Variant report

Variant	rs68062239
Chromosome Location	chr12:119629688-119629689
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
ENSG00000213144	Chromatin interaction
ENSG00000152137	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11064694	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064695	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064699	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064701	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11064704	1.00[EUR][1000 genomes]
rs12227588	0.98[EUR][1000 genomes]
rs12811848	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12812680	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34168259	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34658242	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34689026	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35911573	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3782919	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66886955	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67681082	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68067444	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7138273	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7303637	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7304005	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73213443	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73213444	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7975529	0.80[EUR][1000 genomes]
rs9634173	0.80[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	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	chr12:119627000-119629800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:119627000-119630800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:119627000-119631400	Weak transcription	HSMM	muscle
14	chr12:119627000-119631600	Weak transcription	Brain Substantia Nigra	brain
15	chr12:119627000-119631800	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:119627000-119632000	Strong transcription	Aorta	Aorta
17	chr12:119627000-119636400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:119627000-119641600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:119627200-119633600	Weak transcription	NH-A	brain
20	chr12:119627200-119634400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:119627200-119639000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:119627400-119631400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:119627400-119635600	Weak transcription	Osteobl	bone
24	chr12:119627600-119629800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:119627600-119632600	Strong transcription	Lung	lung
26	chr12:119627600-119641600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:119627800-119631000	Weak transcription	Ovary	ovary
28	chr12:119627800-119632000	Weak transcription	Fetal Lung	lung
29	chr12:119627800-119632400	Strong transcription	HSMMtube	muscle
30	chr12:119627800-119632800	Strong transcription	Adipose Nuclei	Adipose
31	chr12:119627800-119646600	Weak transcription	Gastric	stomach
32	chr12:119628000-119631400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:119628200-119631400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:119628200-119631600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:119628200-119632000	Weak transcription	Fetal Stomach	stomach
36	chr12:119628200-119636200	Weak transcription	Brain Anterior Caudate	brain
37	chr12:119628400-119641200	Weak transcription	Fetal Heart	heart
38	chr12:119628600-119631400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:119628800-119629800	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr12:119628800-119631000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:119628800-119631200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:119629200-119630600	Weak transcription	Psoas Muscle	Psoas
43	chr12:119629200-119630800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:119629200-119630800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:119629200-119631000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:119629200-119633400	Strong transcription	Fetal Muscle Leg	muscle
47	chr12:119629200-119633400	Strong transcription	Right Ventricle	heart
48	chr12:119629200-119634400	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:119629200-119634400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr12:119629200-119634600	Strong transcription	Placenta	Placenta

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