Variant report

Variant	rs12697859
Chromosome Location	chr5:76152824-76152825
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	chr5:76150968..76153966-chr5:76157599..76160236,2	K562	blood:
2	chr5:76149093..76150688-chr5:76152808..76155326,2	K562	blood:

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

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

rs_ID	r²[population]
rs10035244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12697860	1.00[ASN][1000 genomes]
rs13153356	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13187905	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1988638	0.89[EUR][1000 genomes]
rs2359422	0.88[EUR][1000 genomes]
rs2359423	0.91[EUR][1000 genomes]
rs2434648	1.00[ASN][1000 genomes]
rs2434660	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs2460501	1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs2460505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460506	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.97[ASN][1000 genomes]
rs2460508	0.89[CEU][hapmap];0.97[GIH][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes]
rs6453256	0.87[EUR][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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3393424	chr5:76122720-76287744	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2762526	chr5:76134777-76153934	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv34133	chr5:76138696-76239330	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12697859	F2RL1	cis	multi-tissue	Pritchard

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76145200-76153400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr5:76147800-76154800	Enhancers	Primary hematopoietic stem cells	blood
3	chr5:76148400-76156800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:76149800-76154600	Enhancers	Stomach Mucosa	stomach
5	chr5:76150000-76153200	Enhancers	Fetal Intestine Small	intestine
6	chr5:76150200-76153000	Enhancers	K562	blood
7	chr5:76150400-76153000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:76150400-76153600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr5:76150400-76153800	Enhancers	Primary B cells from cord blood	blood
10	chr5:76150600-76153000	Enhancers	Primary T cells from cord blood	blood
11	chr5:76150600-76153000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:76150600-76153000	Enhancers	Spleen	Spleen
13	chr5:76150600-76153200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr5:76150600-76153200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr5:76150800-76153000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr5:76150800-76153200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr5:76151000-76153000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr5:76151400-76153800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:76152200-76155800	Weak transcription	Small Intestine	intestine
20	chr5:76152600-76153400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr5:76152600-76154400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr5:76152600-76155600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr5:76152600-76157200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:76152800-76153000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr5:76152800-76153000	Enhancers	Placenta	Placenta
26	chr5:76152800-76154800	Weak transcription	Fetal Intestine Large	intestine
27	chr5:76152800-76156800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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