Variant report

Variant	rs572091714
Chromosome Location	chr12:48336063-48336064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
2	chr12:48336001..48336747-chr12:48558620..48559352,3	K562	blood:
3	chr12:48297838..48300182-chr12:48335522..48337383,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction

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	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv3423120	chr12:48335210-48338058	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48328400-48337800	Enhancers	Fetal Heart	heart
2	chr12:48332600-48339600	Weak transcription	NHDF-Ad	bronchial
3	chr12:48332800-48337400	Weak transcription	HMEC	breast
4	chr12:48332800-48337400	Weak transcription	NHEK	skin
5	chr12:48332800-48340200	Weak transcription	Right Atrium	heart
6	chr12:48333000-48339200	Weak transcription	HSMM	muscle
7	chr12:48333600-48336200	Weak transcription	Small Intestine	intestine
8	chr12:48333800-48337000	Weak transcription	Hela-S3	cervix
9	chr12:48334000-48336800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:48334200-48336600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:48334400-48336400	Weak transcription	Colonic Mucosa	Colon
12	chr12:48335000-48336400	Enhancers	Duodenum Mucosa	Duodenum
13	chr12:48335000-48337000	Bivalent Enhancer	Fetal Stomach	stomach
14	chr12:48335200-48336200	Enhancers	HSMMtube	muscle
15	chr12:48335200-48336600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:48335200-48337000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:48335200-48337000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr12:48335200-48337600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr12:48335400-48336200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:48335400-48336200	Bivalent Enhancer	Fetal Thymus	thymus
21	chr12:48335600-48336200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr12:48335600-48337000	Enhancers	Placenta	Placenta
23	chr12:48335800-48336200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr12:48335800-48336200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:48335800-48336200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr12:48335800-48336200	Bivalent Enhancer	Adipose Nuclei	Adipose
27	chr12:48335800-48336200	Bivalent Enhancer	Fetal Intestine Large	intestine
28	chr12:48335800-48336600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:48335800-48336600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr12:48335800-48336600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr12:48335800-48336600	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr12:48335800-48336600	Enhancers	Right Ventricle	heart
33	chr12:48335800-48337000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:48335800-48338200	Enhancers	Spleen	Spleen
35	chr12:48335800-48346000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr12:48336000-48336200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
37	chr12:48336000-48336200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:48336000-48336200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:48336000-48336200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr12:48336000-48336200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr12:48336000-48336200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:48336000-48336200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:48336000-48336200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
44	chr12:48336000-48336200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
45	chr12:48336000-48336200	Flanking Active TSS	Fetal Intestine Small	intestine
46	chr12:48336000-48336200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
47	chr12:48336000-48336400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:48336000-48336400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:48336000-48336400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:48336000-48336600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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