Variant report

Variant	rs12300871
Chromosome Location	chr12:119630416-119630417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:119625475..119628419-chr12:119629003..119631507,2	MCF-7	breast:
2	chr12:119616618..119618399-chr12:119629584..119631390,2	MCF-7	breast:
3	chr12:119628109..119630977-chr12:119631135..119633567,2	K562	blood:
4	chr12:119615382..119618298-chr12:119627712..119631261,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152137	Chromatin interaction
ENSG00000213144	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11064723	1.00[AMR][1000 genomes]
rs12296614	1.00[AMR][1000 genomes]
rs12297189	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12298987	1.00[AMR][1000 genomes]
rs12299039	1.00[AMR][1000 genomes]
rs12303668	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304236	1.00[AMR][1000 genomes]
rs12307998	1.00[AMR][1000 genomes]
rs28515693	1.00[AMR][1000 genomes]
rs7310373	1.00[AMR][1000 genomes]
rs7311389	1.00[AMR][1000 genomes]
rs7977260	1.00[AMR][1000 genomes]
rs7978697	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119618800-119631000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:119618800-119639600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:119619200-119631600	Weak transcription	Pancreas	Pancrea
4	chr12:119619200-119639000	Weak transcription	Colonic Mucosa	Colon
5	chr12:119620000-119634000	Weak transcription	HUVEC	blood vessel
6	chr12:119620000-119636200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:119620000-119639200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:119620000-119639600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:119621200-119632200	Weak transcription	Fetal Thymus	thymus
10	chr12:119625000-119630600	Weak transcription	NHLF	lung
11	chr12:119627000-119630800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:119627000-119631400	Weak transcription	HSMM	muscle
13	chr12:119627000-119631600	Weak transcription	Brain Substantia Nigra	brain
14	chr12:119627000-119631800	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:119627000-119632000	Strong transcription	Aorta	Aorta
16	chr12:119627000-119636400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:119627000-119641600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:119627200-119633600	Weak transcription	NH-A	brain
19	chr12:119627200-119634400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:119627200-119639000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:119627400-119631400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:119627400-119635600	Weak transcription	Osteobl	bone
23	chr12:119627600-119632600	Strong transcription	Lung	lung
24	chr12:119627600-119641600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:119627800-119631000	Weak transcription	Ovary	ovary
26	chr12:119627800-119632000	Weak transcription	Fetal Lung	lung
27	chr12:119627800-119632400	Strong transcription	HSMMtube	muscle
28	chr12:119627800-119632800	Strong transcription	Adipose Nuclei	Adipose
29	chr12:119627800-119646600	Weak transcription	Gastric	stomach
30	chr12:119628000-119631400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:119628200-119631400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:119628200-119631600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:119628200-119632000	Weak transcription	Fetal Stomach	stomach
34	chr12:119628200-119636200	Weak transcription	Brain Anterior Caudate	brain
35	chr12:119628400-119641200	Weak transcription	Fetal Heart	heart
36	chr12:119628600-119631400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:119628800-119631000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:119628800-119631200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:119629200-119630600	Weak transcription	Psoas Muscle	Psoas
40	chr12:119629200-119630800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:119629200-119630800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:119629200-119631000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:119629200-119633400	Strong transcription	Fetal Muscle Leg	muscle
44	chr12:119629200-119633400	Strong transcription	Right Ventricle	heart
45	chr12:119629200-119634400	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:119629200-119634400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr12:119629200-119634600	Strong transcription	Placenta	Placenta
48	chr12:119629200-119635200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:119629400-119632200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:119629400-119633400	Strong transcription	Left Ventricle	heart

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