Variant report

Variant	rs2555292
Chromosome Location	chr12:119645989-119645990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119639986..119643300-chr12:119644923..119647932,3	MCF-7	breast:
2	chr12:119616176..119619939-chr12:119645007..119648032,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152137	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1544902	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2467020	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2555293	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555294	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2555295	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2727680	0.81[EUR][1000 genomes]
rs2727681	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2727682	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2727683	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2727684	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2727723	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs734857	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs734858	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv899550	chr12:119581131-119654315	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832528	chr12:119638211-119793401	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119627800-119646600	Weak transcription	Gastric	stomach
2	chr12:119643200-119646000	Weak transcription	Psoas Muscle	Psoas
3	chr12:119643200-119649800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:119644000-119647200	Enhancers	Colon Smooth Muscle	Colon
5	chr12:119644000-119647200	Enhancers	Fetal Muscle Leg	muscle
6	chr12:119644200-119646200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr12:119644200-119647000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:119644200-119647000	Enhancers	Fetal Lung	lung
9	chr12:119644200-119647200	Enhancers	Rectal Smooth Muscle	rectum
10	chr12:119644400-119646000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr12:119644600-119646800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:119644600-119647000	Enhancers	Brain Substantia Nigra	brain
13	chr12:119645000-119646800	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr12:119645000-119647000	Enhancers	Brain Anterior Caudate	brain
15	chr12:119645000-119647000	Enhancers	Fetal Stomach	stomach
16	chr12:119645000-119647200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:119645200-119647200	Enhancers	Placenta	Placenta
18	chr12:119645200-119647200	Enhancers	Right Atrium	heart
19	chr12:119645200-119647200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr12:119645400-119646000	Weak transcription	Left Ventricle	heart
21	chr12:119645400-119646400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:119645400-119646600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:119645600-119648200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:119645600-119654200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:119645800-119646200	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr12:119645800-119646600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:119645800-119646800	Enhancers	Fetal Heart	heart
28	chr12:119645800-119647200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr12:119645800-119647200	Enhancers	Right Ventricle	heart
30	chr12:119645800-119647400	Enhancers	Esophagus	oesophagus
31	chr12:119645800-119647600	Enhancers	Adipose Nuclei	Adipose

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