Variant report

Variant	rs545219527
Chromosome Location	chr12:51610462-51610463
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51545382..51548232-chr12:51608906..51610842,2	K562	blood:
2	chr12:51441021..51443304-chr12:51610017..51612719,2	MCF-7	breast:
3	chr12:51475900..51479120-chr12:51609514..51613581,8	MCF-7	breast:
4	chr12:51475832..51478799-chr12:51610420..51612899,6	K562	blood:
5	chr12:51474677..51478892-chr12:51609953..51613954,8	K562	blood:
6	chr12:51474480..51479024-chr12:51609420..51613050,8	MCF-7	breast:
7	chr12:51610404..51614741-chr12:51616630..51621489,9	K562	blood:
8	chr12:51595711..51598749-chr12:51608220..51613018,6	K562	blood:
9	chr12:51610103..51612152-chr3:63848068..63850796,2	MCF-7	breast:
10	chr12:51609133..51616659-chr12:51628963..51635200,14	K562	blood:
11	chr12:51563450..51568971-chr12:51609008..51613972,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000050426	Chromatin interaction
ENSG00000163634	Chromatin interaction
ENSG00000163635	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000269339	Chromatin interaction
ENSG00000183283	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	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
3	esv3360919	chr12:51610110-51613058	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3439902	chr12:51610260-51612758	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51567400-51610600	Weak transcription	Right Atrium	heart
2	chr12:51581800-51610600	Weak transcription	Colonic Mucosa	Colon
3	chr12:51584400-51610800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:51585000-51610800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:51592400-51610600	Weak transcription	Pancreas	Pancrea
6	chr12:51592400-51610800	Weak transcription	Esophagus	oesophagus
7	chr12:51595200-51610800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:51597400-51611000	Weak transcription	Primary T cells from cord blood	blood
9	chr12:51598200-51610600	Weak transcription	Fetal Intestine Small	intestine
10	chr12:51598200-51610600	Weak transcription	Gastric	stomach
11	chr12:51599400-51610600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:51601600-51610600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:51602400-51610600	Weak transcription	Left Ventricle	heart
14	chr12:51604400-51610600	Weak transcription	Small Intestine	intestine
15	chr12:51604800-51610600	Weak transcription	Aorta	Aorta
16	chr12:51604800-51610600	Weak transcription	Lung	lung
17	chr12:51605000-51611000	Weak transcription	Spleen	Spleen
18	chr12:51605400-51610600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:51605600-51610600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:51605600-51610600	Weak transcription	Fetal Intestine Large	intestine
21	chr12:51605800-51610600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:51607000-51610600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:51608800-51610600	Weak transcription	Fetal Stomach	stomach
24	chr12:51610000-51610800	Flanking Active TSS	Fetal Brain Female	brain
25	chr12:51610200-51610600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:51610200-51610600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr12:51610200-51610600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr12:51610200-51610600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr12:51610200-51610600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:51610200-51610600	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr12:51610200-51610600	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr12:51610200-51610600	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr12:51610200-51610600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr12:51610200-51610600	Enhancers	Brain Substantia Nigra	brain
35	chr12:51610200-51610600	Enhancers	Fetal Brain Male	brain
36	chr12:51610200-51610600	Flanking Active TSS	NHDF-Ad	bronchial
37	chr12:51610200-51610800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:51610200-51610800	Enhancers	Primary B cells from peripheral blood	blood
39	chr12:51610200-51610800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:51610200-51610800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:51610200-51610800	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr12:51610200-51610800	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr12:51610200-51610800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr12:51610200-51610800	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr12:51610200-51610800	Flanking Active TSS	Osteobl	bone
46	chr12:51610200-51611000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:51610200-51611000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:51610200-51612200	Active TSS	H1 Cell Line	embryonic stem cell
49	chr12:51610200-51612200	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr12:51610200-51612200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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