Variant report

Variant	rs9885334
Chromosome Location	chr5:70750188-70750189
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:70750152-70750202	PFSK-1	brain:	n/a
2	chr5:70750152-70750202	AG04449	skin:	fetal
3	chr5:70750152-70750202	NT2-D1	testis:	n/a
4	chr5:70750152-70750202	HPAEpiC	pulmonary alveolar:	n/a
5	chr5:70750152-70750202	HAEpiC	amniotic membrane:	n/a
6	chr5:70750152-70750202	SK-N-SH	brain:	n/a
7	chr5:70750152-70750202	AG04450	lung:	fetal
8	chr5:70750152-70750202	HCT-116	colon:	n/a
9	chr5:70750152-70750202	HMEC	breast:	n/a
10	chr5:70750152-70750202	HCPEpiC	choroid plexus:	n/a
11	chr5:70750152-70750202	SK-N-MC	brain:	n/a
12	chr5:70750152-70750202	HIPEpiC	eye:	n/a
13	chr5:70750152-70750202	GM12892	blood:	n/a
14	chr5:70750152-70750202	HRCEpiC	kidney:	n/a
15	chr5:70750152-70750202	PrEC	prostate:	n/a
16	chr5:70750152-70750202	BE2_C	brain:	n/a
17	chr5:70750152-70750202	LNCaP	prostate:	n/a
18	chr5:70750152-70750202	MCF10A-Er-Src	breast:	n/a
19	chr5:70750152-70750202	GM19239	blood:	n/a
20	chr5:70750152-70750202	Jurkat	blood:	n/a
21	chr5:70750152-70750202	CMK	blood:	n/a
22	chr5:70750152-70750202	ProgFib	skin:	n/a
23	chr5:70750152-70750202	PANC-1	pancreas:	n/a
24	chr5:70750152-70750202	Hepatocyte	liver:	n/a
25	chr5:70750152-70750202	NB4	blood:	n/a
26	chr5:70750152-70750202	A549	lung:	n/a
27	chr5:70750152-70750202	AG09319	gingival:	n/a
28	chr5:70750152-70750202	HRPEpiC	eye:	n/a
29	chr5:70750152-70750202	SKMC	muscle:	n/a
30	chr5:70750152-70750202	NHDF-neo	bronchial:	n/a
31	chr5:70750152-70750202	SAEC	small airway:	n/a
32	chr5:70750152-70750202	MCF-7	breast:	n/a
33	chr5:70750152-70750202	H1-hESC	embryonic stem cell:	embryo
34	chr5:70750152-70750202	GM06990	blood:	n/a
35	chr5:70750152-70750202	AG09309	skin:	n/a
36	chr5:70750152-70750202	HNPCEpiC	eye:	n/a
37	chr5:70750152-70750202	K562	blood:	n/a
38	chr5:70750152-70750202	Caco-2	colon:	n/a
39	chr5:70750152-70750202	HRE	kidney:	n/a
40	chr5:70750152-70750202	NHBE	bronchial:	n/a
41	chr5:70750152-70750202	HEEpiC	esophagus:	n/a
42	chr5:70750152-70750202	Hela-S3	cervix:	n/a
43	chr5:70750152-70750202	ovcar-3	ovarian:	n/a
44	chr5:70750152-70750202	ECC-1	luminal epithelium:	n/a
45	chr5:70750152-70750202	HEK293	kidney:	embryo
46	chr5:70750152-70750202	U87	brain:	n/a
47	chr5:70750152-70750202	GM12878	blood:	n/a
48	chr5:70750152-70750202	SK-N-SH_RA	brain:	n/a
49	chr5:70750152-70750202	HCM	heart:	n/a
50	chr5:70750152-70750202	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:70749978..70751854-chr5:70881938..70884932,2	K562	blood:

No data

Variant related genes	Relation type
BDP1	CpG island
ENSG00000131844	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10038709	0.84[ASN][1000 genomes]
rs10057258	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10079014	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1017225	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10942288	0.85[EUR][1000 genomes]
rs10942548	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12187886	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12652916	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13169095	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13182226	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13183892	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs156756	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs166758	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs16871757	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1990996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059196	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs276589	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs277941	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs277946	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs277947	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs277952	0.96[CEU][hapmap];0.91[CHB][hapmap];0.80[CHD][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap]
rs277955	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs277983	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap]
rs277987	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap]
rs277988	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs277990	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap]
rs277991	0.95[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap]
rs277993	0.96[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap]
rs277994	0.96[CEU][hapmap]
rs279289	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs282357	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap]
rs3761966	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs388918	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs411050	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs412766	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs421128	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs457889	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs458829	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4602607	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs461942	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs462534	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs464639	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs467880	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs467883	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs468010	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs468796	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4703987	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4704050	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55884527	0.80[ASN][1000 genomes]
rs561139	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs617876	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67735897	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6872978	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7443752	0.81[ASN][1000 genomes]
rs875136	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv528571	chr5:70679626-70767269	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv882176	chr5:70738250-70860665	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2754424	chr5:70749744-70885544	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9885334	MRPS27	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70746800-70751000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:70747000-70750800	Weak transcription	Pancreas	Pancrea
3	chr5:70748600-70750800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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