Variant report

Variant	rs183358804
Chromosome Location	chr12:56140394-56140395
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56139474..56141266-chr12:56187183..56189811,2	MCF-7	breast:
2	chr12:56118873..56123597-chr12:56135421..56141775,11	K562	blood:
3	chr12:56131110..56132920-chr12:56139527..56141888,2	K562	blood:
4	chr12:56135401..56138372-chr12:56138413..56141601,7	MCF-7	breast:
5	chr12:56112360..56117057-chr12:56137654..56141043,4	MCF-7	breast:
6	chr12:56136481..56142183-chr12:56210043..56213312,6	K562	blood:
7	chr12:56110287..56112074-chr12:56139458..56141706,2	K562	blood:
8	chr12:56139597..56141342-chr12:56182890..56184805,2	MCF-7	breast:
9	chr12:56117197..56125255-chr12:56135299..56142277,21	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135437	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000258311	Chromatin interaction
ENSG00000135404	Chromatin interaction
ENSG00000135441	Chromatin interaction
ENSG00000258056	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000123353	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56136600-56140600	Active TSS	Fetal Kidney	kidney
2	chr12:56137600-56140400	Enhancers	Fetal Brain Male	brain
3	chr12:56137800-56140800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:56138000-56144800	Weak transcription	Liver	Liver
5	chr12:56138000-56144800	Weak transcription	Lung	lung
6	chr12:56138000-56145000	Weak transcription	Gastric	stomach
7	chr12:56138200-56142400	Weak transcription	Aorta	Aorta
8	chr12:56138200-56145200	Weak transcription	Esophagus	oesophagus
9	chr12:56138200-56150800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:56138400-56140600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:56138400-56140800	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:56138400-56140800	Enhancers	NHDF-Ad	bronchial
13	chr12:56138400-56145000	Weak transcription	Pancreas	Pancrea
14	chr12:56138400-56145400	Weak transcription	NHEK	skin
15	chr12:56138800-56140400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr12:56138800-56140400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr12:56138800-56145000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:56138800-56145000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:56138800-56146200	Weak transcription	Small Intestine	intestine
20	chr12:56139000-56140400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr12:56139000-56140600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr12:56139000-56143000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:56139200-56140400	Enhancers	Fetal Intestine Small	intestine
24	chr12:56139200-56140400	Enhancers	Fetal Muscle Leg	muscle
25	chr12:56139200-56142200	Weak transcription	Spleen	Spleen
26	chr12:56139200-56142400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:56139200-56142400	Weak transcription	Hela-S3	cervix
28	chr12:56139200-56142600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:56139200-56143400	Weak transcription	HSMMtube	muscle
30	chr12:56139200-56144400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:56139200-56144600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:56139200-56144600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:56139200-56144600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:56139200-56145000	Weak transcription	Adipose Nuclei	Adipose
35	chr12:56139200-56145200	Weak transcription	HUVEC	blood vessel
36	chr12:56139200-56145400	Weak transcription	HMEC	breast
37	chr12:56139200-56149000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:56139400-56140400	Enhancers	Brain Angular Gyrus	brain
39	chr12:56139400-56140400	Enhancers	Fetal Stomach	stomach
40	chr12:56139400-56140400	Enhancers	Dnd41	blood
41	chr12:56139400-56140400	Enhancers	HepG2	liver
42	chr12:56139400-56140400	Enhancers	NH-A	brain
43	chr12:56139400-56140600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:56139400-56140600	Enhancers	Fetal Thymus	thymus
45	chr12:56139400-56140800	Enhancers	Brain Hippocampus Middle	brain
46	chr12:56139400-56140800	Enhancers	Fetal Lung	lung
47	chr12:56139400-56141000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:56139400-56141400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:56139400-56141800	Weak transcription	Fetal Intestine Large	intestine
50	chr12:56139400-56141800	Weak transcription	Stomach Smooth Muscle	stomach

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