Variant report

Variant	rs6695672
Chromosome Location	chr1:160764699-160764700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:160764664-160764714	ovcar-3	ovarian:	n/a
2	chr1:160764664-160764714	HCT-116	colon:	n/a
3	chr1:160764664-160764714	NHBE	bronchial:	n/a
4	chr1:160764664-160764714	GM12891	blood:	n/a
5	chr1:160764664-160764714	GM19239	blood:	n/a
6	chr1:160764664-160764714	MCF10A-Er-Src	breast:	n/a
7	chr1:160764664-160764714	HepG2	liver:	n/a
8	chr1:160764664-160764714	U87	brain:	n/a
9	chr1:160764664-160764714	ProgFib	skin:	n/a
10	chr1:160764664-160764714	HUVEC	blood vessel:	n/a
11	chr1:160764664-160764714	HNPCEpiC	eye:	n/a
12	chr1:160764664-160764714	SKMC	muscle:	n/a
13	chr1:160764664-160764714	Caco-2	colon:	n/a
14	chr1:160764664-160764714	MCF-7	breast:	n/a
15	chr1:160764664-160764714	H1-hESC	embryonic stem cell:	embryo
16	chr1:160764664-160764714	AG04449	skin:	fetal
17	chr1:160764664-160764714	NH-A	brain:	n/a
18	chr1:160764664-160764714	SK-N-SH_RA	brain:	n/a
19	chr1:160764664-160764714	NHDF-neo	bronchial:	n/a
20	chr1:160764664-160764714	BE2_C	brain:	n/a
21	chr1:160764664-160764714	NT2-D1	testis:	n/a
22	chr1:160764664-160764714	PANC-1	pancreas:	n/a
23	chr1:160764664-160764714	Hepatocyte	liver:	n/a
24	chr1:160764664-160764714	AG09319	gingival:	n/a
25	chr1:160764664-160764714	SAEC	small airway:	n/a
26	chr1:160764664-160764714	HMEC	breast:	n/a
27	chr1:160764664-160764714	GM12892	blood:	n/a
28	chr1:160764664-160764714	K562	blood:	n/a
29	chr1:160764664-160764714	RPTEC	kidney:	n/a
30	chr1:160764664-160764714	ECC-1	luminal epithelium:	n/a
31	chr1:160764664-160764714	HCM	heart:	n/a
32	chr1:160764664-160764714	HAEpiC	amniotic membrane:	n/a
33	chr1:160764664-160764714	GM06990	blood:	n/a
34	chr1:160764664-160764714	AG04450	lung:	fetal
35	chr1:160764664-160764714	AG09309	skin:	n/a
36	chr1:160764664-160764714	HL-60	blood:	n/a
37	chr1:160764664-160764714	IMR90	lung:	fetal
38	chr1:160764664-160764714	SK-N-MC	brain:	n/a
39	chr1:160764664-160764714	AoSMC	blood vessel:	n/a
40	chr1:160764664-160764714	NB4	blood:	n/a
41	chr1:160764664-160764714	LNCaP	prostate:	n/a
42	chr1:160764664-160764714	BJ	skin:	n/a
43	chr1:160764664-160764714	GM12878	blood:	n/a
44	chr1:160764664-160764714	HIPEpiC	eye:	n/a
45	chr1:160764664-160764714	HRCEpiC	kidney:	n/a
46	chr1:160764664-160764714	PFSK-1	brain:	n/a
47	chr1:160764664-160764714	HCPEpiC	choroid plexus:	n/a
48	chr1:160764664-160764714	HRPEpiC	eye:	n/a
49	chr1:160764664-160764714	AG10803	skin:	n/a
50	chr1:160764664-160764714	PrEC	prostate:	n/a

No data

Variant related genes	Relation type
LY9	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10797086	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127562	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1333065	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3904492	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs540254	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6659569	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv428532	chr1:160671125-160767708	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	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
5	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
rs6695672	SLAMF7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160745400-160764800	Weak transcription	Primary T cells from cord blood	blood
2	chr1:160759400-160766800	Weak transcription	Spleen	Spleen
3	chr1:160760000-160765400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:160760600-160764800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:160760600-160764800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:160760600-160764800	Weak transcription	Fetal Thymus	thymus
7	chr1:160760600-160765400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:160761200-160765200	Weak transcription	GM12878-XiMat	blood
9	chr1:160762000-160765000	Weak transcription	Primary B cells from cord blood	blood
10	chr1:160764200-160765400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:160764200-160765400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:160764200-160765800	Enhancers	Primary B cells from peripheral blood	blood
13	chr1:160764600-160765000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:160764600-160765200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:160764600-160765800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:160764600-160766000	Enhancers	Primary T helper cells PMA-I stimulated	--

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