Variant report

Variant	rs575571915
Chromosome Location	chr12:117550119-117550120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117549512..117551256-chr12:117563956..117566230,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv899542	chr12:117549739-117623136	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117537600-117556400	Weak transcription	Right Atrium	heart
2	chr12:117548200-117550600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:117548200-117551800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:117548400-117550400	Enhancers	Primary hematopoietic stem cells	blood
5	chr12:117548400-117550800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:117549200-117550200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:117549200-117550200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:117549200-117550200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:117549200-117550200	Enhancers	Fetal Muscle Leg	muscle
10	chr12:117549200-117550200	Bivalent Enhancer	Fetal Stomach	stomach
11	chr12:117549200-117550400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:117549200-117550400	Enhancers	Fetal Lung	lung
13	chr12:117549200-117550400	Enhancers	Thymus	Thymus
14	chr12:117549200-117550600	Enhancers	Fetal Thymus	thymus
15	chr12:117549400-117550200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:117549400-117550200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:117549400-117550200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:117549400-117550200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:117549400-117550200	Enhancers	Fetal Brain Male	brain
20	chr12:117549400-117550200	Enhancers	K562	blood
21	chr12:117549400-117550400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr12:117549400-117550600	Enhancers	Dnd41	blood
23	chr12:117549600-117550200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
24	chr12:117549800-117550200	Enhancers	Fetal Kidney	kidney
25	chr12:117550000-117550200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:117550000-117550600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr12:117550000-117550800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:117550000-117551200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:117550000-117551200	Bivalent Enhancer	HepG2	liver
30	chr12:117550000-117551400	Weak transcription	Pancreas	Pancrea
31	chr12:117550000-117552600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:117550000-117556200	Weak transcription	H1 Cell Line	embryonic stem cell

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