Variant report

Variant	rs564609566
Chromosome Location	chr12:123957639-123957640
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123956134..123958285-chr12:123959076..123962639,4	K562	blood:
2	chr12:123956129..123957645-chr12:123968525..123970339,2	K562	blood:
3	chr12:123955912..123957787-chr12:124014886..124016796,2	K562	blood:
4	chr12:123944654..123946936-chr12:123957621..123961049,4	K562	blood:
5	chr12:123871162..123873569-chr12:123956036..123957807,2	MCF-7	breast:
6	chr12:123876498..123879364-chr12:123956037..123958507,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183955	Chromatin interaction
ENSG00000188026	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	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
5	nsv1037260	chr12:123956749-124023069	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123943800-123958800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:123943800-123959600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:123943800-123959600	Weak transcription	Psoas Muscle	Psoas
4	chr12:123943800-123961200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:123944600-123995600	Weak transcription	Hela-S3	cervix
6	chr12:123944600-124012200	Strong transcription	Fetal Stomach	stomach
7	chr12:123944800-123964600	Weak transcription	Small Intestine	intestine
8	chr12:123945200-123959200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:123945800-123965600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:123946000-123965600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:123946200-123957800	Strong transcription	Fetal Muscle Leg	muscle
12	chr12:123946800-123959200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:123947200-123958600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:123947600-123971800	Strong transcription	Fetal Intestine Small	intestine
15	chr12:123948200-123962800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr12:123949000-123957800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:123949000-123966200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:123949000-123984400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:123950000-123963200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:123950400-123973000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:123950600-123958800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:123950600-123958800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:123950800-123961400	Weak transcription	Right Atrium	heart
24	chr12:123950800-124007600	Weak transcription	Colonic Mucosa	Colon
25	chr12:123953800-123968200	Weak transcription	GM12878-XiMat	blood
26	chr12:123954200-123957800	Strong transcription	Brain Hippocampus Middle	brain
27	chr12:123954200-123964600	Strong transcription	Fetal Lung	lung
28	chr12:123954200-123971000	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:123954400-123957800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:123954400-123957800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:123954400-123961200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr12:123954800-123957800	Strong transcription	Fetal Intestine Large	intestine
33	chr12:123954800-123957800	Strong transcription	HSMM	muscle
34	chr12:123955000-123957800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:123955200-123971000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:123955400-123957800	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr12:123955800-123957800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr12:123955800-123958000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:123955800-123958400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:123956000-123957800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:123956000-123957800	Strong transcription	Fetal Kidney	kidney
42	chr12:123956000-123965600	Strong transcription	Fetal Brain Female	brain
43	chr12:123956200-123957800	Strong transcription	NH-A	brain
44	chr12:123956600-123958600	Weak transcription	Fetal Heart	heart
45	chr12:123956600-123959200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:123956800-123957800	Strong transcription	A549	lung
47	chr12:123956800-123957800	Strong transcription	Osteobl	bone
48	chr12:123956800-123958000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:123956800-123959000	Weak transcription	Stomach Mucosa	stomach
50	chr12:123956800-123961200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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