Variant report

Variant	rs4987285
Chromosome Location	chr1:169678024-169678025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1051091	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]
rs10800469	0.90[EUR][1000 genomes]
rs10919227	0.87[EUR][1000 genomes]
rs12131780	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1883228	0.94[CEU][hapmap];0.88[JPT][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2205847	0.80[ASW][hapmap];0.94[CEU][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2420503	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3766129	0.94[CEU][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3917406	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs3917413	0.93[EUR][1000 genomes]
rs3917436	1.00[CEU][hapmap];0.80[MEX][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs3917444	0.94[EUR][1000 genomes]
rs3917449	0.87[EUR][1000 genomes]
rs4265482	0.82[EUR][1000 genomes]
rs4656189	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4656697	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4656701	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4656703	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656704	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4786	1.00[CEU][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs4987270	0.94[EUR][1000 genomes]
rs4987318	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5353	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs727909	0.94[EUR][1000 genomes]
rs932307	0.94[CEU][hapmap];0.92[TSI][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:13)

SNP	Gene	Cis/trans	Tissue	Source
rs4987285	SELL	Cis_1M	lymphoblastoid	RTeQTL
rs4987285	KIFAP3	cis	parietal	SCAN
rs4987285	METTL18	cis	Artery Tibial	GTEx
rs4987285	POGK	cis	cerebellum	SCAN
rs4987285	KIFAP3	cis	cerebellum	SCAN
rs4987285	METTL18	cis	Thyroid	GTEx
rs4987285	METTL18	cis	Esophagus Mucosa	GTEx
rs4987285	C1orf156	cis	cerebellum	SCAN
rs4987285	FMO2	cis	cerebellum	SCAN
rs4987285	FMO3	cis	cerebellum	SCAN
rs4987285	C1orf156	cis	lymphoblastoid	seeQTL
rs4987285	C1orf156	cis	parietal	SCAN
rs4987285	ILDR2	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169671200-169679400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr1:169673200-169678400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
3	chr1:169675600-169678200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr1:169676000-169679400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
5	chr1:169676400-169680600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
6	chr1:169676600-169681400	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr1:169677200-169678200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr1:169677200-169679400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
9	chr1:169677400-169678200	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr1:169677400-169680600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:169677400-169681000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:169677600-169678800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr1:169677600-169680200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:169677600-169681000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:169677800-169678200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:169677800-169678400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:169677800-169678800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:169677800-169678800	Active TSS	GM12878-XiMat	blood
19	chr1:169677800-169680600	Active TSS	Primary T cells fromperipheralblood	blood
20	chr1:169677800-169680600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:169678000-169678200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:169678000-169678400	Active TSS	Primary hematopoietic stem cells	blood
23	chr1:169678000-169678400	Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr1:169678000-169678600	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr1:169678000-169678600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:169678000-169678800	Weak transcription	Fetal Thymus	thymus
27	chr1:169678000-169678800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:169678000-169678800	Weak transcription	Thymus	Thymus
29	chr1:169678000-169680000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:169678000-169681000	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr1:169678000-169681000	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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