Variant report

Variant	rs4026627
Chromosome Location	chr1:212858348-212858349
allele	G/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212856876..212859074-chr1:212871826..212873912,2	K562	blood:
2	chr1:212858272..212860534-chr1:212861988..212863747,2	K562	blood:
3	chr1:212856855..212858947-chr1:212862526..212864877,2	MCF-7	breast:
4	chr1:212640637..212643288-chr1:212857721..212859450,2	K562	blood:
5	chr1:212856703..212859262-chr1:212873284..212875727,3	K562	blood:
6	chr1:212851040..212855618-chr1:212856353..212859707,5	MCF-7	breast:
7	chr1:212855556..212859090-chr1:212860811..212864685,4	K562	blood:
8	chr1:212857319..212860671-chr1:212865664..212868851,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123685	Chromatin interaction
ENSG00000224535	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12068304	0.87[EUR][1000 genomes]
rs12726783	0.89[ASN][1000 genomes]
rs12754070	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17019553	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs17019556	0.89[ASN][1000 genomes]
rs2884573	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35027464	1.00[ASN][1000 genomes]
rs55846918	0.89[ASN][1000 genomes]
rs56283090	0.89[ASN][1000 genomes]
rs59691875	1.00[ASN][1000 genomes]
rs59746440	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59877390	1.00[ASN][1000 genomes]
rs72756401	0.89[ASN][1000 genomes]
rs72758412	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs882410	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs906363	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9658807	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh 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	81 gene(s)	inside rSNPs	diseases
4	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	esv1829918	chr1:212828460-212874731	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4026627	RP11-61J19.3	cis	Thyroid	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212853800-212860000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:212855800-212858400	Enhancers	Primary B cells from cord blood	blood
3	chr1:212856000-212867200	Weak transcription	Brain Anterior Caudate	brain
4	chr1:212856200-212862600	Weak transcription	Lung	lung
5	chr1:212856600-212861600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:212857000-212867000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:212857200-212860600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:212857200-212862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:212857200-212862200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:212857200-212871600	Weak transcription	Dnd41	blood
11	chr1:212857600-212858400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:212857600-212859000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr1:212857600-212863200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:212857600-212869800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:212857800-212859200	Enhancers	GM12878-XiMat	blood
16	chr1:212857800-212866200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:212858000-212858400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr1:212858000-212858400	Bivalent Enhancer	Placenta	Placenta
19	chr1:212858000-212860000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:212858200-212858400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:212858200-212858800	Enhancers	Adipose Nuclei	Adipose
22	chr1:212858200-212858800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr1:212858200-212859400	Weak transcription	Spleen	Spleen
24	chr1:212858200-212859800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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