Variant report

Variant	rs117801578
Chromosome Location	chr12:123532260-123532261
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	chr12:123517295..123520100-chr12:123529608..123532443,2	K562	blood:

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
4	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
5	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
6	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv560494	chr12:123478378-123560731	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123504400-123540200	Weak transcription	Hela-S3	cervix
2	chr12:123518200-123535600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:123518400-123533600	Weak transcription	Aorta	Aorta
4	chr12:123518800-123540600	Weak transcription	HepG2	liver
5	chr12:123519000-123540400	Weak transcription	Gastric	stomach
6	chr12:123519000-123543400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:123528200-123542400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:123528400-123534000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:123528600-123534000	Weak transcription	Fetal Brain Female	brain
10	chr12:123528600-123534000	Weak transcription	Pancreas	Pancrea
11	chr12:123528600-123545800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:123528800-123533800	Weak transcription	HSMMtube	muscle
13	chr12:123528800-123535200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:123528800-123541400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:123529000-123533800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:123529000-123534200	Weak transcription	Osteobl	bone
17	chr12:123529000-123534800	Weak transcription	A549	lung
18	chr12:123529000-123535400	Weak transcription	Fetal Intestine Small	intestine
19	chr12:123529000-123540400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:123529200-123533800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:123529200-123533800	Weak transcription	NHDF-Ad	bronchial
22	chr12:123529200-123534000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:123529200-123534200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:123529200-123534400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:123529200-123534400	Weak transcription	NHLF	lung
26	chr12:123529200-123534600	Weak transcription	Adipose Nuclei	Adipose
27	chr12:123529400-123538800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:123529400-123544600	Weak transcription	Small Intestine	intestine
29	chr12:123529600-123533800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:123529600-123534000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:123529600-123546200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr12:123529800-123535000	Weak transcription	Spleen	Spleen
33	chr12:123529800-123537800	Genic enhancers	Fetal Thymus	thymus
34	chr12:123529800-123548200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:123530000-123534000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:123530200-123533800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:123530200-123538800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:123530400-123533200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:123530600-123533400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:123530600-123533600	Weak transcription	HSMM	muscle
41	chr12:123530600-123533800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:123530800-123533600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:123530800-123533800	Weak transcription	Fetal Muscle Leg	muscle
44	chr12:123530800-123533800	Weak transcription	Lung	lung
45	chr12:123530800-123533800	Weak transcription	Psoas Muscle	Psoas
46	chr12:123530800-123540600	Weak transcription	Colonic Mucosa	Colon
47	chr12:123530800-123544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:123531000-123532800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:123531000-123533400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:123531000-123533600	Weak transcription	Brain Cingulate Gyrus	brain

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