Variant report

Variant	rs613232
Chromosome Location	chr1:211769893-211769894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211758328..211760166-chr1:211768188..211770174,2	K562	blood:
2	chr1:211764016..211768731-chr1:211768736..211774092,7	K562	blood:
3	chr1:211760606..211762712-chr1:211767556..211770438,2	K562	blood:
4	chr1:211769278..211771749-chr1:211790049..211793183,3	K562	blood:
5	chr1:211769278..211770974-chr1:211790049..211792905,2	K562	blood:
6	chr1:211769129..211771317-chr1:211772525..211775535,3	K562	blood:
7	chr1:211769453..211771427-chr1:211815206..211817109,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228792	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12751701	1.00[CHB][hapmap]
rs28707445	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs611386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6663436	1.00[CHB][hapmap]
rs749964	1.00[CHB][hapmap]

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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1796467	chr1:211726975-211769893	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840920	chr1:211726975-211769893	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211757400-211775200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:211764600-211770600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:211766000-211770400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:211766000-211772200	Weak transcription	Placenta	Placenta
5	chr1:211766200-211770800	Weak transcription	NHLF	lung
6	chr1:211766400-211770600	Weak transcription	NHDF-Ad	bronchial
7	chr1:211766800-211770000	Weak transcription	Osteobl	bone
8	chr1:211766800-211771400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:211768600-211771800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:211768600-211772400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:211769000-211770600	Enhancers	Liver	Liver
12	chr1:211769200-211771200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:211769400-211770000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:211769400-211770000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:211769400-211770800	Enhancers	HepG2	liver
16	chr1:211769600-211770000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:211769600-211770200	Enhancers	Fetal Intestine Large	intestine
18	chr1:211769600-211770600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:211769800-211770000	Enhancers	Small Intestine	intestine
20	chr1:211769800-211772200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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