Variant report

Variant	rs4656697
Chromosome Location	chr1:169679179-169679180
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1051091	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs10800469	0.91[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10919227	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12131780	0.86[EUR][1000 genomes]
rs1883228	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs2205847	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs2420503	0.87[EUR][1000 genomes]
rs3766129	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs3917406	0.94[CEU][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3917413	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3917423	0.81[JPT][hapmap]
rs3917436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3917444	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3917449	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4265482	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4656189	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4656701	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4656703	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4656704	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4987270	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4987285	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4987318	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5353	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs727909	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs932307	0.94[CEU][hapmap];0.86[JPT][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4656697	SELL	Cis_1M	lymphoblastoid	RTeQTL
rs4656697	METTL18	cis	Artery Tibial	GTEx
rs4656697	METTL18	cis	Esophagus Mucosa	GTEx

Chromatin state (count:32 , 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	chr1:169676000-169679400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
3	chr1:169676400-169680600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
4	chr1:169676600-169681400	Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr1:169677200-169679400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
6	chr1:169677400-169680600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:169677400-169681000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:169677600-169680200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:169677600-169681000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:169677800-169680600	Active TSS	Primary T cells fromperipheralblood	blood
11	chr1:169677800-169680600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:169678000-169680000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:169678000-169681000	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr1:169678000-169681000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr1:169678200-169681000	Active TSS	Primary T cells from cord blood	blood
16	chr1:169678400-169679400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr1:169678400-169679600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:169678400-169681400	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr1:169678600-169679200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
20	chr1:169678600-169679400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
21	chr1:169678600-169679600	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:169678600-169679800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:169678800-169679200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr1:169678800-169679200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
25	chr1:169678800-169679200	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr1:169678800-169679200	Active TSS	Small Intestine	intestine
27	chr1:169678800-169679200	Flanking Active TSS	GM12878-XiMat	blood
28	chr1:169678800-169679400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr1:169678800-169679800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr1:169678800-169680400	Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr1:169678800-169680400	Active TSS	Fetal Thymus	thymus
32	chr1:169678800-169680600	Active TSS	Thymus	Thymus

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