Variant report

Variant	rs3766370
Chromosome Location	chr1:160711477-160711478
allele	C/T
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: 17 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs11265473	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs11588524	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17313034	1.00[CEU][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17313062	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2090756	0.87[AFR][1000 genomes]
rs2295616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35967351	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766373	1.00[CEU][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3766374	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs489286	0.84[CEU][hapmap];0.84[CHB][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs495706	0.80[CEU][hapmap];0.83[CHB][hapmap];0.87[TSI][hapmap]
rs518721	0.84[CEU][hapmap];0.84[CHB][hapmap];0.87[TSI][hapmap]
rs549103	0.84[CHB][hapmap];0.86[CHD][hapmap]
rs573702	1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[JPT][hapmap];0.99[ASN][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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs3766370	RXFP4	cis	parietal	SCAN
rs3766370	SLAMF7	Cis_1M	lymphoblastoid	RTeQTL
rs3766370	ENSG00000026751	cis	multi-tissue	Pritchard
rs3766370	SLAMF7	cis	multi-tissue	Pritchard
rs3766370	OR10J3	cis	cerebellum	SCAN
rs3766370	SLAMF7	cis	lymphoblastoid	seeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160697200-160711600	Weak transcription	Thymus	Thymus
2	chr1:160708200-160715200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:160708600-160713000	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr1:160708800-160711600	Active TSS	GM12878-XiMat	blood
5	chr1:160708800-160712000	Weak transcription	Primary B cells from cord blood	blood
6	chr1:160708800-160712800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr1:160708800-160713400	Active TSS	Duodenum Mucosa	Duodenum
8	chr1:160709000-160711600	Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr1:160709400-160712000	Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr1:160709400-160718400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:160709800-160711600	Active TSS	Colonic Mucosa	Colon
12	chr1:160710200-160712400	Enhancers	Primary B cells from peripheral blood	blood
13	chr1:160710400-160711600	Weak transcription	Fetal Thymus	thymus
14	chr1:160710400-160714000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:160710600-160711800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:160710800-160711800	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr1:160710800-160712000	Active TSS	Rectal Smooth Muscle	rectum
18	chr1:160710800-160713600	Enhancers	Spleen	Spleen
19	chr1:160711000-160715000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:160711200-160712800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:160711200-160717200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr1:160711400-160712400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr1:160711400-160713000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:160711400-160713400	Enhancers	K562	blood
25	chr1:160711400-160715400	Enhancers	Primary T helper cells fromperipheralblood	blood

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