Variant report

Variant	rs444403
Chromosome Location	chr5:76097276-76097277
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10058498	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12187125	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13162638	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13173178	0.88[EUR][1000 genomes]
rs1529505	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2115499	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2242995	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2243003	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2243020	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2243022	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2243026	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2243029	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2243031	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2243051	0.96[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2243053	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2243057	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2243059	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4380630	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4591731	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[YRI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4703719	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4704365	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6453250	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6453251	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6453253	0.88[CEU][hapmap]
rs66946336	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6880329	0.96[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6887035	0.81[EUR][1000 genomes]
rs6894167	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6897362	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7703930	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7709688	0.96[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv462213	chr5:76067624-76112869	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv598682	chr5:76067624-76112869	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1015997	chr5:76079720-76129241	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1031491	chr5:76083382-76129241	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2763908	chr5:76083394-76134777	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv598683	chr5:76086597-76129053	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv882210	chr5:76086597-76140337	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1022431	chr5:76086795-76127170	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1020397	chr5:76086795-76129241	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv598684	chr5:76086795-76130113	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1025151	chr5:76086795-76134777	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1025061	chr5:76087544-76129241	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1033086	chr5:76088861-76129241	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv1021460	chr5:76089512-76129241	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1018194	chr5:76090951-76129241	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription 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
17	nsv521533	chr5:76092225-76100536	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv598685	chr5:76092225-76128521	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs444403	F2RL1	cis	multi-tissue	Pritchard
rs444403	F2R	cis	Muscle Skeletal	GTEx
rs444403	F2RL1	cis	Esophagus Mucosa	GTEx
rs444403	F2RL1	cis	Whole Blood	GTEx

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76088000-76100000	Weak transcription	HepG2	liver
2	chr5:76088200-76097400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:76088200-76101400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:76091000-76101800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:76095000-76101400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:76095400-76097800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:76095400-76098000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:76095400-76098000	Enhancers	NHEK	skin
9	chr5:76095400-76098200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:76095400-76098200	Enhancers	HMEC	breast
11	chr5:76095400-76099800	Weak transcription	Fetal Intestine Small	intestine
12	chr5:76096000-76097400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:76096000-76098000	Enhancers	Hela-S3	cervix
14	chr5:76096400-76098000	Enhancers	Small Intestine	intestine
15	chr5:76096600-76097800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:76096600-76098000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:76096600-76098000	Enhancers	Right Atrium	heart
18	chr5:76096600-76098000	Enhancers	HUVEC	blood vessel
19	chr5:76096800-76097400	Weak transcription	Left Ventricle	heart
20	chr5:76096800-76098000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:76097000-76097400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:76097000-76097400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:76097000-76097400	Enhancers	Duodenum Mucosa	Duodenum
24	chr5:76097000-76097600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr5:76097000-76097600	Enhancers	Fetal Lung	lung
26	chr5:76097000-76097800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:76097000-76097800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr5:76097000-76098000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:76097000-76098000	Enhancers	NH-A	brain
30	chr5:76097000-76098000	Enhancers	NHLF	lung
31	chr5:76097200-76097400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:76097200-76097400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:76097200-76097400	Flanking Active TSS	Osteobl	bone
34	chr5:76097200-76097600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr5:76097200-76097600	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr5:76097200-76097800	Weak transcription	HSMMtube	muscle
37	chr5:76097200-76097800	Enhancers	NHDF-Ad	bronchial
38	chr5:76097200-76098000	Enhancers	H9 Cell Line	embryonic stem cell
39	chr5:76097200-76098000	Enhancers	Lung	lung
40	chr5:76097200-76098000	Enhancers	Spleen	Spleen
41	chr5:76097200-76098000	Flanking Active TSS	A549	lung
42	chr5:76097200-76098200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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