Variant report

Variant	rs2243003
Chromosome Location	chr5:76117065-76117066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:76115218..76117725-chr5:76325993..76327834,2	MCF-7	breast:
2	chr5:76115175..76117196-chr5:76160540..76162682,2	MCF-7	breast:
3	chr5:76110973..76114089-chr5:76116480..76119427,3	K562	blood:

Variant related genes	Relation type
ENSG00000164252	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10058498	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10059976	0.87[ASN][1000 genomes]
rs12187125	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13162638	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13173178	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1529505	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]
rs2115499	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242995	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243020	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2243022	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243026	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2243029	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2243031	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2243051	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2243053	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2243057	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]
rs2243059	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4380630	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs444403	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4591731	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703719	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704365	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6453250	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453251	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453253	0.88[CEU][hapmap]
rs66946336	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6880329	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6887035	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6894167	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703930	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709688	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2243003	F2RL1	cis	Whole Blood	GTEx
rs2243003	F2R	cis	Muscle Skeletal	GTEx
rs2243003	F2RL1	cis	Liver	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76114200-76117400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr5:76114600-76117200	Active TSS	Duodenum Mucosa	Duodenum
3	chr5:76114600-76119200	Weak transcription	Hela-S3	cervix
4	chr5:76114800-76117200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr5:76115000-76117400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:76115400-76117200	Active TSS	Rectal Smooth Muscle	rectum
7	chr5:76115400-76117400	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr5:76115600-76117200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
9	chr5:76115600-76117400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:76115600-76117400	Active TSS	Colonic Mucosa	Colon
11	chr5:76115600-76121200	Weak transcription	Spleen	Spleen
12	chr5:76115800-76117200	Flanking Active TSS	HUVEC	blood vessel
13	chr5:76116000-76117200	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr5:76116000-76117400	Active TSS	Fetal Intestine Large	intestine
15	chr5:76116000-76131600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:76116200-76117200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:76116200-76117200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr5:76116200-76117400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr5:76116200-76117600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:76116200-76120400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:76116200-76126800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:76116400-76118200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:76116400-76118800	Enhancers	HepG2	liver
24	chr5:76116400-76119400	Enhancers	Liver	Liver
25	chr5:76116400-76131600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr5:76116600-76117200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
27	chr5:76116600-76117200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr5:76116600-76117200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:76116600-76117400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr5:76116600-76118000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr5:76116600-76119200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:76116600-76119800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:76116600-76128800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr5:76116800-76117200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:76116800-76117200	Bivalent/Poised TSS	Small Intestine	intestine
36	chr5:76116800-76117200	Flanking Active TSS	HMEC	breast
37	chr5:76116800-76117400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr5:76116800-76117400	Enhancers	Stomach Mucosa	stomach
39	chr5:76116800-76117400	Transcr. at gene 5' and 3'	A549	lung
40	chr5:76116800-76119600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:76116800-76134200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:76117000-76117200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:76117000-76117200	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr5:76117000-76117200	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
45	chr5:76117000-76117200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr5:76117000-76117400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr5:76117000-76117400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr5:76117000-76117400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr5:76117000-76117400	Enhancers	NH-A	brain
50	chr5:76117000-76117400	Flanking Active TSS	NHEK	skin

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