Variant report

Variant	rs474918
Chromosome Location	chr1:160771197-160771198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11265492	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12117689	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12128261	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12143580	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1556517	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1961611	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271967	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35132864	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3766377	0.84[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3817407	0.94[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4656270	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4656271	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4656932	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4656933	0.95[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831714	chr1:160581168-160776809	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv464161	chr1:160747615-160852046	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv548057	chr1:160747615-160852046	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs474918	SLAMF7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160765400-160772200	Enhancers	Dnd41	blood
2	chr1:160766200-160771400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr1:160766800-160771400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr1:160768000-160771200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
5	chr1:160768000-160771600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:160768600-160774000	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr1:160768800-160772600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:160769000-160771600	Weak transcription	Spleen	Spleen
9	chr1:160769200-160771800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:160769600-160771800	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
11	chr1:160770000-160771200	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr1:160770200-160771200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:160770400-160771400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:160770600-160771400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr1:160770600-160771600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr1:160770800-160771200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr1:160770800-160771200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr1:160770800-160771200	Active TSS	Duodenum Mucosa	Duodenum
19	chr1:160770800-160771400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:160770800-160771600	Weak transcription	Thymus	Thymus
21	chr1:160771000-160771400	Weak transcription	Fetal Thymus	thymus
22	chr1:160771000-160771600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:160771000-160771600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:160771000-160771600	Enhancers	GM12878-XiMat	blood
25	chr1:160771000-160774400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr1:160771000-160806600	Weak transcription	Rectal Mucosa Donor 29	rectum

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