Variant report

Variant	rs551688272
Chromosome Location	chr12:122230094-122230095
allele	C/T
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	chr12:122229858..122230791-chr9:130186123..130186701,2	Hela-S3	cervix:
2	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:
3	chr12:122229616..122230309-chr7:23145320..23146072,2	Hela-S3	cervix:
4	chr12:122229734..122230507-chr2:69664172..69665149,2	Hela-S3	cervix:
5	chr12:122149249..122152147-chr12:122229581..122233327,7	MCF-7	breast:
6	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:
7	chr12:122188669..122193873-chr12:122227176..122233304,8	MCF-7	breast:
8	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
9	chr12:120727170..120730056-chr12:122229573..122231675,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230658	Chromatin interaction
ENSG00000122550	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000196152	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000169599	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	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv984477	chr12:122226309-122271532	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
5	esv3513715	chr12:122229950-122230111	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122206400-122230600	Weak transcription	Brain Angular Gyrus	brain
2	chr12:122211600-122231200	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:122211800-122231600	Weak transcription	Brain Substantia Nigra	brain
4	chr12:122217800-122230400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:122219200-122230600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:122219200-122230600	Weak transcription	Fetal Brain Female	brain
7	chr12:122219600-122230800	Weak transcription	Brain Germinal Matrix	brain
8	chr12:122220400-122230400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:122220400-122230600	Weak transcription	Brain Anterior Caudate	brain
10	chr12:122220600-122230400	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:122220600-122230400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:122221200-122230600	Weak transcription	Right Atrium	heart
13	chr12:122223200-122231400	Weak transcription	HSMM	muscle
14	chr12:122224600-122231200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:122224800-122231000	Weak transcription	Osteobl	bone
16	chr12:122225200-122231400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:122225400-122231000	Weak transcription	Pancreas	Pancrea
18	chr12:122225600-122230400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:122225800-122233200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr12:122227200-122231600	Weak transcription	K562	blood
21	chr12:122227400-122232000	Active TSS	Rectal Smooth Muscle	rectum
22	chr12:122227600-122230400	Weak transcription	Small Intestine	intestine
23	chr12:122227800-122230200	Enhancers	Primary hematopoietic stem cells	blood
24	chr12:122227800-122230400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:122228200-122230600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:122228200-122230800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
27	chr12:122228400-122230200	Weak transcription	Liver	Liver
28	chr12:122228400-122230800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:122228400-122231000	Weak transcription	NH-A	brain
30	chr12:122228400-122231200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:122228600-122230200	Weak transcription	Lung	lung
32	chr12:122228600-122230400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:122228600-122230600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:122228600-122230600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:122228600-122230600	Weak transcription	Right Ventricle	heart
36	chr12:122228600-122230800	Weak transcription	Adipose Nuclei	Adipose
37	chr12:122228600-122232400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:122228800-122230200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:122228800-122230200	Active TSS	Colonic Mucosa	Colon
40	chr12:122228800-122230600	Weak transcription	Gastric	stomach
41	chr12:122229200-122230200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr12:122229200-122230200	Enhancers	Placenta	Placenta
43	chr12:122229200-122230400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:122229200-122230400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr12:122229200-122230600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr12:122229200-122230600	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr12:122229200-122230600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:122229200-122230800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr12:122229200-122230800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr12:122229200-122230800	Flanking Active TSS	GM12878-XiMat	blood

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