Variant report

Variant	rs184693057
Chromosome Location	chr12:12513183-12513184
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:12510093..12511651-chr12:12512844..12515772,2	K562	blood:
2	chr12:12505582..12507087-chr12:12510779..12513309,2	MCF-7	breast:
3	chr12:12508678..12514314-chr12:12868637..12874427,7	K562	blood:
4	chr12:12505451..12508886-chr12:12510975..12514166,3	K562	blood:
5	chr12:12509503..12512182-chr12:12513037..12516438,6	MCF-7	breast:
6	chr12:12509044..12511145-chr12:12512603..12514183,2	MCF-7	breast:
7	chr12:12509330..12513233-chr12:12874960..12880946,8	K562	blood:
8	chr12:12508122..12513324-chr12:12871018..12878415,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111276	Chromatin interaction
ENSG00000165714	Chromatin interaction
ENSG00000256658	Chromatin interaction
ENSG00000205791	Chromatin interaction
ENSG00000178878	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1036040	chr12:12506839-12541869	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1037542	chr12:12506839-12542868	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1045637	chr12:12506839-12546747	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv1812889	chr12:12510842-12593406	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv1052243	chr12:12512726-12541869	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12510800-12515800	Weak transcription	Lung	lung
2	chr12:12510800-12518000	Weak transcription	Gastric	stomach
3	chr12:12510800-12519800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:12510800-12527400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:12510800-12528200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:12511000-12515600	Weak transcription	Ovary	ovary
7	chr12:12511000-12520600	Weak transcription	Left Ventricle	heart
8	chr12:12511200-12522200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:12511200-12525800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:12511400-12513400	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:12511400-12513600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:12511400-12515600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:12511400-12515800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:12511400-12518600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:12511400-12518600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:12511400-12518800	Weak transcription	Placenta	Placenta
17	chr12:12511400-12519000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:12511400-12519000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:12511400-12519000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:12511400-12519000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:12511400-12532600	Weak transcription	Fetal Lung	lung
22	chr12:12511400-12532800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:12511400-12535000	Weak transcription	Esophagus	oesophagus
24	chr12:12511400-12537800	Weak transcription	HSMMtube	muscle
25	chr12:12511400-12540600	Weak transcription	HSMM	muscle
26	chr12:12511600-12514200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr12:12511600-12514400	Enhancers	Brain Cingulate Gyrus	brain
28	chr12:12511600-12515600	Weak transcription	Fetal Stomach	stomach
29	chr12:12511600-12516400	Weak transcription	Right Ventricle	heart
30	chr12:12511600-12517800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:12511600-12518000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:12511600-12518000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:12511600-12518000	Weak transcription	Aorta	Aorta
34	chr12:12511600-12518600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:12511600-12518800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:12511600-12518800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr12:12511600-12518800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:12511600-12519000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:12511600-12520200	Weak transcription	Adipose Nuclei	Adipose
40	chr12:12511600-12530200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:12511600-12532800	Weak transcription	Osteobl	bone
42	chr12:12511600-12540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:12511600-12550600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr12:12511800-12513400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr12:12511800-12514200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:12511800-12514200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr12:12511800-12514600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr12:12511800-12515800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:12511800-12516800	Weak transcription	A549	lung
50	chr12:12511800-12518000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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