Variant report

Variant	rs2316327
Chromosome Location	chr17:45078498-45078499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45078439..45078999-chr4:28740495..28741046,2	MCF-7	breast:
2	chr17:45019636..45020289-chr17:45077991..45079169,4	MCF-7	breast:
3	chr17:45019970..45020552-chr17:45078269..45079135,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11651232	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11651386	0.94[ASN][1000 genomes]
rs11656290	0.96[ASN][1000 genomes]
rs11656787	0.98[ASN][1000 genomes]
rs11657300	0.94[ASN][1000 genomes]
rs12449354	0.95[ASN][1000 genomes]
rs12603324	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16941434	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16941443	0.94[EUR][1000 genomes]
rs2316757	0.98[ASN][1000 genomes]
rs2316759	0.96[ASN][1000 genomes]
rs2317995	0.98[ASN][1000 genomes]
rs2317996	0.98[ASN][1000 genomes]
rs2873608	0.98[ASN][1000 genomes]
rs3851794	0.98[ASN][1000 genomes]
rs3851797	0.98[ASN][1000 genomes]
rs3851800	0.98[ASN][1000 genomes]
rs3851802	0.98[ASN][1000 genomes]
rs3863499	0.93[ASN][1000 genomes]
rs3883305	0.88[EUR][1000 genomes]
rs3892426	0.98[ASN][1000 genomes]
rs3892427	0.96[ASN][1000 genomes]
rs3892428	0.98[ASN][1000 genomes]
rs3892678	0.98[ASN][1000 genomes]
rs3901590	0.98[ASN][1000 genomes]
rs4274483	0.98[ASN][1000 genomes]
rs4305136	0.98[ASN][1000 genomes]
rs4468691	0.98[ASN][1000 genomes]
rs4569351	0.98[ASN][1000 genomes]
rs4968294	0.96[ASN][1000 genomes]
rs4968295	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4968296	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58736644	0.89[EUR][1000 genomes]
rs61173406	0.93[ASN][1000 genomes]
rs62073769	0.80[EUR][1000 genomes]
rs62075930	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6504635	0.88[ASN][1000 genomes]
rs6504637	0.98[ASN][1000 genomes]
rs6504638	0.98[ASN][1000 genomes]
rs6504640	0.98[ASN][1000 genomes]
rs6504647	0.98[ASN][1000 genomes]
rs7210126	0.98[ASN][1000 genomes]
rs7214665	0.98[ASN][1000 genomes]
rs7219480	0.98[ASN][1000 genomes]
rs7221913	0.98[ASN][1000 genomes]
rs8064764	0.98[ASN][1000 genomes]
rs8064863	0.93[ASN][1000 genomes]
rs8065072	0.97[ASN][1000 genomes]
rs8065103	0.97[ASN][1000 genomes]
rs8068375	0.97[ASN][1000 genomes]
rs8069682	0.97[ASN][1000 genomes]
rs8071977	0.90[ASN][1000 genomes]
rs8073175	0.97[ASN][1000 genomes]
rs8073261	0.98[ASN][1000 genomes]
rs8074704	0.98[ASN][1000 genomes]
rs8074861	0.98[ASN][1000 genomes]
rs8075457	0.93[ASN][1000 genomes]
rs8078196	0.98[ASN][1000 genomes]
rs8078665	0.98[ASN][1000 genomes]
rs8081157	0.92[ASN][1000 genomes]
rs9891441	0.97[ASN][1000 genomes]
rs9891658	0.93[ASN][1000 genomes]
rs9910512	0.98[ASN][1000 genomes]
rs9989485	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
rs2316327	RPRML	cis	Muscle Skeletal	GTEx

Chromatin state (count:40 , 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	chr17:45060200-45080800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr17:45061400-45086600	Weak transcription	Fetal Stomach	stomach
6	chr17:45061800-45087600	Weak transcription	Spleen	Spleen
7	chr17:45062200-45113200	Weak transcription	Ovary	ovary
8	chr17:45064200-45083000	Weak transcription	Brain Germinal Matrix	brain
9	chr17:45071200-45082200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:45073000-45082400	Weak transcription	Brain Substantia Nigra	brain
11	chr17:45074000-45081800	Weak transcription	HUVEC	blood vessel
12	chr17:45075200-45130200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr17:45076400-45087000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:45078000-45078600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:45078000-45080000	Enhancers	Primary B cells from cord blood	blood
16	chr17:45078200-45079200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr17:45078200-45079400	Enhancers	Primary B cells from peripheral blood	blood
18	chr17:45078400-45078600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr17:45078400-45078600	Enhancers	Brain Anterior Caudate	brain
20	chr17:45078400-45078600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr17:45078400-45078600	Enhancers	Colon Smooth Muscle	Colon
22	chr17:45078400-45078600	Enhancers	Placenta	Placenta
23	chr17:45078400-45078600	Enhancers	Pancreas	Pancrea
24	chr17:45078400-45078600	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr17:45078400-45078600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr17:45078400-45078600	Enhancers	Thymus	Thymus
27	chr17:45078400-45078800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr17:45078400-45078800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr17:45078400-45079000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr17:45078400-45079000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr17:45078400-45079000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr17:45078400-45079000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr17:45078400-45079000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr17:45078400-45079000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr17:45078400-45079000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:45078400-45079000	Active TSS	Adipose Nuclei	Adipose
37	chr17:45078400-45079000	Enhancers	Brain Hippocampus Middle	brain
38	chr17:45078400-45079200	Enhancers	GM12878-XiMat	blood
39	chr17:45078400-45079400	Enhancers	Dnd41	blood
40	chr17:45078400-45079400	Flanking Active TSS	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links