Variant report

Variant	rs6751316
Chromosome Location	chr2:100365061-100365062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1429270	0.83[AMR][1000 genomes]
rs1429271	0.83[AMR][1000 genomes]
rs2049400	0.82[CEU][hapmap]
rs2309651	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2309727	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6542892	1.00[AFR][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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6751316	IL1RL1	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100346200-100379400	Weak transcription	Fetal Lung	lung
2	chr2:100356600-100370400	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:100357600-100369200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:100357600-100389400	Weak transcription	Thymus	Thymus
5	chr2:100358200-100370000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:100358400-100370000	Weak transcription	Spleen	Spleen
7	chr2:100358400-100375400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr2:100358600-100370000	Weak transcription	NH-A	brain
9	chr2:100358800-100375600	Strong transcription	Primary B cells from cord blood	blood
10	chr2:100359600-100379200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:100359800-100368600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:100360000-100383400	Weak transcription	Ovary	ovary
13	chr2:100360000-100394600	Weak transcription	Dnd41	blood
14	chr2:100360200-100385200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:100360400-100371200	Weak transcription	Liver	Liver
16	chr2:100363800-100365200	Enhancers	Left Ventricle	heart
17	chr2:100364200-100365200	Strong transcription	Primary T cells from cord blood	blood
18	chr2:100364200-100365200	Enhancers	Right Ventricle	heart
19	chr2:100364200-100365600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:100364200-100366200	Enhancers	Fetal Heart	heart
21	chr2:100364400-100365200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:100364400-100365200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:100364400-100365400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr2:100364400-100365400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:100364400-100365600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr2:100364400-100365600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:100364400-100365600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:100364400-100365600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:100364400-100365600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:100364600-100365400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:100364600-100365600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:100365000-100365200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:100365000-100370000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:100365000-100370000	Weak transcription	Gastric	stomach

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