Variant report

Variant	rs534363719
Chromosome Location	chr12:66553663-66553664
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	chr12:66550852..66561080-chr12:66561565..66565303,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155957	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899214	chr12:66516692-66556960	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv541516	chr12:66547969-66596036	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv976636	chr12:66553474-66556236	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66525400-66562400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:66525600-66561800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:66526600-66557200	Weak transcription	Psoas Muscle	Psoas
4	chr12:66527000-66554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:66533800-66553800	Weak transcription	Esophagus	oesophagus
6	chr12:66533800-66554400	Weak transcription	Lung	lung
7	chr12:66534600-66555600	Weak transcription	Small Intestine	intestine
8	chr12:66536200-66558000	Weak transcription	Fetal Brain Female	brain
9	chr12:66536400-66556200	Weak transcription	Right Ventricle	heart
10	chr12:66536400-66557600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:66536400-66562400	Weak transcription	HMEC	breast
12	chr12:66536800-66556200	Weak transcription	Left Ventricle	heart
13	chr12:66537400-66556200	Weak transcription	Ovary	ovary
14	chr12:66538400-66556200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:66538600-66560400	Weak transcription	Fetal Brain Male	brain
16	chr12:66539200-66558400	Weak transcription	A549	lung
17	chr12:66539400-66556200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:66539400-66561400	Weak transcription	Fetal Heart	heart
19	chr12:66539400-66562200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:66542800-66563000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:66544200-66557600	Weak transcription	K562	blood
22	chr12:66545400-66554600	Weak transcription	Pancreas	Pancrea
23	chr12:66545400-66555000	Weak transcription	GM12878-XiMat	blood
24	chr12:66547400-66562000	Weak transcription	HUVEC	blood vessel
25	chr12:66548400-66562200	Weak transcription	Brain Anterior Caudate	brain
26	chr12:66548600-66562000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:66549200-66561800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:66549200-66561800	Weak transcription	Right Atrium	heart
29	chr12:66550000-66557600	Strong transcription	Primary T cells from cord blood	blood
30	chr12:66550200-66557400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:66550400-66559200	Weak transcription	Colonic Mucosa	Colon
32	chr12:66550600-66555000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:66551200-66560400	Weak transcription	HepG2	liver
34	chr12:66551400-66558000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr12:66552200-66556000	Strong transcription	Dnd41	blood
36	chr12:66552400-66554000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr12:66552400-66554200	Strong transcription	Primary hematopoietic stem cells	blood
38	chr12:66552400-66554400	Strong transcription	Fetal Intestine Large	intestine
39	chr12:66552400-66555000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr12:66552400-66555400	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr12:66552600-66554000	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr12:66552600-66554000	Strong transcription	Brain Substantia Nigra	brain
43	chr12:66552600-66554000	Genic enhancers	Monocytes-CD14+_RO01746	blood
44	chr12:66552600-66554200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:66552600-66554400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:66552600-66554800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:66552600-66555600	Strong transcription	Primary B cells from cord blood	blood
48	chr12:66552600-66556000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:66552800-66553800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:66552800-66553800	Genic enhancers	Primary monocytes fromperipheralblood	blood

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