Variant report

Variant	rs60761837
Chromosome Location	chr12:123600425-123600426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:123597677..123600543-chr12:123624922..123626506,2	K562	blood:
2	chr12:123594098..123598804-chr12:123600213..123604964,5	K562	blood:
3	chr12:123597462..123600001-chr12:123600120..123602268,2	MCF-7	breast:
4	chr12:123598890..123601650-chr12:123601866..123605162,4	K562	blood:
5	chr12:123600130..123602126-chr12:123634112..123635880,2	MCF-7	breast:
6	chr12:123574271..123575945-chr12:123599295..123601794,2	MCF-7	breast:
7	chr12:123599616..123601650-chr12:123601866..123604392,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11061578	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12229712	0.94[AFR][1000 genomes]
rs55796417	0.83[AFR][1000 genomes]
rs55830208	0.83[AFR][1000 genomes]
rs55992397	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56020503	0.83[AFR][1000 genomes]
rs56140750	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56725866	0.83[AFR][1000 genomes]
rs57106451	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57178349	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57641050	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57719471	1.00[AMR][1000 genomes]
rs57764857	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57794792	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58339539	0.85[AMR][1000 genomes]
rs59615440	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59881907	1.00[AMR][1000 genomes]
rs60341839	0.83[AFR][1000 genomes]
rs60341983	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60358140	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60546720	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60809882	0.83[AFR][1000 genomes]
rs61377358	0.83[AFR][1000 genomes]
rs61516893	0.83[AFR][1000 genomes]
rs7302112	1.00[AMR][1000 genomes]
rs73411057	0.83[AFR][1000 genomes]
rs73411058	0.83[AFR][1000 genomes]
rs73411063	0.83[AFR][1000 genomes]
rs73411076	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411084	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411087	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411088	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411090	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411093	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411098	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73413226	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413228	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413230	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413236	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413241	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413246	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413263	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413265	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413270	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417317	0.85[AMR][1000 genomes]
rs73417324	0.85[AMR][1000 genomes]
rs752164	0.83[AFR][1000 genomes]
rs7952760	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7964036	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123561600-123604000	Genic enhancers	Fetal Thymus	thymus
2	chr12:123590000-123603800	Enhancers	Left Ventricle	heart
3	chr12:123592200-123601000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:123592400-123601000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:123592800-123611200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:123594000-123602200	Enhancers	Brain Cingulate Gyrus	brain
7	chr12:123594600-123607200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:123594600-123634000	Weak transcription	Brain Germinal Matrix	brain
9	chr12:123595200-123610800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:123595600-123601200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:123596600-123604800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:123597400-123608200	Enhancers	Primary B cells from peripheral blood	blood
13	chr12:123597800-123601600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr12:123597800-123602000	Enhancers	Brain Angular Gyrus	brain
15	chr12:123597800-123602600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr12:123597800-123610800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:123598000-123601200	Enhancers	Brain Hippocampus Middle	brain
18	chr12:123598000-123603400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:123598000-123608400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:123598200-123604800	Enhancers	Primary T cells from cord blood	blood
21	chr12:123598400-123600600	Enhancers	HUVEC	blood vessel
22	chr12:123598400-123601000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:123598600-123602000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr12:123598600-123602000	Enhancers	Right Atrium	heart
25	chr12:123598600-123606400	Weak transcription	HepG2	liver
26	chr12:123598800-123600600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:123598800-123600800	Enhancers	Fetal Muscle Leg	muscle
28	chr12:123598800-123600800	Enhancers	NHEK	skin
29	chr12:123598800-123601000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr12:123598800-123601400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr12:123598800-123601400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:123598800-123601400	Enhancers	Fetal Stomach	stomach
33	chr12:123598800-123601400	Enhancers	Psoas Muscle	Psoas
34	chr12:123598800-123601800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr12:123598800-123602800	Enhancers	Primary T cells fromperipheralblood	blood
36	chr12:123598800-123603600	Enhancers	Right Ventricle	heart
37	chr12:123598800-123603800	Enhancers	Ovary	ovary
38	chr12:123598800-123605000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr12:123599000-123600600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:123599000-123600600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:123599000-123600600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:123599000-123600800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:123599000-123600800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:123599000-123600800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:123599000-123600800	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr12:123599000-123600800	Enhancers	Hela-S3	cervix
47	chr12:123599000-123601000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr12:123599000-123601000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:123599000-123601000	Enhancers	Esophagus	oesophagus
50	chr12:123599000-123601000	Enhancers	Pancreas	Pancrea

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