Variant report

Variant	rs37250
Chromosome Location	chr5:76019316-76019317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:76009018..76015131-chr5:76017344..76021190,10	K562	blood:
2	chr5:76011844..76018485-chr5:76019035..76024574,8	K562	blood:
3	chr5:76015491..76019327-chr5:76037164..76040900,3	K562	blood:
4	chr5:75964145..75966782-chr5:76017309..76019547,2	K562	blood:
5	chr5:76015537..76017446-chr5:76018404..76021830,3	K562	blood:

Variant related genes	Relation type
ENSG00000225407	Chromatin interaction
ENSG00000145703	Chromatin interaction
ENSG00000181104	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs153310	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs193943	0.80[ASN][1000 genomes]
rs250716	0.80[ASN][1000 genomes]
rs250717	0.81[ASN][1000 genomes]
rs250719	0.81[ASN][1000 genomes]
rs250730	0.90[ASN][1000 genomes]
rs250731	0.91[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs250739	0.83[ASN][1000 genomes]
rs250741	0.84[ASN][1000 genomes]
rs250742	0.85[ASN][1000 genomes]
rs250744	0.85[ASN][1000 genomes]
rs250745	0.85[ASN][1000 genomes]
rs250746	0.85[ASN][1000 genomes]
rs250747	0.83[ASN][1000 genomes]
rs250748	0.85[ASN][1000 genomes]
rs250750	0.85[ASN][1000 genomes]
rs250751	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs250752	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs253072	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs253073	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs705402	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv882207	chr5:75997213-76027823	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882208	chr5:75997213-76034355	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv882209	chr5:76004933-76034355	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	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
rs37250	F2RL1	cis	parietal	SCAN
rs37250	F2R	cis	lung	GTEx
rs37250	F2R	cis	Muscle Skeletal	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76013000-76028400	Weak transcription	Aorta	Aorta
2	chr5:76013000-76032000	Weak transcription	HSMM	muscle
3	chr5:76013000-76033000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:76013400-76020000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:76013800-76020000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:76013800-76020400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:76013800-76023000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:76013800-76023200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr5:76013800-76028400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:76013800-76030800	Weak transcription	Ovary	ovary
11	chr5:76014000-76020200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:76014000-76020600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:76014000-76022600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:76014000-76022600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:76014000-76023200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:76014000-76028400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:76014200-76019600	Weak transcription	A549	lung
18	chr5:76014200-76021200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:76014200-76023800	Weak transcription	Adipose Nuclei	Adipose
20	chr5:76014200-76024200	Weak transcription	Fetal Intestine Large	intestine
21	chr5:76014400-76020400	Weak transcription	HepG2	liver
22	chr5:76014400-76020400	Weak transcription	HMEC	breast
23	chr5:76014400-76022200	Weak transcription	Brain Germinal Matrix	brain
24	chr5:76014400-76023200	Weak transcription	Fetal Kidney	kidney
25	chr5:76014400-76024800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:76014400-76025400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:76014400-76025400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr5:76014600-76020200	Weak transcription	NHEK	skin
29	chr5:76014800-76019400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:76014800-76020200	Weak transcription	Osteobl	bone
31	chr5:76014800-76022400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:76015000-76020200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:76015000-76022600	Weak transcription	Fetal Lung	lung
34	chr5:76015000-76023000	Weak transcription	Fetal Brain Male	brain
35	chr5:76015400-76020400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:76015600-76020200	Enhancers	Duodenum Mucosa	Duodenum
37	chr5:76015800-76022600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:76016000-76019400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:76016400-76020000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:76016800-76023800	Weak transcription	Fetal Intestine Small	intestine
41	chr5:76017000-76020800	Weak transcription	Small Intestine	intestine
42	chr5:76017000-76023000	Weak transcription	Fetal Muscle Leg	muscle
43	chr5:76017000-76028400	Weak transcription	Spleen	Spleen
44	chr5:76017400-76021400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:76017400-76022400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr5:76017400-76022600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr5:76017800-76022400	Weak transcription	Fetal Brain Female	brain
48	chr5:76018000-76021000	Genic enhancers	HUVEC	blood vessel
49	chr5:76018200-76020800	Weak transcription	K562	blood
50	chr5:76018200-76021200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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