Variant report

Variant	rs573702
Chromosome Location	chr1:160710243-160710244
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	chr1:160703115..160704961-chr1:160709478..160711746,2	K562	blood:
2	chr1:160702552..160704615-chr1:160709691..160711746,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2295616	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34158391	0.81[AFR][1000 genomes]
rs35967351	0.99[ASN][1000 genomes]
rs3766370	1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs489286	0.84[CHB][hapmap]
rs495706	0.83[CHB][hapmap]
rs518721	0.84[CHB][hapmap]
rs549103	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs573702	SLAMF7	cis	lymphoblastoid	seeQTL
rs573702	SDHC	cis	parietal	SCAN
rs573702	CCT3	cis	parietal	SCAN
rs573702	SLAMF7	Cis_1M	lymphoblastoid	RTeQTL
rs573702	LY9	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160697200-160711600	Weak transcription	Thymus	Thymus
2	chr1:160704400-160711200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:160708200-160715200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:160708600-160713000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr1:160708800-160710800	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr1:160708800-160711600	Active TSS	GM12878-XiMat	blood
7	chr1:160708800-160712000	Weak transcription	Primary B cells from cord blood	blood
8	chr1:160708800-160712800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr1:160708800-160713400	Active TSS	Duodenum Mucosa	Duodenum
10	chr1:160709000-160711400	Active TSS	Primary T cells fromperipheralblood	blood
11	chr1:160709000-160711600	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr1:160709200-160710800	Weak transcription	Spleen	Spleen
13	chr1:160709400-160710400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:160709400-160711000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:160709400-160711400	Weak transcription	K562	blood
16	chr1:160709400-160712000	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr1:160709400-160718400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:160709800-160711600	Active TSS	Colonic Mucosa	Colon
19	chr1:160710000-160710400	Enhancers	Fetal Thymus	thymus
20	chr1:160710000-160710800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:160710200-160710400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:160710200-160710400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr1:160710200-160712400	Enhancers	Primary B cells from peripheral blood	blood

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