Variant report

Variant	rs56279058
Chromosome Location	chr12:12697462-12697463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12684001..12705444-chr12:12707828..12718639,50	MCF-7	breast:
2	chr12:12697050..12698785-chr12:12714833..12716597,2	K562	blood:
3	chr12:12694706..12697584-chr12:12711019..12715341,3	K562	blood:
4	chr12:12690631..12694547-chr12:12695953..12699425,4	K562	blood:
5	chr12:12696789..12699753-chr12:12738995..12741506,2	MCF-7	breast:
6	chr12:12697218..12699363-chr12:12734205..12735710,2	MCF-7	breast:
7	chr12:12697176..12699542-chr12:12700595..12704557,5	K562	blood:

Variant related genes	Relation type
ENSG00000111266	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11830917	0.94[ASN][1000 genomes]
rs16908222	1.00[ASN][1000 genomes]
rs4237940	0.87[ASN][1000 genomes]
rs4763837	1.00[ASN][1000 genomes]
rs4763838	1.00[ASN][1000 genomes]
rs55946424	1.00[ASN][1000 genomes]
rs58443254	1.00[ASN][1000 genomes]
rs60909736	1.00[ASN][1000 genomes]
rs73063452	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73063453	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv898811	chr12:12655443-12928295	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12686600-12701000	Weak transcription	HSMM	muscle
2	chr12:12686600-12703200	Weak transcription	NH-A	brain
3	chr12:12686600-12708000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:12686600-12711400	Weak transcription	Esophagus	oesophagus
5	chr12:12686800-12712200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:12686800-12712600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:12687200-12698400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:12687200-12708000	Weak transcription	Right Ventricle	heart
9	chr12:12687200-12711600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:12687200-12712600	Weak transcription	Aorta	Aorta
11	chr12:12687400-12706400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:12687400-12708000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:12687400-12708000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:12687400-12710600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:12687400-12712600	Weak transcription	K562	blood
16	chr12:12688200-12710800	Weak transcription	Pancreas	Pancrea
17	chr12:12688200-12714400	Weak transcription	Gastric	stomach
18	chr12:12689600-12708000	Weak transcription	Ovary	ovary
19	chr12:12690600-12712600	Weak transcription	NHLF	lung
20	chr12:12690800-12710400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:12691800-12700800	Weak transcription	Psoas Muscle	Psoas
22	chr12:12692000-12700600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:12692000-12713000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:12692400-12700600	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:12692400-12713600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:12692600-12701800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:12692600-12702200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:12692600-12702200	Weak transcription	Brain Substantia Nigra	brain
29	chr12:12692600-12708000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:12692600-12708000	Weak transcription	Small Intestine	intestine
31	chr12:12693000-12700600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:12693200-12702000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:12693600-12697800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:12693800-12700800	Weak transcription	Stomach Mucosa	stomach
35	chr12:12693800-12701200	Weak transcription	Lung	lung
36	chr12:12694000-12705200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:12694200-12699400	Weak transcription	Fetal Intestine Large	intestine
38	chr12:12694200-12701800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:12694200-12703000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:12694200-12708000	Weak transcription	Left Ventricle	heart
41	chr12:12694200-12712800	Weak transcription	Adipose Nuclei	Adipose
42	chr12:12694400-12700600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:12694400-12700600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:12694400-12700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:12694400-12700600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:12694400-12700800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:12694400-12708000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr12:12694400-12712800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr12:12694400-12712800	Weak transcription	Fetal Stomach	stomach
50	chr12:12694600-12699200	Weak transcription	Fetal Heart	heart

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