Variant report

Variant	rs554479178
Chromosome Location	chr12:123919726-123919727
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123914176..123916754-chr12:123917064..123919737,4	K562	blood:
2	chr12:123918432..123921016-chr12:123934034..123936294,2	K562	blood:
3	chr12:123918384..123920794-chr12:123967775..123969543,2	K562	blood:
4	chr12:123872355..123875545-chr12:123919640..123922793,3	MCF-7	breast:
5	chr12:123919342..123922431-chr12:123924734..123927863,4	MCF-7	breast:
6	chr12:123914176..123916754-chr12:123917064..123919737,2	K562	blood:

Variant related genes	Relation type
ENSG00000270445	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000188026	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123891200-123920400	Weak transcription	Psoas Muscle	Psoas
2	chr12:123891600-123919800	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:123891600-123920000	Weak transcription	Small Intestine	intestine
4	chr12:123892200-123920200	Weak transcription	NH-A	brain
5	chr12:123892800-123920000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:123894000-123920600	Weak transcription	HSMMtube	muscle
7	chr12:123894800-123920000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:123895200-123920000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:123895200-123920000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:123895200-123920000	Weak transcription	HSMM	muscle
11	chr12:123895200-123920000	Weak transcription	NHLF	lung
12	chr12:123895200-123920200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:123895200-123920200	Weak transcription	A549	lung
14	chr12:123907600-123920000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:123907600-123920200	Weak transcription	Placenta	Placenta
16	chr12:123907600-123920200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:123907800-123920000	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:123908600-123920200	Weak transcription	Fetal Intestine Small	intestine
19	chr12:123912200-123919800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:123912200-123920200	Weak transcription	Esophagus	oesophagus
21	chr12:123912200-123920200	Weak transcription	Stomach Mucosa	stomach
22	chr12:123912200-123920400	Weak transcription	Fetal Intestine Large	intestine
23	chr12:123912800-123920000	Weak transcription	Liver	Liver
24	chr12:123913400-123920000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:123913600-123920000	Weak transcription	Brain Substantia Nigra	brain
26	chr12:123913600-123920000	Weak transcription	Fetal Lung	lung
27	chr12:123915400-123919800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:123915800-123920000	Weak transcription	Ovary	ovary
29	chr12:123916200-123920000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:123916200-123920200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr12:123916600-123919800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:123916800-123920000	Enhancers	Primary B cells from peripheral blood	blood
33	chr12:123916800-123920000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:123916800-123920800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:123916800-123921000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr12:123916800-123921000	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr12:123917000-123919800	Enhancers	Dnd41	blood
38	chr12:123917000-123920000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr12:123917000-123920000	Enhancers	Fetal Thymus	thymus
40	chr12:123917200-123919800	Enhancers	Brain Anterior Caudate	brain
41	chr12:123917200-123920200	Active TSS	Duodenum Mucosa	Duodenum
42	chr12:123917200-123920400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:123917200-123920800	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr12:123917200-123921800	Active TSS	Aorta	Aorta
45	chr12:123917400-123919800	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr12:123917400-123919800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:123917400-123919800	Weak transcription	Thymus	Thymus
48	chr12:123917400-123920000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:123917600-123919800	Weak transcription	Fetal Kidney	kidney
50	chr12:123917600-123919800	Weak transcription	HUVEC	blood vessel

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