Variant report

Variant	rs143658978
Chromosome Location	chr12:12512726-12512727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr12:12512495-12512814	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:12509167..12512867-chr12:12713185..12715471,5	MCF-7	breast:
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	chr12:12509044..12511145-chr12:12512603..12514183,2	MCF-7	breast:
6	chr12:12509330..12513233-chr12:12874960..12880946,8	K562	blood:
7	chr12:12508122..12513324-chr12:12871018..12878415,8	MCF-7	breast:

No data

Variant related genes	Relation type
LOH12CR2	TF binding region
ENSG00000205791	Chromatin interaction
ENSG00000111266	Chromatin interaction
ENSG00000178878	Chromatin interaction
ENSG00000165714	Chromatin interaction
ENSG00000111276	Chromatin interaction
ENSG00000256658	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:110 , 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	chr12:12511400-12512800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:12511400-12512800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr12:12511400-12513400	Enhancers	Primary B cells from peripheral blood	blood
13	chr12:12511400-12513600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:12511400-12515600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:12511400-12515800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:12511400-12518600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:12511400-12518600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:12511400-12518800	Weak transcription	Placenta	Placenta
19	chr12:12511400-12519000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:12511400-12519000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:12511400-12519000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:12511400-12519000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:12511400-12532600	Weak transcription	Fetal Lung	lung
24	chr12:12511400-12532800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:12511400-12535000	Weak transcription	Esophagus	oesophagus
26	chr12:12511400-12537800	Weak transcription	HSMMtube	muscle
27	chr12:12511400-12540600	Weak transcription	HSMM	muscle
28	chr12:12511600-12512800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:12511600-12512800	Enhancers	Brain Angular Gyrus	brain
30	chr12:12511600-12512800	Enhancers	Hela-S3	cervix
31	chr12:12511600-12513000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr12:12511600-12514200	Enhancers	Primary T cells fromperipheralblood	blood
33	chr12:12511600-12514400	Enhancers	Brain Cingulate Gyrus	brain
34	chr12:12511600-12515600	Weak transcription	Fetal Stomach	stomach
35	chr12:12511600-12516400	Weak transcription	Right Ventricle	heart
36	chr12:12511600-12517800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:12511600-12518000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:12511600-12518000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:12511600-12518000	Weak transcription	Aorta	Aorta
40	chr12:12511600-12518600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:12511600-12518800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:12511600-12518800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr12:12511600-12518800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:12511600-12519000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:12511600-12520200	Weak transcription	Adipose Nuclei	Adipose
46	chr12:12511600-12530200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:12511600-12532800	Weak transcription	Osteobl	bone
48	chr12:12511600-12540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:12511600-12550600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:12511800-12513400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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