genomes]
rs73406954	1.00[AMR][1000 genomes]
rs73406957	1.00[AMR][1000 genomes]
rs73406959	1.00[AMR][1000 genomes]
rs73406973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406977	1.00[AMR][1000 genomes]
rs73415564	1.00[AMR][1000 genomes]
rs73421628	1.00[AMR][1000 genomes]
rs73421644	1.00[AMR][1000 genomes]
rs73421649	1.00[AMR][1000 genomes]
rs73421661	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv3413472	chr12:123385966-123388318	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123381000-123387400	Weak transcription	Liver	Liver
2	chr12:123381000-123387400	Weak transcription	Fetal Heart	heart
3	chr12:123381000-123387800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:123381200-123387400	Weak transcription	Fetal Brain Female	brain
5	chr12:123381200-123387600	Weak transcription	Fetal Intestine Large	intestine
6	chr12:123381200-123388400	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:123383600-123387400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:123383600-123387400	Weak transcription	A549	lung
9	chr12:123383600-123387800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:123383800-123387200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:123383800-123387600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:123383800-123387600	Weak transcription	Stomach Mucosa	stomach
13	chr12:123383800-123394600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:123384000-123387200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:123384000-123387400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:123384000-123387400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:123384000-123387800	Weak transcription	Brain Angular Gyrus	brain
18	chr12:123384400-123387200	Weak transcription	Colonic Mucosa	Colon
19	chr12:123384400-123387400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:123384800-123387800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:123384800-123387800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:123384800-123387800	Weak transcription	Fetal Thymus	thymus
23	chr12:123384800-123387800	Weak transcription	Pancreas	Pancrea
24	chr12:123385000-123387400	Weak transcription	HepG2	liver
25	chr12:123386200-123387800	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:123386400-123387400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:123386400-123387400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:123386400-123387400	Weak transcription	Fetal Intestine Small	intestine
29	chr12:123386400-123387800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:123386400-123388000	Enhancers	GM12878-XiMat	blood
31	chr12:123386400-123388800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:123386600-123387600	Weak transcription	K562	blood
33	chr12:123386600-123389000	Enhancers	Primary B cells from cord blood	blood
34	chr12:123386600-123394200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr12:123386800-123387600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:123387000-123387800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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