Variant report

Variant	rs28468612
Chromosome Location	chr12:122013607-122013608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:122009958..122015218-chr12:122015373..122021843,8	K562	blood:
2	chr12:122005636..122007541-chr12:122010877..122013772,3	K562	blood:
3	chr12:122011717..122015728-chr12:122062639..122068006,6	MCF-7	breast:
4	chr12:122013141..122015598-chr12:122108838..122111528,2	MCF-7	breast:
5	chr12:121997898..122000701-chr12:122012949..122016939,4	MCF-7	breast:
6	chr12:122011020..122013695-chr12:122061585..122064129,2	K562	blood:
7	chr12:122011808..122013915-chr12:122017353..122019208,2	MCF-7	breast:
8	chr12:122011245..122016704-chr12:122016774..122020216,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139714	Chromatin interaction
ENSG00000256742	Chromatin interaction
ENSG00000182500	Chromatin interaction
ENSG00000089094	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs28461264	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28490151	0.97[EUR][1000 genomes]
rs4760124	0.85[CEU][hapmap]
rs4981001	0.97[EUR][1000 genomes]
rs4981012	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.85[TSI][hapmap];0.97[EUR][1000 genomes]
rs60186830	0.97[EUR][1000 genomes]
rs7313954	0.85[EUR][1000 genomes]
rs73227908	0.97[EUR][1000 genomes]
rs73227911	0.97[EUR][1000 genomes]
rs73227913	0.97[EUR][1000 genomes]
rs7397580	0.90[EUR][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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121976600-122014600	Weak transcription	Colonic Mucosa	Colon
2	chr12:121977200-122015200	Weak transcription	Small Intestine	intestine
3	chr12:121987600-122016800	Weak transcription	Aorta	Aorta
4	chr12:121996200-122015400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:121999400-122014200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:122003200-122013800	Weak transcription	Esophagus	oesophagus
7	chr12:122005200-122014400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:122006200-122014600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:122006400-122013800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:122006600-122014800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr12:122007000-122013800	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr12:122007000-122014600	Weak transcription	Fetal Kidney	kidney
13	chr12:122007400-122013800	Weak transcription	Fetal Brain Male	brain
14	chr12:122007400-122014400	Weak transcription	GM12878-XiMat	blood
15	chr12:122007600-122014400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:122007600-122014600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:122007600-122014600	Weak transcription	A549	lung
18	chr12:122007600-122014600	Weak transcription	HSMM	muscle
19	chr12:122008000-122014600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:122008000-122016000	Weak transcription	Right Atrium	heart
21	chr12:122008200-122014000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:122008200-122014000	Strong transcription	Fetal Thymus	thymus
23	chr12:122008200-122014800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:122008400-122013800	Strong transcription	Fetal Stomach	stomach
25	chr12:122008600-122013800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:122008800-122014200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:122009200-122013800	Weak transcription	NH-A	brain
28	chr12:122009200-122014200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:122009600-122014800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:122010200-122014000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:122010800-122015200	Weak transcription	Primary B cells from cord blood	blood
32	chr12:122011200-122014000	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr12:122011200-122016200	Weak transcription	HUVEC	blood vessel
34	chr12:122011400-122013800	Strong transcription	Adipose Nuclei	Adipose
35	chr12:122011600-122014200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:122011600-122014200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:122011600-122014200	Strong transcription	Dnd41	blood
38	chr12:122011600-122014400	Strong transcription	Thymus	Thymus
39	chr12:122011800-122013800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:122011800-122013800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr12:122011800-122013800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:122011800-122013800	Strong transcription	Brain Hippocampus Middle	brain
43	chr12:122011800-122013800	Strong transcription	Placenta	Placenta
44	chr12:122011800-122013800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr12:122011800-122014000	Strong transcription	Brain Angular Gyrus	brain
46	chr12:122011800-122014200	Strong transcription	Primary T cells from cord blood	blood
47	chr12:122011800-122014200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:122011800-122014200	Strong transcription	Lung	lung
49	chr12:122011800-122014600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:122011800-122016000	Enhancers	Rectal Mucosa Donor 31	rectum

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