Variant report

Variant	rs74106266
Chromosome Location	chr12:83078619-83078620
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:83072653..83078667-chr12:83078860..83082223,14	MCF-7	breast:
2	chr12:83077297..83078842-chr12:83272817..83275278,2	MCF-7	breast:
3	chr12:83077655..83080172-chr12:83389847..83391869,2	MCF-7	breast:
4	chr12:83075987..83078783-chr12:83079698..83081470,2	K562	blood:
5	chr12:83045168..83046859-chr12:83077129..83078918,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179104	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12313503	0.86[AMR][1000 genomes]
rs12425493	0.91[AMR][1000 genomes]
rs12578600	0.91[AMR][1000 genomes]
rs13378007	0.89[AMR][1000 genomes]
rs17009829	0.86[AMR][1000 genomes]
rs17009863	0.91[AMR][1000 genomes]
rs17009868	0.91[AMR][1000 genomes]
rs1882582	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1922578	0.86[AMR][1000 genomes]
rs4882521	0.86[AMR][1000 genomes]
rs4882522	0.86[AMR][1000 genomes]
rs57227638	0.89[AMR][1000 genomes]
rs57715118	0.83[AMR][1000 genomes]
rs60454381	0.89[AMR][1000 genomes]
rs6539680	0.86[AMR][1000 genomes]
rs7303441	0.86[AMR][1000 genomes]
rs7306509	0.88[AMR][1000 genomes]
rs7311617	0.84[AMR][1000 genomes]
rs7311886	0.86[AMR][1000 genomes]
rs7313780	0.88[AMR][1000 genomes]
rs7315791	0.86[AMR][1000 genomes]
rs74106270	0.89[AMR][1000 genomes]
rs7979455	0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv899349	chr12:82931646-83114286	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83075800-83079600	Enhancers	Stomach Mucosa	stomach
2	chr12:83076200-83079400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr12:83076200-83079600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:83076600-83079600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:83076800-83079400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:83076800-83079400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:83076800-83079400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:83076800-83079400	Weak transcription	Brain Substantia Nigra	brain
9	chr12:83076800-83079400	Weak transcription	Fetal Kidney	kidney
10	chr12:83077000-83079400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:83077000-83079400	Weak transcription	Brain Germinal Matrix	brain
12	chr12:83077000-83079400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:83077000-83079400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:83077000-83079400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:83077000-83079400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:83077000-83079400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:83077000-83079400	Weak transcription	HMEC	breast
18	chr12:83077000-83079600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:83077000-83079600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:83077000-83079600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:83077000-83079600	Weak transcription	Brain Anterior Caudate	brain
22	chr12:83077000-83079600	Weak transcription	Fetal Brain Female	brain
23	chr12:83077000-83079600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:83077200-83079400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:83077200-83079400	Weak transcription	Adipose Nuclei	Adipose
26	chr12:83077200-83079400	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:83077200-83079400	Weak transcription	Fetal Lung	lung
28	chr12:83077200-83079400	Weak transcription	NHEK	skin
29	chr12:83077200-83079600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:83077200-83079600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:83077400-83079400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:83077400-83079400	Weak transcription	Fetal Brain Male	brain
33	chr12:83077400-83079400	Weak transcription	Hela-S3	cervix
34	chr12:83077400-83079600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:83077600-83079400	Weak transcription	Fetal Stomach	stomach
36	chr12:83077600-83079400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:83078600-83079000	Weak transcription	GM12878-XiMat	blood

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