Variant report

Variant	rs1235152
Chromosome Location	chr12:48104746-48104747
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48098316..48105030-chr12:48164986..48170762,10	K562	blood:
2	chr12:48097267..48105309-chr12:48111877..48120917,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000211584	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000111405	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10875683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168187	0.86[ASN][1000 genomes]
rs11168194	0.81[JPT][hapmap]
rs11168212	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168219	0.86[ASN][1000 genomes]
rs11168220	0.82[ASN][1000 genomes]
rs11830795	0.93[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11834770	0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12812460	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12812960	0.94[ASN][1000 genomes]
rs12819759	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12820269	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12828238	0.86[ASN][1000 genomes]
rs2003471	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2074531	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074532	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238144	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs2239188	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285830	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3764015	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764016	0.99[ASN][1000 genomes]
rs3764018	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764019	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764020	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4505143	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4537844	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6580635	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580636	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133585	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs726588	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7302276	0.94[ASN][1000 genomes]
rs7306556	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7967336	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967546	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976708	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48100000-48109200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:48100000-48111200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:48100400-48105400	Weak transcription	Esophagus	oesophagus
4	chr12:48100600-48106200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:48100600-48106800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:48100600-48108800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:48100600-48109000	Weak transcription	Aorta	Aorta
8	chr12:48100600-48109000	Weak transcription	Lung	lung
9	chr12:48100800-48104800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr12:48100800-48106800	Weak transcription	Fetal Stomach	stomach
11	chr12:48100800-48108800	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:48100800-48108800	Weak transcription	Right Ventricle	heart
13	chr12:48100800-48109400	Weak transcription	HSMM	muscle
14	chr12:48101000-48105200	Enhancers	Primary B cells from peripheral blood	blood
15	chr12:48101000-48108800	Weak transcription	Brain Angular Gyrus	brain
16	chr12:48101000-48108800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:48101000-48108800	Weak transcription	Brain Substantia Nigra	brain
18	chr12:48101000-48108800	Weak transcription	Fetal Lung	lung
19	chr12:48101000-48108800	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:48101000-48109000	Weak transcription	Fetal Heart	heart
21	chr12:48101000-48109200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:48101000-48109200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:48101200-48105400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr12:48101200-48109200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:48101400-48104800	Enhancers	Primary B cells from cord blood	blood
26	chr12:48101400-48108000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:48101400-48108800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:48101400-48108800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:48101400-48109600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:48101400-48111000	Weak transcription	Colonic Mucosa	Colon
31	chr12:48101400-48111200	Weak transcription	Small Intestine	intestine
32	chr12:48101800-48111200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:48102000-48104800	Enhancers	Primary hematopoietic stem cells	blood
34	chr12:48102000-48109200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:48102200-48108200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:48102200-48108200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:48102200-48108800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:48102200-48108800	Weak transcription	Spleen	Spleen
39	chr12:48102200-48109000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr12:48102400-48108800	Weak transcription	Liver	Liver
41	chr12:48102800-48125000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr12:48103000-48109200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr12:48103000-48109400	Weak transcription	Primary T cells from cord blood	blood
44	chr12:48103200-48109000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:48103200-48109000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:48103200-48111200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:48103400-48109000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr12:48103400-48111000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:48103600-48104800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:48103600-48108600	Weak transcription	Adipose Nuclei	Adipose

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