Variant report

Variant	rs60223336
Chromosome Location	chr12:120550881-120550882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120548888..120559202-chr12:120724492..120734002,35	MCF-7	breast:
2	chr12:120520820..120522899-chr12:120549617..120551295,2	K562	blood:
3	chr12:120535439..120538373-chr12:120550744..120552253,2	K562	blood:
4	chr12:120537177..120551260-chr12:120551865..120557471,32	MCF-7	breast:
5	chr12:120549747..120553515-chr12:120703925..120705527,3	K562	blood:

Variant related genes	Relation type
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000111737	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1054631	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16949854	1.00[ASN][1000 genomes]
rs16949862	1.00[ASN][1000 genomes]
rs16949870	1.00[ASN][1000 genomes]
rs16949914	1.00[ASN][1000 genomes]
rs2286041	1.00[ASN][1000 genomes]
rs28613380	1.00[ASN][1000 genomes]
rs56152568	0.94[ASN][1000 genomes]
rs56939014	0.88[ASN][1000 genomes]
rs57155388	1.00[ASN][1000 genomes]
rs57339959	1.00[ASN][1000 genomes]
rs57458743	1.00[ASN][1000 genomes]
rs59868595	1.00[ASN][1000 genomes]
rs60106911	1.00[ASN][1000 genomes]
rs60590470	0.88[ASN][1000 genomes]
rs61514727	1.00[ASN][1000 genomes]
rs6490279	0.88[ASN][1000 genomes]
rs6490282	1.00[ASN][1000 genomes]
rs7132099	0.89[ASN][1000 genomes]
rs7139151	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294975	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7297564	1.00[ASN][1000 genomes]
rs7298081	1.00[ASN][1000 genomes]
rs7304560	1.00[ASN][1000 genomes]
rs73410873	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7956221	1.00[ASN][1000 genomes]
rs9651912	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 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	chr12:120525600-120551800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:120525800-120553400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:120533800-120553000	Weak transcription	Fetal Kidney	kidney
4	chr12:120534400-120553200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:120539200-120552600	Weak transcription	Fetal Brain Male	brain
6	chr12:120539600-120551600	Weak transcription	Fetal Lung	lung
7	chr12:120539600-120552200	Strong transcription	Fetal Stomach	stomach
8	chr12:120540000-120553000	Weak transcription	HSMMtube	muscle
9	chr12:120541600-120551000	Weak transcription	HSMM	muscle
10	chr12:120541800-120552600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:120541800-120552800	Weak transcription	Brain Substantia Nigra	brain
12	chr12:120541800-120552800	Weak transcription	NH-A	brain
13	chr12:120542200-120553000	Weak transcription	Aorta	Aorta
14	chr12:120542400-120552400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:120543000-120552800	Weak transcription	Osteobl	bone
16	chr12:120543400-120551600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:120543400-120552600	Weak transcription	Ovary	ovary
18	chr12:120543400-120553000	Weak transcription	Fetal Heart	heart
19	chr12:120543400-120553600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:120544000-120552800	Weak transcription	Colonic Mucosa	Colon
21	chr12:120544200-120552200	Weak transcription	Hela-S3	cervix
22	chr12:120544400-120552800	Weak transcription	NHDF-Ad	bronchial
23	chr12:120544400-120553200	Strong transcription	Fetal Intestine Small	intestine
24	chr12:120545400-120552800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:120546400-120552400	Weak transcription	HepG2	liver
26	chr12:120546400-120552800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr12:120546600-120551000	Weak transcription	NHLF	lung
28	chr12:120546600-120551800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:120546600-120552400	Weak transcription	Brain Angular Gyrus	brain
30	chr12:120546600-120552600	Weak transcription	HMEC	breast
31	chr12:120546600-120553200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:120546800-120551600	Weak transcription	NHEK	skin
33	chr12:120546800-120552200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:120546800-120552400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:120547000-120551200	Weak transcription	Fetal Intestine Large	intestine
36	chr12:120547000-120552200	Weak transcription	Esophagus	oesophagus
37	chr12:120547000-120552200	Weak transcription	Gastric	stomach
38	chr12:120547000-120552200	Weak transcription	Pancreas	Pancrea
39	chr12:120547000-120552600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:120547200-120551600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:120547400-120552000	Weak transcription	Brain Germinal Matrix	brain
42	chr12:120548000-120551200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:120548000-120552800	Weak transcription	Psoas Muscle	Psoas
44	chr12:120548400-120551000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:120548600-120551600	Weak transcription	Colon Smooth Muscle	Colon
46	chr12:120548600-120552800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:120548600-120553000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:120548800-120551200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:120548800-120551600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr12:120548800-120551600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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