Variant report

Variant	rs16941443
Chromosome Location	chr17:45082237-45082238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45078986..45081713-chr17:45082135..45084320,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12603324	0.90[EUR][1000 genomes]
rs16941434	0.90[EUR][1000 genomes]
rs1989858	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.87[YRI][hapmap]
rs2002537	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs2316327	0.94[EUR][1000 genomes]
rs2317996	0.84[JPT][hapmap]
rs3851800	0.84[JPT][hapmap]
rs3883305	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58736644	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62073769	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62075930	0.89[EUR][1000 genomes]
rs6504640	0.85[JPT][hapmap]
rs8071762	0.81[AMR][1000 genomes]
rs8074704	0.85[JPT][hapmap]
rs8078196	0.85[JPT][hapmap]
rs8080216	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8081157	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv833466	chr17:45020360-45204537	Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	70 gene(s)	inside rSNPs	diseases
8	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16941443	RPRML	cis	Muscle Skeletal	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45057200-45086800	Weak transcription	Right Atrium	heart
2	chr17:45057200-45100000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr17:45057800-45082400	Weak transcription	Brain Angular Gyrus	brain
4	chr17:45061400-45086600	Weak transcription	Fetal Stomach	stomach
5	chr17:45061800-45087600	Weak transcription	Spleen	Spleen
6	chr17:45062200-45113200	Weak transcription	Ovary	ovary
7	chr17:45064200-45083000	Weak transcription	Brain Germinal Matrix	brain
8	chr17:45073000-45082400	Weak transcription	Brain Substantia Nigra	brain
9	chr17:45075200-45130200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr17:45076400-45087000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:45078600-45082800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr17:45078600-45087000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr17:45079000-45082400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:45079000-45082400	Weak transcription	Brain Hippocampus Middle	brain
15	chr17:45079200-45098200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr17:45079400-45082400	Weak transcription	HepG2	liver
17	chr17:45079400-45095800	Weak transcription	Fetal Intestine Small	intestine
18	chr17:45082200-45082400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:45082200-45083000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr17:45082200-45083000	Flanking Active TSS	HUVEC	blood vessel
21	chr17:45082200-45083200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr17:45082200-45083600	Enhancers	Cortex derived primary cultured neurospheres	brain

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