Variant report

Variant	rs551917783
Chromosome Location	chr12:124247392-124247393
allele	C/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:105 , 50 per page) page: 1 2 3

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	chr12:124234200-124247400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:124239800-124249400	Weak transcription	Brain Substantia Nigra	brain
5	chr12:124239800-124252000	Weak transcription	K562	blood
6	chr12:124244800-124254800	Weak transcription	HSMMtube	muscle
7	chr12:124245800-124247800	Bivalent Enhancer	Fetal Brain Male	brain
8	chr12:124245800-124248000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:124246000-124247400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:124246000-124247600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr12:124246000-124247600	Active TSS	Rectal Smooth Muscle	rectum
12	chr12:124246200-124247400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:124246200-124247400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:124246200-124247600	Active TSS	Fetal Kidney	kidney
15	chr12:124246200-124247800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr12:124246200-124247800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:124246200-124248200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr12:124246400-124247400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:124246400-124247400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr12:124246400-124247400	Active TSS	Primary T cells from cord blood	blood
21	chr12:124246400-124247400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:124246400-124247400	Flanking Active TSS	Esophagus	oesophagus
23	chr12:124246400-124247400	Active TSS	Fetal Intestine Small	intestine
24	chr12:124246400-124247400	Flanking Active TSS	Pancreas	Pancrea
25	chr12:124246400-124247400	Flanking Active TSS	Right Atrium	heart
26	chr12:124246400-124247600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:124246400-124247600	Active TSS	Brain Anterior Caudate	brain
28	chr12:124246400-124248000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr12:124246600-124247400	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr12:124246600-124247400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:124246800-124247400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:124246800-124247400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:124246800-124247400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:124246800-124248000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr12:124246800-124248000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:124247000-124247400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:124247000-124247400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr12:124247000-124247400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
39	chr12:124247000-124247400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr12:124247000-124247400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr12:124247000-124247400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:124247000-124247400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
43	chr12:124247000-124247400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
44	chr12:124247000-124247400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
45	chr12:124247000-124247400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
46	chr12:124247000-124247400	Enhancers	Fetal Heart	heart
47	chr12:124247000-124247400	Flanking Active TSS	Fetal Thymus	thymus
48	chr12:124247000-124247400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr12:124247000-124247400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
50	chr12:124247000-124247400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach

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