Variant report

Variant	rs552183053
Chromosome Location	chr12:123920278-123920279
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123918432..123921016-chr12:123934034..123936294,2	K562	blood:
2	chr12:123866820..123869752-chr12:123919792..123923261,3	K562	blood:
3	chr12:123918384..123920794-chr12:123967775..123969543,2	K562	blood:
4	chr12:123919998..123924322-chr12:123941781..123944675,4	K562	blood:
5	chr12:123919731..123922838-chr12:123939726..123943639,4	MCF-7	breast:
6	chr12:123872355..123875545-chr12:123919640..123922793,3	MCF-7	breast:
7	chr12:123919342..123922431-chr12:123924734..123927863,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184209	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000270445	Chromatin interaction
ENSG00000188026	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123891200-123920400	Weak transcription	Psoas Muscle	Psoas
2	chr12:123894000-123920600	Weak transcription	HSMMtube	muscle
3	chr12:123912200-123920400	Weak transcription	Fetal Intestine Large	intestine
4	chr12:123916800-123920800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:123916800-123921000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr12:123916800-123921000	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr12:123917200-123920400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:123917200-123920800	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr12:123917200-123921800	Active TSS	Aorta	Aorta
10	chr12:123917600-123920400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr12:123918600-123921400	Active TSS	GM12878-XiMat	blood
12	chr12:123918800-123921600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:123919200-123921000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr12:123919400-123920400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:123919400-123920400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:123919400-123920600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr12:123919400-123920600	Active TSS	Colonic Mucosa	Colon
18	chr12:123919400-123920800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr12:123919600-123920600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:123919600-123920600	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr12:123919800-123920400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr12:123919800-123920400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:123919800-123920400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr12:123919800-123920400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:123919800-123920400	Flanking Active TSS	Brain Angular Gyrus	brain
26	chr12:123919800-123920400	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr12:123919800-123920600	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr12:123919800-123920600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr12:123919800-123920600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr12:123919800-123920600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:123919800-123920600	Flanking Active TSS	HUVEC	blood vessel
32	chr12:123919800-123920800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:123919800-123921000	Flanking Active TSS	Dnd41	blood
34	chr12:123919800-123921800	Active TSS	Fetal Kidney	kidney
35	chr12:123920000-123920400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:123920000-123920400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
37	chr12:123920000-123920400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr12:123920000-123920400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr12:123920000-123920400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:123920000-123920400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr12:123920000-123920400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr12:123920000-123920400	Enhancers	Fetal Stomach	stomach
43	chr12:123920000-123920400	Flanking Active TSS	Left Ventricle	heart
44	chr12:123920000-123920400	Flanking Active TSS	Lung	lung
45	chr12:123920000-123920400	Flanking Active TSS	Pancreas	Pancrea
46	chr12:123920000-123920400	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr12:123920000-123920400	Flanking Active TSS	Right Atrium	heart
48	chr12:123920000-123920400	Enhancers	Small Intestine	intestine
49	chr12:123920000-123920400	Flanking Active TSS	Spleen	Spleen
50	chr12:123920000-123920400	Flanking Active TSS	HepG2	liver

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