Variant report

Variant	rs544223596
Chromosome Location	chr2:12153968-12153969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:12149476..12151758-chr2:12152643..12155527,2	K562	blood:
2	chr2:12146656..12149397-chr2:12152065..12154381,3	K562	blood:
3	chr2:12146656..12149397-chr2:12152065..12154039,2	K562	blood:

Variant related genes	Relation type
ENSG00000224184	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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv999704	chr2:12153766-12243960	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12147400-12154000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:12149200-12154000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:12149800-12154200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:12150000-12154000	Weak transcription	K562	blood
5	chr2:12150000-12154000	Weak transcription	Osteobl	bone
6	chr2:12150400-12154000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:12151800-12154000	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:12152800-12155000	Enhancers	GM12878-XiMat	blood
9	chr2:12153600-12155000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:12153600-12155000	Enhancers	Primary B cells from cord blood	blood
11	chr2:12153600-12155600	Enhancers	HSMM	muscle
12	chr2:12153800-12154200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr2:12153800-12154200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr2:12153800-12155000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:12153800-12155000	Enhancers	Primary B cells from peripheral blood	blood
16	chr2:12153800-12155000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:12153800-12155000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:12153800-12155200	Enhancers	NHDF-Ad	bronchial
19	chr2:12153800-12155200	Enhancers	NHLF	lung
20	chr2:12153800-12155400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:12153800-12155400	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links