Variant report

Variant	rs1051091
Chromosome Location	chr1:169677709-169677710
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr1:169677413-169678021	GM12878	blood:	n/a	n/a
2	RCOR1	chr1:169677381-169677823	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SELL	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10800469	0.83[EUR][1000 genomes]
rs10919227	0.80[EUR][1000 genomes]
rs12072966	0.85[CHB][hapmap]
rs12076368	0.90[CHB][hapmap];0.87[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12079552	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12087033	0.85[CHB][hapmap]
rs12131780	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1883228	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1883229	0.90[CHB][hapmap];0.87[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1961877	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2205847	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2205849	0.90[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap];0.91[LWK][hapmap];0.95[MKK][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2229569	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2298899	0.85[CHB][hapmap]
rs2420503	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2420505	0.83[CEU][hapmap]
rs35289447	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3766129	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917406	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs3917413	0.86[EUR][1000 genomes]
rs3917428	0.85[CHB][hapmap]
rs3917430	0.90[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap];0.91[LWK][hapmap];0.95[MKK][hapmap];0.95[YRI][hapmap];0.92[ASN][1000 genomes]
rs3917432	0.85[CHB][hapmap]
rs3917435	0.92[ASN][1000 genomes]
rs3917436	0.94[CEU][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs3917444	0.87[EUR][1000 genomes]
rs3917449	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4265482	0.89[EUR][1000 genomes]
rs4427452	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4656189	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4656697	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs4656698	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4656701	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4656703	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4656704	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4786	0.94[CEU][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs4987266	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4987270	0.87[EUR][1000 genomes]
rs4987285	0.80[ASW][hapmap];0.94[CEU][hapmap];0.88[JPT][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4987298	0.90[CHB][hapmap];0.86[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4987301	0.85[CHB][hapmap]
rs4987306	0.85[CHB][hapmap]
rs4987314	0.85[CHB][hapmap]
rs4987318	0.94[CEU][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4987320	0.85[CHB][hapmap]
rs4987322	0.85[CHB][hapmap]
rs4987328	0.85[CHB][hapmap]
rs5353	0.94[CEU][hapmap];0.92[TSI][hapmap]
rs5359	0.90[CHB][hapmap];0.94[CHD][hapmap];0.87[JPT][hapmap];0.91[LWK][hapmap];0.95[MKK][hapmap];0.95[YRI][hapmap];0.92[ASN][1000 genomes]
rs58662634	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs59807249	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6427212	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs727909	0.87[EUR][1000 genomes]
rs7418242	0.85[CHB][hapmap]
rs7513119	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs932307	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap]
rs964555	0.85[CHB][hapmap]
rs964556	0.85[CHB][hapmap]
rs964557	0.85[CHB][hapmap]

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	nsv532586	chr1:169593222-169713184	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1009313	chr1:169661299-169680173	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv872541	chr1:169672360-169695815	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs1051091	SELL	Cis_1M	lymphoblastoid	RTeQTL
rs1051091	POGK	cis	cerebellum	SCAN
rs1051091	C1orf156	cis	cerebellum	SCAN
rs1051091	C1orf156	cis	parietal	SCAN
rs1051091	METTL18	cis	lung	GTEx
rs1051091	METTL18	cis	Artery Tibial	GTEx
rs1051091	ILDR2	cis	cerebellum	SCAN
rs1051091	KIFAP3	cis	parietal	SCAN
rs1051091	METTL18	cis	Esophagus Mucosa	GTEx
rs1051091	FMO2	cis	cerebellum	SCAN
rs1051091	METTL18	cis	Thyroid	GTEx
rs1051091	METTL18	cis	Adipose Subcutaneous	GTEx
rs1051091	KIFAP3	cis	cerebellum	SCAN
rs1051091	C1orf156	cis	lymphoblastoid	seeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169670600-169678000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr1:169671200-169679400	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr1:169672600-169678000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:169673200-169678400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
5	chr1:169674400-169678000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells	blood
6	chr1:169675600-169678200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr1:169675800-169678000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:169676000-169677800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr1:169676000-169679400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
10	chr1:169676200-169678000	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:169676400-169680600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr1:169676600-169681400	Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr1:169677200-169677800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
14	chr1:169677200-169677800	Flanking Active TSS	GM12878-XiMat	blood
15	chr1:169677200-169678000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
16	chr1:169677200-169678000	Flanking Active TSS	Thymus	Thymus
17	chr1:169677200-169678200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr1:169677200-169679400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
19	chr1:169677400-169677800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:169677400-169677800	Active TSS	Rectal Smooth Muscle	rectum
21	chr1:169677400-169677800	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr1:169677400-169678000	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
23	chr1:169677400-169678000	Flanking Active TSS	Fetal Thymus	thymus
24	chr1:169677400-169678000	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr1:169677400-169678200	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr1:169677400-169680600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:169677400-169681000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:169677600-169677800	Bivalent/Poised TSS	Small Intestine	intestine
29	chr1:169677600-169678000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
30	chr1:169677600-169678800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr1:169677600-169680200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:169677600-169681000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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