Variant report

Variant	rs4650615
Chromosome Location	chr1:79299650-79299651
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:79299275..79301209-chr1:79305174..79307511,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12024487	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12047517	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12562487	0.80[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap]
rs12568976	0.80[CEU][hapmap];0.88[CHB][hapmap]
rs1489387	0.80[CEU][hapmap];0.88[CHB][hapmap]
rs1489401	0.80[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17102310	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17102369	0.80[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap]
rs17102395	0.80[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap]
rs1780753	0.82[ASN][1000 genomes]
rs1780754	0.82[ASN][1000 genomes]
rs1780755	0.82[ASN][1000 genomes]
rs1780762	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41322946	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931413	0.82[ASN][1000 genomes]
rs931414	0.82[ASN][1000 genomes]
rs931415	0.82[ASN][1000 genomes]
rs971064	0.80[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv526221	chr1:79197624-79487080	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv817535	chr1:79203834-79473089	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv999624	chr1:79230028-79448222	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv535013	chr1:79230028-79448222	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv546619	chr1:79233493-79614989	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:79295800-79300000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:79296000-79299800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:79296000-79300000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:79296000-79300200	Enhancers	NH-A	brain
5	chr1:79296000-79300200	Enhancers	NHDF-Ad	bronchial
6	chr1:79296000-79300200	Enhancers	Osteobl	bone
7	chr1:79296800-79300200	Enhancers	HMEC	breast
8	chr1:79297000-79300400	Enhancers	HSMM	muscle
9	chr1:79297000-79300400	Enhancers	HUVEC	blood vessel
10	chr1:79297200-79299800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:79297600-79299800	Enhancers	Hela-S3	cervix
12	chr1:79297800-79299800	Enhancers	NHEK	skin
13	chr1:79298000-79299800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:79298000-79300000	Enhancers	NHLF	lung
15	chr1:79298800-79300000	Enhancers	Fetal Kidney	kidney
16	chr1:79299000-79302400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:79299200-79302600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:79299200-79302600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:79299600-79300000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:79299600-79300400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:79299600-79302600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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