Variant report

Variant	rs563141596
Chromosome Location	chr12:51591861-51591862
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51590050..51592096-chr12:51600064..51602157,2	MCF-7	breast:
2	chr12:51475955..51479039-chr12:51590902..51594960,4	K562	blood:

Variant related genes	Relation type
ENSG00000184271	Chromatin interaction
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv558876	chr12:51591367-51612730	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51567400-51610600	Weak transcription	Right Atrium	heart
2	chr12:51578200-51596800	Weak transcription	Fetal Lung	lung
3	chr12:51580400-51592000	Weak transcription	Gastric	stomach
4	chr12:51580600-51595800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:51580800-51596800	Weak transcription	Primary T cells from cord blood	blood
6	chr12:51581000-51593200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:51581400-51600400	Weak transcription	Psoas Muscle	Psoas
8	chr12:51581400-51610200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:51581800-51592000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:51581800-51596600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:51581800-51610600	Weak transcription	Colonic Mucosa	Colon
12	chr12:51582000-51592600	Weak transcription	Fetal Intestine Large	intestine
13	chr12:51582000-51597000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:51582200-51593000	Strong transcription	Brain Hippocampus Middle	brain
15	chr12:51582200-51594000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:51582200-51608000	Weak transcription	NHLF	lung
17	chr12:51582400-51593000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:51582400-51594800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:51582400-51600000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:51582400-51600600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:51583400-51594200	Strong transcription	Fetal Stomach	stomach
22	chr12:51583400-51602400	Weak transcription	Fetal Brain Male	brain
23	chr12:51583600-51598400	Weak transcription	Osteobl	bone
24	chr12:51584000-51597000	Weak transcription	Left Ventricle	heart
25	chr12:51584400-51610800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:51584600-51594600	Strong transcription	Fetal Muscle Leg	muscle
27	chr12:51584600-51596600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:51585000-51610200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:51585000-51610800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:51585400-51592400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:51585400-51610200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:51585800-51596600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:51585800-51596800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:51585800-51601400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:51585800-51610400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr12:51586000-51610200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr12:51586200-51592600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:51586200-51594000	Weak transcription	Liver	Liver
39	chr12:51586400-51610200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:51587200-51596400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:51588200-51595000	Strong transcription	Brain Germinal Matrix	brain
42	chr12:51588400-51592400	Strong transcription	Brain Anterior Caudate	brain
43	chr12:51588400-51594200	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:51588600-51592200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:51588600-51594000	Strong transcription	Brain Cingulate Gyrus	brain
46	chr12:51588800-51592000	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr12:51588800-51592200	Strong transcription	Ovary	ovary
48	chr12:51588800-51595000	Strong transcription	Fetal Brain Female	brain
49	chr12:51589000-51594200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr12:51590000-51592200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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