Variant report

Variant	rs55845457
Chromosome Location	chr12:119628034-119628035
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	chr12:119625475..119628419-chr12:119629003..119631507,2	MCF-7	breast:
2	chr12:119615382..119618298-chr12:119627712..119631261,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152137	Chromatin interaction

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

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

rs_ID	r²[population]
rs11064705	0.83[AMR][1000 genomes]
rs12298452	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304226	1.00[AMR][1000 genomes]
rs13378054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4628742	0.83[AMR][1000 genomes]
rs56134777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56249836	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59338565	0.83[AMR][1000 genomes]
rs60038524	0.83[AMR][1000 genomes]
rs7959112	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7959670	1.00[AMR][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	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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119617400-119629000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:119618800-119631000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:119618800-119639600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:119619200-119631600	Weak transcription	Pancreas	Pancrea
5	chr12:119619200-119639000	Weak transcription	Colonic Mucosa	Colon
6	chr12:119620000-119634000	Weak transcription	HUVEC	blood vessel
7	chr12:119620000-119636200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:119620000-119639200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:119620000-119639600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:119621200-119632200	Weak transcription	Fetal Thymus	thymus
11	chr12:119621800-119629200	Genic enhancers	Placenta	Placenta
12	chr12:119622400-119628800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:119622400-119629000	Weak transcription	Esophagus	oesophagus
14	chr12:119622600-119629000	Weak transcription	Psoas Muscle	Psoas
15	chr12:119623800-119629200	Genic enhancers	Fetal Muscle Leg	muscle
16	chr12:119624200-119629400	Genic enhancers	Left Ventricle	heart
17	chr12:119624400-119629200	Genic enhancers	Rectal Smooth Muscle	rectum
18	chr12:119624400-119629400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:119624600-119629400	Genic enhancers	Colon Smooth Muscle	Colon
20	chr12:119625000-119630600	Weak transcription	NHLF	lung
21	chr12:119625400-119629600	Enhancers	Right Atrium	heart
22	chr12:119625600-119628400	Enhancers	Fetal Heart	heart
23	chr12:119626000-119629200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
24	chr12:119626600-119628200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:119626800-119628200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:119626800-119628200	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr12:119627000-119628200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:119627000-119628400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:119627000-119629000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:119627000-119629800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:119627000-119630800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:119627000-119631400	Weak transcription	HSMM	muscle
33	chr12:119627000-119631600	Weak transcription	Brain Substantia Nigra	brain
34	chr12:119627000-119631800	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:119627000-119632000	Strong transcription	Aorta	Aorta
36	chr12:119627000-119636400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:119627000-119641600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:119627200-119628200	Weak transcription	Brain Angular Gyrus	brain
39	chr12:119627200-119628800	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr12:119627200-119633600	Weak transcription	NH-A	brain
41	chr12:119627200-119634400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:119627200-119639000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:119627400-119631400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:119627400-119635600	Weak transcription	Osteobl	bone
45	chr12:119627600-119628200	Enhancers	Brain Anterior Caudate	brain
46	chr12:119627600-119629600	Enhancers	Spleen	Spleen
47	chr12:119627600-119629800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:119627600-119632600	Strong transcription	Lung	lung
49	chr12:119627600-119641600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:119627800-119628200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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