Variant report

Variant	rs17491730
Chromosome Location	chr6:24743048-24743049
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:24719452..24722494-chr6:24742032..24745228,7	K562	blood:
2	chr6:24735694..24737854-chr6:24742539..24745038,3	K562	blood:
3	chr6:24719506..24722494-chr6:24741132..24743826,4	K562	blood:

Variant related genes	Relation type
ENSG00000112308	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11559067	1.00[ASN][1000 genomes]
rs16889567	1.00[ASN][1000 genomes]
rs17243276	1.00[ASN][1000 genomes]
rs17249561	1.00[ASN][1000 genomes]
rs17249729	1.00[ASN][1000 genomes]
rs17412874	1.00[ASN][1000 genomes]
rs17419844	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3212238	1.00[ASN][1000 genomes]
rs62400556	1.00[ASN][1000 genomes]
rs62400558	1.00[ASN][1000 genomes]
rs62400559	1.00[ASN][1000 genomes]
rs62400760	1.00[ASN][1000 genomes]
rs62400773	1.00[ASN][1000 genomes]
rs62400774	1.00[ASN][1000 genomes]
rs62400783	1.00[ASN][1000 genomes]
rs62400786	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400787	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400789	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400790	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400791	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62400792	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400793	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400795	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400819	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400821	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62400822	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62400824	0.82[EUR][1000 genomes]
rs62400829	0.82[EUR][1000 genomes]
rs62400832	0.82[EUR][1000 genomes]
rs62402860	1.00[ASN][1000 genomes]
rs62402864	1.00[ASN][1000 genomes]

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	nsv830609	chr6:24712086-24896647	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv428474	chr6:24714157-24797977	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24740800-24743200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:24741800-24743200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:24742000-24746800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:24742200-24743200	Enhancers	HMEC	breast
5	chr6:24742200-24743200	Enhancers	Osteobl	bone
6	chr6:24742400-24743200	Enhancers	NHEK	skin
7	chr6:24742400-24743400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:24742400-24743800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:24742400-24743800	Enhancers	NHLF	lung
10	chr6:24742400-24744000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:24742400-24745400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr6:24742600-24743200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:24742600-24743200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:24742600-24743200	Enhancers	HSMM	muscle
15	chr6:24742600-24743400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:24742600-24743400	Enhancers	HUVEC	blood vessel
17	chr6:24742600-24743600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:24742600-24744000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:24742600-24744000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr6:24742600-24744000	Flanking Active TSS	Hela-S3	cervix
21	chr6:24742600-24744200	Flanking Active TSS	NH-A	brain
22	chr6:24742800-24743200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:24742800-24743200	Enhancers	HSMMtube	muscle
24	chr6:24742800-24743400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:24742800-24743600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr6:24742800-24743800	Weak transcription	Primary B cells from cord blood	blood
27	chr6:24742800-24744200	Enhancers	Stomach Mucosa	stomach
28	chr6:24742800-24744200	Enhancers	K562	blood
29	chr6:24742800-24744400	Flanking Active TSS	GM12878-XiMat	blood
30	chr6:24743000-24743200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:24743000-24743400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:24743000-24743600	Flanking Active TSS	A549	lung
33	chr6:24743000-24743600	Flanking Active TSS	NHDF-Ad	bronchial
34	chr6:24743000-24744000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:24743000-24744200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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