Variant report

Variant	rs17037554
Chromosome Location	chr2:48921711-48921712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17037460	1.00[AMR][1000 genomes]
rs17037464	1.00[AMR][1000 genomes]
rs17037466	1.00[AMR][1000 genomes]
rs17037467	1.00[AMR][1000 genomes]
rs17037469	1.00[AMR][1000 genomes]
rs17037474	1.00[AMR][1000 genomes]
rs17037477	1.00[AMR][1000 genomes]
rs17037494	1.00[AMR][1000 genomes]
rs61754876	1.00[AMR][1000 genomes]
rs6545063	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010494	chr2:48767055-49027310	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv833992	chr2:48814223-48998037	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48918000-48926400	Weak transcription	Adipose Nuclei	Adipose
2	chr2:48919000-48922800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:48919000-48923400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:48919200-48923400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:48919400-48923000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:48919600-48922400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:48919600-48922600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:48919800-48926600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:48920000-48921800	Enhancers	Stomach Smooth Muscle	stomach
10	chr2:48920200-48926600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:48920400-48926600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:48920600-48921800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr2:48920600-48922000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:48920600-48922000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:48920600-48922000	Enhancers	NHLF	lung
16	chr2:48920800-48922000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:48920800-48922200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:48921000-48921800	Active TSS	NH-A	brain
19	chr2:48921000-48922000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:48921200-48922200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:48921200-48922200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr2:48921200-48922800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:48921200-48923200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:48921400-48921800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr2:48921400-48921800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr2:48921400-48921800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr2:48921400-48921800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:48921600-48921800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr2:48921600-48926400	Weak transcription	Osteobl	bone
30	chr2:48921600-48949600	Weak transcription	Ovary	ovary

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