Variant report

Variant	rs4759400
Chromosome Location	chr12:123407985-123407986
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	chr12:123406897..123409663-chr12:123410616..123413101,2	K562	blood:
2	chr12:123379288..123381742-chr12:123406969..123409333,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139722	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11060762	0.83[ASN][1000 genomes]
rs4759360	0.86[ASN][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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123395000-123408400	Weak transcription	Fetal Brain Female	brain
2	chr12:123401400-123417200	Weak transcription	Osteobl	bone
3	chr12:123401400-123425200	Weak transcription	Esophagus	oesophagus
4	chr12:123401400-123426000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:123402600-123408400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:123402600-123416400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:123402600-123429200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:123402800-123408400	Weak transcription	Brain Anterior Caudate	brain
9	chr12:123402800-123414000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:123402800-123414200	Weak transcription	Ovary	ovary
11	chr12:123402800-123414600	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:123402800-123415400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:123402800-123416400	Weak transcription	Brain Substantia Nigra	brain
14	chr12:123402800-123426600	Weak transcription	NHLF	lung
15	chr12:123402800-123429200	Weak transcription	Gastric	stomach
16	chr12:123402800-123430800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:123403000-123408200	Weak transcription	Right Atrium	heart
18	chr12:123403000-123408400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:123403000-123409200	Weak transcription	Brain Germinal Matrix	brain
20	chr12:123403000-123410600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:123403000-123413800	Weak transcription	Pancreas	Pancrea
22	chr12:123403000-123414200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:123403000-123414200	Weak transcription	Brain Angular Gyrus	brain
24	chr12:123403000-123414400	Weak transcription	Right Ventricle	heart
25	chr12:123403000-123416600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:123403000-123426400	Weak transcription	Left Ventricle	heart
27	chr12:123403000-123428800	Weak transcription	Lung	lung
28	chr12:123403000-123444200	Weak transcription	Aorta	Aorta
29	chr12:123403400-123414200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:123403400-123427000	Weak transcription	A549	lung
31	chr12:123403600-123408600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:123403600-123413200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:123404400-123411200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:123405000-123409200	Weak transcription	Placenta	Placenta
35	chr12:123405000-123410400	Weak transcription	Hela-S3	cervix
36	chr12:123405000-123410400	Weak transcription	K562	blood
37	chr12:123405200-123416800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:123405200-123424800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:123405200-123428600	Weak transcription	NHEK	skin
40	chr12:123405400-123414000	Weak transcription	Fetal Intestine Small	intestine
41	chr12:123405800-123408800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:123406600-123410200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:123406800-123412000	Weak transcription	Fetal Muscle Leg	muscle
44	chr12:123406800-123414200	Weak transcription	Fetal Stomach	stomach
45	chr12:123406800-123415200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:123406800-123417000	Weak transcription	Fetal Lung	lung
47	chr12:123406800-123419800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:123406800-123426600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:123407200-123408600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:123407200-123412000	Weak transcription	Fetal Muscle Trunk	muscle

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