Variant report

Variant	rs4759360
Chromosome Location	chr12:123409705-123409706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123409186..123412265-chr12:123414114..123415906,3	K562	blood:
2	chr12:123409356..123412001-chr12:123418941..123421663,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10848076	0.81[ASN][1000 genomes]
rs11060762	0.98[ASN][1000 genomes]
rs3782289	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4148857	0.87[EUR][1000 genomes]
rs4148858	0.87[EUR][1000 genomes]
rs4148859	0.87[EUR][1000 genomes]
rs4759362	0.87[EUR][1000 genomes]
rs4759400	0.86[ASN][1000 genomes]
rs7298563	0.81[ASN][1000 genomes]
rs73230017	0.90[ASN][1000 genomes]
rs7398697	0.87[EUR][1000 genomes]
rs7967118	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised 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	47 gene(s)	inside rSNPs	diseases
4	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
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123401400-123417200	Weak transcription	Osteobl	bone
2	chr12:123401400-123425200	Weak transcription	Esophagus	oesophagus
3	chr12:123401400-123426000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:123402600-123416400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:123402600-123429200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:123402800-123414000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:123402800-123414200	Weak transcription	Ovary	ovary
8	chr12:123402800-123414600	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:123402800-123415400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:123402800-123416400	Weak transcription	Brain Substantia Nigra	brain
11	chr12:123402800-123426600	Weak transcription	NHLF	lung
12	chr12:123402800-123429200	Weak transcription	Gastric	stomach
13	chr12:123402800-123430800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:123403000-123410600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr12:123403000-123413800	Weak transcription	Pancreas	Pancrea
16	chr12:123403000-123414200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:123403000-123414200	Weak transcription	Brain Angular Gyrus	brain
18	chr12:123403000-123414400	Weak transcription	Right Ventricle	heart
19	chr12:123403000-123416600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:123403000-123426400	Weak transcription	Left Ventricle	heart
21	chr12:123403000-123428800	Weak transcription	Lung	lung
22	chr12:123403000-123444200	Weak transcription	Aorta	Aorta
23	chr12:123403400-123414200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:123403400-123427000	Weak transcription	A549	lung
25	chr12:123403600-123413200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:123404400-123411200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:123405000-123410400	Weak transcription	Hela-S3	cervix
28	chr12:123405000-123410400	Weak transcription	K562	blood
29	chr12:123405200-123416800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:123405200-123424800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:123405200-123428600	Weak transcription	NHEK	skin
32	chr12:123405400-123414000	Weak transcription	Fetal Intestine Small	intestine
33	chr12:123406600-123410200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr12:123406800-123412000	Weak transcription	Fetal Muscle Leg	muscle
35	chr12:123406800-123414200	Weak transcription	Fetal Stomach	stomach
36	chr12:123406800-123415200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:123406800-123417000	Weak transcription	Fetal Lung	lung
38	chr12:123406800-123419800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:123406800-123426600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:123407200-123412000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr12:123408400-123409800	Strong transcription	Fetal Brain Female	brain
42	chr12:123408400-123410400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:123408600-123410000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:123408600-123413800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:123408600-123414200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:123408800-123410000	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr12:123408800-123414200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:123409200-123410000	Strong transcription	Brain Germinal Matrix	brain
49	chr12:123409200-123410400	Enhancers	Placenta	Placenta
50	chr12:123409200-123412800	Enhancers	GM12878-XiMat	blood

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