Variant report

Variant	rs550093671
Chromosome Location	chr12:119639057-119639058
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	chr12:119634370..119636287-chr12:119638890..119640452,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119618800-119639600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:119620000-119639200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:119620000-119639600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:119627000-119641600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:119627600-119641600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:119627800-119646600	Weak transcription	Gastric	stomach
7	chr12:119628400-119641200	Weak transcription	Fetal Heart	heart
8	chr12:119631200-119639200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:119632000-119642200	Weak transcription	Brain Substantia Nigra	brain
10	chr12:119632200-119642200	Weak transcription	Psoas Muscle	Psoas
11	chr12:119632400-119641400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:119632400-119641400	Weak transcription	HSMMtube	muscle
13	chr12:119632400-119642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:119633400-119640200	Weak transcription	Right Ventricle	heart
15	chr12:119633800-119639600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:119633800-119640600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:119633800-119641600	Weak transcription	Adipose Nuclei	Adipose
18	chr12:119634400-119640400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:119634400-119642000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:119636600-119640200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:119636600-119644200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:119636600-119645000	Weak transcription	Brain Anterior Caudate	brain
23	chr12:119636800-119640000	Weak transcription	Right Atrium	heart
24	chr12:119637400-119640200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:119637400-119640400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:119637400-119645800	Weak transcription	Esophagus	oesophagus
27	chr12:119638400-119639200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr12:119638400-119640600	Weak transcription	Placenta	Placenta
29	chr12:119638600-119642000	Enhancers	Fetal Lung	lung
30	chr12:119638600-119643400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:119638800-119642000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:119638800-119643600	Enhancers	Fetal Muscle Leg	muscle
33	chr12:119639000-119639200	Enhancers	Lung	lung
34	chr12:119639000-119639400	Weak transcription	Left Ventricle	heart
35	chr12:119639000-119640000	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:119639000-119642800	Enhancers	H1 Cell Line	embryonic stem cell

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