Variant report

Variant	rs12308450
Chromosome Location	chr12:12710578-12710579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12710433..12719642-chr12:12755652..12767678,23	MCF-7	breast:
2	chr12:12709604..12712451-chr12:12849919..12851649,2	K562	blood:
3	chr12:12709465..12712162-chr12:122232078..122235026,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139725	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000111269	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10845573	0.90[AMR][1000 genomes]
rs11054960	0.93[AMR][1000 genomes]
rs11054961	0.93[AMR][1000 genomes]
rs11054965	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12309782	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12309848	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4421828	0.93[AMR][1000 genomes]
rs58968872	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7138733	0.93[AMR][1000 genomes]
rs7295113	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7309871	0.93[AMR][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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12686600-12711400	Weak transcription	Esophagus	oesophagus
2	chr12:12686800-12712200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:12686800-12712600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:12687200-12711600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:12687200-12712600	Weak transcription	Aorta	Aorta
6	chr12:12687400-12710600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:12687400-12712600	Weak transcription	K562	blood
8	chr12:12688200-12710800	Weak transcription	Pancreas	Pancrea
9	chr12:12688200-12714400	Weak transcription	Gastric	stomach
10	chr12:12690600-12712600	Weak transcription	NHLF	lung
11	chr12:12692000-12713000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:12692400-12713600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:12694200-12712800	Weak transcription	Adipose Nuclei	Adipose
14	chr12:12694400-12712800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:12694400-12712800	Weak transcription	Fetal Stomach	stomach
16	chr12:12694600-12710800	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:12694600-12711600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:12694600-12711600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:12694600-12712600	Weak transcription	Fetal Thymus	thymus
20	chr12:12694800-12710800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:12697600-12712600	Weak transcription	Thymus	Thymus
22	chr12:12698800-12712400	Weak transcription	NHEK	skin
23	chr12:12699000-12712600	Weak transcription	HUVEC	blood vessel
24	chr12:12699600-12712600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:12700000-12712000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:12700400-12712600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:12701000-12711000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:12701000-12711400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:12701200-12711600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:12701400-12710800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:12701400-12712600	Weak transcription	Fetal Lung	lung
32	chr12:12701400-12712800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:12701400-12713400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:12701400-12713600	Weak transcription	Lung	lung
35	chr12:12701800-12713800	Weak transcription	HSMM	muscle
36	chr12:12702800-12710800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:12703000-12712800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:12703600-12711600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:12703800-12713800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:12705600-12713000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:12706600-12714400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:12706800-12710800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:12706800-12712400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:12706800-12712600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:12707000-12713600	Weak transcription	Placenta	Placenta
46	chr12:12707800-12712600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:12708000-12710600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:12708200-12710600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr12:12708200-12712200	Weak transcription	Colon Smooth Muscle	Colon
50	chr12:12708400-12710600	Weak transcription	H1 Cell Line	embryonic stem cell

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