Variant report

Variant	rs571206393
Chromosome Location	chr12:122383286-122383287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122367527..122369805-chr12:122380881..122383741,2	K562	blood:
2	chr12:122383104..122386002-chr12:122399746..122401502,2	K562	blood:
3	chr12:122325328..122328082-chr12:122382388..122384229,2	K562	blood:
4	chr12:122380214..122384084-chr12:122388242..122390688,3	K562	blood:

Variant related genes	Relation type
ENSG00000256950	Chromatin interaction
ENSG00000158023	Chromatin interaction
ENSG00000110801	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1799099	chr12:122382229-122398494	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122357000-122383600	Weak transcription	Primary T cells from cord blood	blood
2	chr12:122363000-122384800	Weak transcription	Psoas Muscle	Psoas
3	chr12:122363000-122393400	Weak transcription	Brain Angular Gyrus	brain
4	chr12:122363200-122384600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:122363600-122383600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:122363600-122383800	Weak transcription	Fetal Brain Male	brain
7	chr12:122363600-122385600	Weak transcription	Fetal Lung	lung
8	chr12:122363600-122392200	Weak transcription	Left Ventricle	heart
9	chr12:122363600-122398600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:122363600-122408000	Weak transcription	Right Ventricle	heart
11	chr12:122365600-122385800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:122365600-122393400	Weak transcription	Brain Substantia Nigra	brain
13	chr12:122365800-122390200	Weak transcription	HUVEC	blood vessel
14	chr12:122365800-122405000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:122370600-122387800	Weak transcription	NHDF-Ad	bronchial
16	chr12:122370600-122403200	Weak transcription	Fetal Kidney	kidney
17	chr12:122372200-122396400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:122372800-122393600	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:122374000-122402800	Weak transcription	HSMM	muscle
20	chr12:122374000-122405600	Weak transcription	Adipose Nuclei	Adipose
21	chr12:122375400-122401400	Weak transcription	Ovary	ovary
22	chr12:122375400-122402600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:122375600-122384000	Weak transcription	A549	lung
24	chr12:122375800-122384000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:122375800-122385800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:122375800-122393600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:122375800-122415800	Weak transcription	Liver	Liver
28	chr12:122376000-122388000	Weak transcription	NHLF	lung
29	chr12:122376000-122393400	Weak transcription	Brain Anterior Caudate	brain
30	chr12:122376000-122401600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:122376000-122413000	Weak transcription	Aorta	Aorta
32	chr12:122377400-122406200	Weak transcription	Thymus	Thymus
33	chr12:122378600-122384400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:122378800-122384200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:122380600-122384400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:122380600-122387800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:122380600-122401600	Weak transcription	Pancreas	Pancrea
38	chr12:122380800-122384000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:122380800-122384400	Weak transcription	Fetal Thymus	thymus
40	chr12:122380800-122385600	Weak transcription	NH-A	brain
41	chr12:122380800-122387200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:122380800-122405800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:122381000-122384000	Weak transcription	Gastric	stomach
44	chr12:122381000-122384400	Weak transcription	Fetal Stomach	stomach
45	chr12:122381000-122387400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:122381000-122387800	Weak transcription	HSMMtube	muscle
47	chr12:122381000-122396400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr12:122381000-122400000	Weak transcription	Spleen	Spleen
49	chr12:122381000-122405800	Weak transcription	Fetal Muscle Leg	muscle
50	chr12:122381200-122384400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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