Variant report

Variant	rs180942582
Chromosome Location	chr12:56976488-56976489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56972867..56975335-chr12:56976373..56981711,6	K562	blood:
2	chr12:56600398..56603165-chr12:56974127..56977078,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181852	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899106	chr12:56905558-57004668	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv526706	chr12:56961932-56988342	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1043992	chr12:56976326-57010458	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr12:56948600-56981200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:56953200-56981200	Weak transcription	Brain Substantia Nigra	brain
3	chr12:56954600-56993400	Weak transcription	Fetal Brain Male	brain
4	chr12:56959800-56981400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:56960000-56981000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:56960000-56981200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:56960000-56981200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:56960000-56981200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:56960000-56981200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:56960000-56987600	Weak transcription	Fetal Heart	heart
11	chr12:56960400-56981000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:56961600-56981200	Weak transcription	Brain Angular Gyrus	brain
13	chr12:56964000-56980600	Weak transcription	Brain Anterior Caudate	brain
14	chr12:56964000-56981200	Weak transcription	Liver	Liver
15	chr12:56964000-56987800	Weak transcription	Right Atrium	heart
16	chr12:56964200-56981200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:56964200-56992600	Weak transcription	Stomach Mucosa	stomach
18	chr12:56965200-56981200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:56965400-56983600	Strong transcription	Fetal Intestine Small	intestine
20	chr12:56965800-56981200	Weak transcription	Brain Germinal Matrix	brain
21	chr12:56966000-56978200	Strong transcription	Fetal Stomach	stomach
22	chr12:56966800-56976800	Weak transcription	Hela-S3	cervix
23	chr12:56968600-56981400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:56972200-56985000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:56972400-56982800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:56972800-56978200	Strong transcription	Adipose Nuclei	Adipose
27	chr12:56972800-56985400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:56973000-56976600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:56973400-56981200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:56973600-56977000	Strong transcription	Fetal Intestine Large	intestine
31	chr12:56973800-56990600	Weak transcription	Psoas Muscle	Psoas
32	chr12:56974200-56976600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr12:56974200-56976800	Enhancers	Primary hematopoietic stem cells	blood
34	chr12:56974200-56976800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:56974200-56976800	Strong transcription	Spleen	Spleen
36	chr12:56974200-56977200	Strong transcription	NHLF	lung
37	chr12:56974200-56977400	Strong transcription	Fetal Lung	lung
38	chr12:56974200-56977400	Strong transcription	Fetal Muscle Leg	muscle
39	chr12:56974200-56978200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:56974200-56978200	Strong transcription	Lung	lung
41	chr12:56974200-56978800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:56974400-56976600	Strong transcription	Placenta	Placenta
43	chr12:56974600-56977400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr12:56974600-56978000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr12:56974600-56978600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr12:56974600-56979000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:56974800-56976600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr12:56974800-56977000	Enhancers	Fetal Thymus	thymus
49	chr12:56974800-56977200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:56974800-56978000	Genic enhancers	NHEK	skin

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