Variant report

Variant	rs2243057
Chromosome Location	chr5:76127135-76127136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:76123012..76125302-chr5:76125595..76128318,2	MCF-7	breast:
2	chr5:76127088..76128697-chr5:76136604..76139100,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10058498	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10059976	0.90[ASN][1000 genomes]
rs11952623	0.82[ASN][1000 genomes]
rs12187125	0.91[ASN][1000 genomes]
rs13162638	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13173178	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1529505	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]
rs2115499	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2242995	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2243003	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2243020	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2243022	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2243026	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2243029	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2243031	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2243051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243053	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243059	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4380630	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs444403	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4591731	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4703719	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4704365	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6453250	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6453251	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6453253	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs66946336	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6880329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6887035	0.84[ASN][1000 genomes]
rs6894167	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6897362	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7703930	0.96[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7709688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2243057	F2RL1	cis	multi-tissue	Pritchard
rs2243057	F2R	cis	Muscle Skeletal	GTEx
rs2243057	F2RL1	cis	Whole Blood	GTEx

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76116000-76131600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:76116400-76131600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr5:76116600-76128800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:76116800-76134200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:76117000-76128600	Weak transcription	NHLF	lung
6	chr5:76117200-76128400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr5:76117200-76128600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:76117200-76128800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr5:76117400-76128400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:76117400-76130800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:76117400-76134200	Weak transcription	Stomach Mucosa	stomach
12	chr5:76117400-76135200	Weak transcription	Colonic Mucosa	Colon
13	chr5:76117600-76128600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:76118800-76134600	Weak transcription	HepG2	liver
15	chr5:76119400-76128600	Weak transcription	Liver	Liver
16	chr5:76121800-76128600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:76123000-76132400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:76123600-76132400	Strong transcription	Fetal Intestine Small	intestine
19	chr5:76124600-76129200	Weak transcription	Esophagus	oesophagus
20	chr5:76125200-76127200	Enhancers	A549	lung
21	chr5:76125400-76127200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:76125400-76128800	Weak transcription	Brain Anterior Caudate	brain
23	chr5:76125800-76127200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:76125800-76127400	Enhancers	NH-A	brain
25	chr5:76125800-76128200	Enhancers	HUVEC	blood vessel
26	chr5:76126000-76128600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr5:76126000-76128600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:76126000-76130800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr5:76126000-76132800	Weak transcription	Aorta	Aorta
30	chr5:76126200-76128600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr5:76126400-76127200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr5:76126400-76127200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:76126400-76127200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:76126400-76127400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:76126400-76127400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:76126400-76127400	Enhancers	HMEC	breast
37	chr5:76126400-76127400	Enhancers	Osteobl	bone
38	chr5:76126400-76127600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:76126400-76127600	Enhancers	NHEK	skin
40	chr5:76126600-76127200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr5:76126600-76127200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr5:76126600-76127200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr5:76126600-76127200	Enhancers	GM12878-XiMat	blood
44	chr5:76126600-76127400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr5:76126600-76128600	Weak transcription	Primary T cells from cord blood	blood
46	chr5:76126600-76128600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:76126800-76127200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:76126800-76127200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:76126800-76127200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr5:76126800-76127200	Enhancers	Gastric	stomach

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