Variant report

Variant	rs12316263
Chromosome Location	chr12:123242877-123242878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123240856..123246035-chr12:123255741..123259598,6	MCF-7	breast:
2	chr12:123078659..123081368-chr12:123242413..123244541,2	K562	blood:
3	chr12:123235308..123239495-chr12:123239510..123247125,14	MCF-7	breast:
4	chr12:123242267..123244530-chr12:123248706..123250790,2	MCF-7	breast:
5	chr12:123120971..123123822-chr12:123241913..123244089,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139726	Chromatin interaction
ENSG00000130783	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10466883	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10466884	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11059711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11059724	0.94[ASN][1000 genomes]
rs11059834	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11059932	0.92[ASN][1000 genomes]
rs11059953	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11059954	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12298293	0.82[ASN][1000 genomes]
rs12302287	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12303150	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12303270	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12303951	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12305822	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12307038	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12310386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310901	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12312837	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12313538	0.82[ASN][1000 genomes]
rs12313600	0.82[ASN][1000 genomes]
rs12315520	0.82[ASN][1000 genomes]
rs12318871	0.82[ASN][1000 genomes]
rs12319160	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12321100	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12321556	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1260120	0.92[ASN][1000 genomes]
rs1671679	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1671688	0.92[ASN][1000 genomes]
rs1696320	0.91[ASN][1000 genomes]
rs2253504	0.92[ASN][1000 genomes]
rs2649902	0.94[ASN][1000 genomes]
rs2936730	0.90[ASN][1000 genomes]
rs3817095	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57366988	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60469279	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61176973	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6489240	0.91[ASN][1000 genomes]
rs652533	0.93[ASN][1000 genomes]
rs701484	0.89[ASN][1000 genomes]
rs7138436	0.92[ASN][1000 genomes]
rs7311386	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7486414	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7966971	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs839363	0.91[ASN][1000 genomes]
rs9645762	0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123238200-123249400	Weak transcription	Aorta	Aorta
2	chr12:123238400-123243000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:123238400-123258000	Strong transcription	Fetal Muscle Trunk	muscle
4	chr12:123238600-123245200	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:123238600-123248400	Weak transcription	Right Ventricle	heart
6	chr12:123238600-123249000	Weak transcription	Fetal Heart	heart
7	chr12:123238600-123250800	Weak transcription	Stomach Mucosa	stomach
8	chr12:123238600-123255600	Strong transcription	Fetal Intestine Large	intestine
9	chr12:123238600-123255800	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr12:123238600-123258800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:123238800-123243200	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:123238800-123243400	Strong transcription	Brain Substantia Nigra	brain
13	chr12:123238800-123244000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:123238800-123244200	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:123238800-123244600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:123238800-123245000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:123238800-123245200	Strong transcription	Fetal Lung	lung
18	chr12:123238800-123245400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:123238800-123245400	Weak transcription	Esophagus	oesophagus
20	chr12:123238800-123245600	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr12:123238800-123245600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:123238800-123246000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr12:123238800-123246000	Weak transcription	Pancreas	Pancrea
24	chr12:123238800-123246200	Strong transcription	Brain Cingulate Gyrus	brain
25	chr12:123238800-123246400	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:123238800-123246600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:123238800-123255600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr12:123238800-123255600	Strong transcription	Fetal Muscle Leg	muscle
29	chr12:123238800-123255800	Strong transcription	Primary B cells from cord blood	blood
30	chr12:123238800-123255800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:123238800-123255800	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:123238800-123255800	Strong transcription	Liver	Liver
33	chr12:123238800-123256000	Strong transcription	NH-A	brain
34	chr12:123238800-123256200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:123238800-123256200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:123238800-123256200	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:123238800-123256200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:123238800-123256600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr12:123238800-123257400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:123238800-123257400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:123238800-123257600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:123238800-123257800	Strong transcription	Fetal Thymus	thymus
43	chr12:123238800-123257800	Strong transcription	Osteobl	bone
44	chr12:123238800-123258000	Strong transcription	Placenta	Placenta
45	chr12:123239000-123244400	Weak transcription	Colon Smooth Muscle	Colon
46	chr12:123239000-123245000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:123239000-123245200	Strong transcription	HSMM	muscle
48	chr12:123239000-123245600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
49	chr12:123239000-123246400	Strong transcription	Primary T cells from cord blood	blood
50	chr12:123239000-123252600	Strong transcription	NHDF-Ad	bronchial

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