Variant report

Variant	rs117839207
Chromosome Location	chr12:56139162-56139163
allele	A/C
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56118873..56123597-chr12:56135421..56141775,11	K562	blood:
2	chr12:56137010..56139176-chr12:56366479..56369419,2	MCF-7	breast:
3	chr12:56137714..56140365-chr12:56357823..56359746,2	K562	blood:
4	chr12:56137294..56139429-chr12:56377696..56379845,2	K562	blood:
5	chr12:56135540..56139368-chr12:56208041..56213329,11	MCF-7	breast:
6	chr12:56135401..56138372-chr12:56138413..56141601,7	MCF-7	breast:
7	chr12:56112360..56117057-chr12:56137654..56141043,4	MCF-7	breast:
8	chr12:56136330..56139191-chr12:56511663..56513514,2	K562	blood:
9	chr12:56136481..56142183-chr12:56210043..56213312,6	K562	blood:
10	chr12:56107652..56112121-chr12:56134921..56139203,6	MCF-7	breast:
11	chr12:56135076..56139517-chr12:56332723..56335701,7	K562	blood:
12	chr12:56135568..56140230-chr12:56496911..56501047,5	K562	blood:
13	chr12:56126916..56129373-chr12:56137804..56139318,2	K562	blood:
14	chr12:56117197..56125255-chr12:56135299..56142277,21	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185664	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000135441	Chromatin interaction
ENSG00000135424	Chromatin interaction
ENSG00000258311	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000258056	Chromatin interaction
ENSG00000135437	Chromatin interaction
ENSG00000135404	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000111540	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000170515	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	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv469410	chr12:56098038-56170893	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv559004	chr12:56098038-56170893	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	esv3418952	chr12:56138685-56140933	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
5	esv3403829	chr12:56139035-56140433	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56136200-56139800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:56136400-56140200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr12:56136600-56139200	Active TSS	Rectal Smooth Muscle	rectum
4	chr12:56136600-56139800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:56136600-56140000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:56136600-56140000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr12:56136600-56140200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:56136600-56140600	Active TSS	Fetal Kidney	kidney
9	chr12:56137200-56139200	Flanking Active TSS	Fetal Muscle Leg	muscle
10	chr12:56137200-56140000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:56137400-56139200	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr12:56137400-56139400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr12:56137400-56139400	Flanking Active TSS	Fetal Brain Female	brain
14	chr12:56137400-56139400	Flanking Active TSS	Fetal Muscle Trunk	muscle
15	chr12:56137400-56139800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:56137400-56140000	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr12:56137600-56139400	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr12:56137600-56139400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:56137600-56139400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:56137600-56139400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr12:56137600-56139400	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr12:56137600-56140400	Enhancers	Fetal Brain Male	brain
23	chr12:56137800-56139200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:56137800-56139400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr12:56137800-56139400	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr12:56137800-56139400	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr12:56137800-56139400	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr12:56137800-56139400	Flanking Active TSS	Fetal Thymus	thymus
29	chr12:56137800-56139400	Flanking Active TSS	Dnd41	blood
30	chr12:56137800-56139400	Flanking Active TSS	GM12878-XiMat	blood
31	chr12:56137800-56139400	Flanking Active TSS	K562	blood
32	chr12:56137800-56139400	Flanking Active TSS	NH-A	brain
33	chr12:56137800-56139400	Flanking Active TSS	NHLF	lung
34	chr12:56137800-56140800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:56138000-56139400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:56138000-56139400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:56138000-56139400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:56138000-56139400	Enhancers	A549	lung
39	chr12:56138000-56140200	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr12:56138000-56144800	Weak transcription	Liver	Liver
41	chr12:56138000-56144800	Weak transcription	Lung	lung
42	chr12:56138000-56145000	Weak transcription	Gastric	stomach
43	chr12:56138200-56139200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:56138200-56139200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:56138200-56139200	Enhancers	Spleen	Spleen
46	chr12:56138200-56139400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:56138200-56140000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:56138200-56140000	Enhancers	Primary T cells fromperipheralblood	blood
49	chr12:56138200-56140000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:56138200-56142400	Weak transcription	Aorta	Aorta

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