Variant report

Variant	rs4380630
Chromosome Location	chr5:76119712-76119713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10058498	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10059976	0.84[ASN][1000 genomes]
rs12187125	0.93[ASN][1000 genomes]
rs13162638	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13173178	0.84[EUR][1000 genomes]
rs1529505	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2115499	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2242995	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2243003	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2243020	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2243022	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2243026	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2243029	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2243031	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2243051	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2243053	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2243057	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2243059	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs444403	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4591731	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4703719	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4704365	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6453250	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6453251	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66946336	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6880329	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6887035	0.82[ASN][1000 genomes]
rs6894167	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6897362	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7703930	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7709688	0.91[EUR][1000 genomes];0.92[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
rs4380630	F2RL1	cis	Whole Blood	GTEx
rs4380630	F2R	cis	Muscle Skeletal	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76115600-76121200	Weak transcription	Spleen	Spleen
2	chr5:76116000-76131600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:76116200-76120400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:76116200-76126800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:76116400-76131600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr5:76116600-76119800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:76116600-76128800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:76116800-76134200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:76117000-76126600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:76117000-76128600	Weak transcription	NHLF	lung
11	chr5:76117200-76128400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:76117200-76128600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:76117200-76128800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr5:76117400-76121200	Weak transcription	NHEK	skin
15	chr5:76117400-76121400	Weak transcription	HMEC	breast
16	chr5:76117400-76125800	Weak transcription	HUVEC	blood vessel
17	chr5:76117400-76125800	Weak transcription	NH-A	brain
18	chr5:76117400-76126400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:76117400-76126600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:76117400-76128400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:76117400-76130800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:76117400-76134200	Weak transcription	Stomach Mucosa	stomach
23	chr5:76117400-76135200	Weak transcription	Colonic Mucosa	Colon
24	chr5:76117600-76128600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr5:76117800-76126600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:76118400-76120400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:76118600-76122000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:76118600-76122400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:76118800-76120200	Enhancers	Fetal Intestine Large	intestine
30	chr5:76118800-76121000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:76118800-76134600	Weak transcription	HepG2	liver
32	chr5:76119200-76123800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:76119400-76121200	Strong transcription	Fetal Intestine Small	intestine
34	chr5:76119400-76123000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr5:76119400-76128600	Weak transcription	Liver	Liver
36	chr5:76119600-76121000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:76119600-76121000	Weak transcription	A549	lung
38	chr5:76119600-76121800	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr5:76119600-76122400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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