Variant report

Variant	rs540254
Chromosome Location	chr1:160767737-160767738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160750574..160752770-chr1:160766750..160768788,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10797086	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127562	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1333065	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3904492	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6659569	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695672	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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
rs540254	SLAMF7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160765400-160768400	Flanking Active TSS	GM12878-XiMat	blood
2	chr1:160765400-160772200	Enhancers	Dnd41	blood
3	chr1:160765800-160768000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:160765800-160768000	Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr1:160765800-160768000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr1:160765800-160768000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr1:160765800-160768200	Flanking Active TSS	Primary B cells from peripheral blood	blood
8	chr1:160765800-160768400	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr1:160765800-160769200	Flanking Active TSS	Fetal Thymus	thymus
10	chr1:160766000-160767800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:160766000-160768000	Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr1:160766000-160768400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr1:160766200-160771400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr1:160766800-160768400	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:160766800-160771400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr1:160767000-160768600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr1:160767000-160768800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:160767200-160768200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:160767200-160768400	Weak transcription	Spleen	Spleen
20	chr1:160767400-160767800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:160767400-160768000	Active TSS	Primary T cells fromperipheralblood	blood
22	chr1:160767400-160768000	Active TSS	Thymus	Thymus
23	chr1:160767400-160768200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:160767400-160768400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:160767600-160767800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:160767600-160768000	Active TSS	Primary T cells from cord blood	blood
27	chr1:160767600-160768000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:160767600-160768200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:160767600-160768200	Weak transcription	Duodenum Mucosa	Duodenum

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