Variant report

Variant	rs60380757
Chromosome Location	chr12:119642384-119642385
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	chr12:119641619..119642425-chr21:40721169..40721890,2	MCF-7	breast:
2	chr12:119639986..119643300-chr12:119644923..119647932,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205581	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11064706	0.85[ASN][1000 genomes]
rs12424136	0.85[ASN][1000 genomes]
rs56033563	0.90[AFR][1000 genomes]
rs7311047	0.82[ASN][1000 genomes]
rs73412051	0.95[AFR][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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119627800-119646600	Weak transcription	Gastric	stomach
2	chr12:119636600-119644200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:119636600-119645000	Weak transcription	Brain Anterior Caudate	brain
4	chr12:119637400-119645800	Weak transcription	Esophagus	oesophagus
5	chr12:119638600-119643400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:119638800-119643600	Enhancers	Fetal Muscle Leg	muscle
7	chr12:119639000-119642800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:119639200-119643000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:119639400-119643200	Enhancers	Left Ventricle	heart
10	chr12:119639600-119643200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:119640000-119642800	Enhancers	Right Atrium	heart
12	chr12:119640200-119643200	Enhancers	Rectal Smooth Muscle	rectum
13	chr12:119640400-119643000	Enhancers	Fetal Stomach	stomach
14	chr12:119640400-119643000	Enhancers	Stomach Smooth Muscle	stomach
15	chr12:119640400-119643200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr12:119640600-119643200	Enhancers	Placenta	Placenta
17	chr12:119640600-119643200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr12:119640800-119644200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:119640800-119644200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:119640800-119645200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:119641200-119643200	Enhancers	Fetal Heart	heart
22	chr12:119641400-119642400	Enhancers	Fetal Brain Male	brain
23	chr12:119641400-119642400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr12:119641400-119642400	Enhancers	HSMMtube	muscle
25	chr12:119641400-119642600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr12:119641400-119642800	Enhancers	Lung	lung
27	chr12:119641400-119644600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:119641600-119643000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr12:119641600-119643200	Enhancers	Adipose Nuclei	Adipose
30	chr12:119641800-119642400	Enhancers	Colon Smooth Muscle	Colon
31	chr12:119641800-119642400	Enhancers	Fetal Kidney	kidney
32	chr12:119641800-119643000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:119642000-119642400	Flanking Active TSS	Fetal Lung	lung
34	chr12:119642000-119642400	Weak transcription	Right Ventricle	heart
35	chr12:119642000-119642600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:119642000-119643000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr12:119642000-119643200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:119642000-119643200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr12:119642000-119643200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:119642000-119644000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:119642200-119642400	Enhancers	Brain Hippocampus Middle	brain
42	chr12:119642200-119642800	Enhancers	H9 Cell Line	embryonic stem cell
43	chr12:119642200-119642800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:119642200-119642800	Enhancers	Brain Substantia Nigra	brain
45	chr12:119642200-119643200	Enhancers	Psoas Muscle	Psoas

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