Variant report

Variant	rs3782919
Chromosome Location	chr12:119626148-119626149
allele	A/T
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	chr12:119616288..119618204-chr12:119624726..119626315,2	MCF-7	breast:
3	chr12:119616453..119622468-chr12:119623323..119627109,7	MCF-7	breast:
4	chr12:119618981..119622944-chr12:119623767..119626992,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256609	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];1.00[ASN][1000 genomes]
rs11064695	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064699	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064701	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11064704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12227588	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12811848	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812680	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34168259	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34658242	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34689026	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35911573	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66886955	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67681082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68062239	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68067444	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138273	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303637	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304005	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213443	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73213444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7975529	0.80[EUR][1000 genomes]
rs9634173	0.87[AMR][1000 genomes];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:62 , 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	chr12:119618400-119626400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:119618800-119631000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:119618800-119639600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:119619000-119626400	Weak transcription	Osteobl	bone
6	chr12:119619200-119631600	Weak transcription	Pancreas	Pancrea
7	chr12:119619200-119639000	Weak transcription	Colonic Mucosa	Colon
8	chr12:119620000-119626400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:119620000-119634000	Weak transcription	HUVEC	blood vessel
10	chr12:119620000-119636200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:119620000-119639200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:119620000-119639600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:119621000-119626400	Weak transcription	HSMM	muscle
14	chr12:119621200-119626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:119621200-119632200	Weak transcription	Fetal Thymus	thymus
16	chr12:119621800-119629200	Genic enhancers	Placenta	Placenta
17	chr12:119622400-119626400	Weak transcription	NH-A	brain
18	chr12:119622400-119626800	Weak transcription	NHDF-Ad	bronchial
19	chr12:119622400-119628800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:119622400-119629000	Weak transcription	Esophagus	oesophagus
21	chr12:119622600-119629000	Weak transcription	Psoas Muscle	Psoas
22	chr12:119622800-119626400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:119623800-119629200	Genic enhancers	Fetal Muscle Leg	muscle
24	chr12:119624200-119626200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:119624200-119626600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:119624200-119627600	Genic enhancers	Lung	lung
27	chr12:119624200-119629400	Genic enhancers	Left Ventricle	heart
28	chr12:119624400-119626200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:119624400-119626200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:119624400-119626400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:119624400-119626400	Weak transcription	Fetal Lung	lung
32	chr12:119624400-119626400	Strong transcription	Placenta Amnion	Placenta Amnion
33	chr12:119624400-119626600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:119624400-119626800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr12:119624400-119629200	Genic enhancers	Rectal Smooth Muscle	rectum
36	chr12:119624400-119629400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
37	chr12:119624600-119626400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:119624600-119629400	Genic enhancers	Colon Smooth Muscle	Colon
39	chr12:119624800-119626200	Strong transcription	Fetal Stomach	stomach
40	chr12:119624800-119626400	Weak transcription	Brain Angular Gyrus	brain
41	chr12:119624800-119626400	Genic enhancers	Stomach Smooth Muscle	stomach
42	chr12:119624800-119626400	Weak transcription	HSMMtube	muscle
43	chr12:119624800-119627000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
44	chr12:119625000-119626200	Strong transcription	Adipose Nuclei	Adipose
45	chr12:119625000-119627800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:119625000-119627800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:119625000-119630600	Weak transcription	NHLF	lung
48	chr12:119625400-119626400	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr12:119625400-119626800	Genic enhancers	Right Ventricle	heart
50	chr12:119625400-119627000	Genic enhancers	Aorta	Aorta

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