Variant report

Variant	rs11124315
Chromosome Location	chr2:33638059-33638060
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33637672..33638650-chr2:33808099..33808930,3	K562	blood:
2	chr2:33637696..33638457-chr2:33700688..33701361,2	MCF-7	breast:
3	chr2:33630522..33632316-chr2:33637105..33638898,2	K562	blood:

Variant related genes	Relation type
ENSG00000152689	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17012979	1.00[AMR][1000 genomes]
rs17012990	1.00[AMR][1000 genomes]
rs60715050	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33629600-33641800	Weak transcription	Right Atrium	heart
2	chr2:33631200-33640200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:33634000-33645000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:33636400-33638600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:33636800-33638200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:33636800-33638200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:33636800-33638200	Enhancers	NHDF-Ad	bronchial
8	chr2:33636800-33638200	Enhancers	Osteobl	bone
9	chr2:33636800-33638400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:33637000-33638200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:33637000-33638200	Enhancers	HSMM	muscle
12	chr2:33637200-33638200	Enhancers	HSMMtube	muscle
13	chr2:33637200-33641600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:33637400-33642000	Weak transcription	NH-A	brain
15	chr2:33637600-33638600	Enhancers	A549	lung
16	chr2:33637600-33645000	Weak transcription	NHLF	lung
17	chr2:33637800-33638200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:33637800-33645000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:33638000-33638200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:33638000-33638400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:33638000-33638600	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:33638000-33638600	Enhancers	HUVEC	blood vessel

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