Variant report

Variant	rs1529505
Chromosome Location	chr5:76114963-76114964
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	chr5:76113078..76116046-chr5:76145704..76148210,2	K562	blood:
2	chr19:796813..797729-chr5:76114268..76115162,3	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-S100Z-1	chr5:76114806-76115096	NONHSAT102251

Variant related genes	Relation type
ENSG00000011304	Chromatin interaction
ENSG00000171643	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10058498	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10059976	0.87[ASN][1000 genomes]
rs12187125	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13162638	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13173178	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2115499	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242995	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243003	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243020	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2243022	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243026	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2243029	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2243031	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2243051	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2243053	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2243057	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2243059	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4380630	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs444403	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4591731	0.96[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703719	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704365	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6453250	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453251	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453253	0.84[CEU][hapmap]
rs66946336	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6880329	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6887035	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6894167	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897362	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703930	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709688	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv882211	chr5:76100536-76125577	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription 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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1529505	F2RL1	cis	Whole Blood	GTEx
rs1529505	F2R	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76114000-76115200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr5:76114000-76116000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:76114000-76116200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr5:76114000-76117000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:76114200-76115000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:76114200-76115000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr5:76114200-76115000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:76114200-76115000	Bivalent/Poised TSS	Fetal Lung	lung
9	chr5:76114200-76115400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
10	chr5:76114200-76116000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
11	chr5:76114200-76116000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:76114200-76116200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:76114200-76116400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr5:76114200-76116800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr5:76114200-76116800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:76114200-76117000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr5:76114200-76117400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr5:76114400-76115000	Bivalent/Poised TSS	HSMMtube	muscle
19	chr5:76114400-76115200	Active TSS	Placenta Amnion	Placenta Amnion
20	chr5:76114400-76115200	Flanking Bivalent TSS/Enh	Thymus	Thymus
21	chr5:76114400-76115200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
22	chr5:76114400-76115400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
23	chr5:76114400-76115400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
24	chr5:76114400-76115600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:76114400-76115600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:76114400-76115600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
27	chr5:76114400-76115600	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
28	chr5:76114400-76115800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:76114400-76115800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
30	chr5:76114400-76115800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr5:76114400-76115800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr5:76114400-76116000	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr5:76114400-76116000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:76114400-76116000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
35	chr5:76114400-76116200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:76114400-76116200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr5:76114400-76116200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:76114400-76116200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr5:76114400-76116200	Active TSS	Gastric	stomach
40	chr5:76114400-76116400	Flanking Active TSS	Liver	Liver
41	chr5:76114400-76117000	Bivalent/Poised TSS	Fetal Kidney	kidney
42	chr5:76114600-76115000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:76114600-76115000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:76114600-76115000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:76114600-76115000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:76114600-76115000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:76114600-76115000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:76114600-76115000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
49	chr5:76114600-76115000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
50	chr5:76114600-76115000	Bivalent/Poised TSS	Esophagus	oesophagus

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