Variant report

Variant	rs560089446
Chromosome Location	chr12:124247487-124247488
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	chr12:124238409..124242727-chr12:124245328..124248805,4	MCF-7	breast:
2	chr12:124239074..124241226-chr12:124246281..124247802,2	K562	blood:

Variant related genes	Relation type
ENSG00000185344	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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3389445	chr12:124245999-124247847	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124201800-124247800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:124203800-124248000	Strong transcription	Dnd41	blood
3	chr12:124239800-124249400	Weak transcription	Brain Substantia Nigra	brain
4	chr12:124239800-124252000	Weak transcription	K562	blood
5	chr12:124244800-124254800	Weak transcription	HSMMtube	muscle
6	chr12:124245800-124247800	Bivalent Enhancer	Fetal Brain Male	brain
7	chr12:124245800-124248000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:124246000-124247600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr12:124246000-124247600	Active TSS	Rectal Smooth Muscle	rectum
10	chr12:124246200-124247600	Active TSS	Fetal Kidney	kidney
11	chr12:124246200-124247800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr12:124246200-124247800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr12:124246200-124248200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr12:124246400-124247600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:124246400-124247600	Active TSS	Brain Anterior Caudate	brain
16	chr12:124246400-124248000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr12:124246800-124248000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr12:124246800-124248000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:124247000-124247600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr12:124247000-124247600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:124247000-124247600	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr12:124247000-124247600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:124247000-124247600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:124247000-124247600	Bivalent Enhancer	Fetal Lung	lung
25	chr12:124247000-124247600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr12:124247000-124247600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
27	chr12:124247000-124248000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr12:124247000-124248000	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr12:124247000-124248000	Enhancers	Lung	lung
30	chr12:124247000-124248000	Flanking Bivalent TSS/Enh	NHEK	skin
31	chr12:124247200-124247600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:124247200-124247600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr12:124247200-124247600	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr12:124247200-124247600	Enhancers	Liver	Liver
35	chr12:124247200-124247600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr12:124247200-124247600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr12:124247200-124247600	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr12:124247200-124247600	Bivalent Enhancer	Fetal Stomach	stomach
39	chr12:124247200-124247600	Flanking Active TSS	Spleen	Spleen
40	chr12:124247200-124247800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:124247200-124247800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr12:124247200-124248000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr12:124247200-124248000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
44	chr12:124247200-124248000	Enhancers	Gastric	stomach
45	chr12:124247200-124248000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
46	chr12:124247200-124248000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr12:124247200-124248000	Flanking Bivalent TSS/Enh	HepG2	liver
48	chr12:124247200-124248200	Bivalent Enhancer	Placenta	Placenta
49	chr12:124247200-124251600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:124247400-124247600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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