Variant report

Variant	rs250764
Chromosome Location	chr5:76082956-76082957
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10067774	0.95[ASN][1000 genomes]
rs13166089	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13179180	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs166175	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1673073	0.95[ASN][1000 genomes]
rs185156	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2243010	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs250754	0.95[ASN][1000 genomes]
rs250755	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs250756	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs250763	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250765	0.92[ASN][1000 genomes]
rs3135471	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs429332	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs458380	0.99[AMR][1000 genomes];0.99[EUR][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	nsv462213	chr5:76067624-76112869	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv598682	chr5:76067624-76112869	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs250764	F2R	cis	Muscle Skeletal	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76075600-76084200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:76076000-76083000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:76076000-76084200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:76077800-76085800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:76078200-76084200	Enhancers	HUVEC	blood vessel
6	chr5:76079000-76083400	Weak transcription	Spleen	Spleen
7	chr5:76079000-76084200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr5:76079800-76083000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:76079800-76084000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:76080200-76084600	Enhancers	Fetal Intestine Large	intestine
11	chr5:76080400-76086800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:76080600-76083000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:76080600-76086800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:76080800-76085800	Weak transcription	Small Intestine	intestine
15	chr5:76080800-76086600	Weak transcription	Colonic Mucosa	Colon
16	chr5:76081600-76083000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:76081600-76088800	Enhancers	Stomach Mucosa	stomach
18	chr5:76081800-76083000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:76081800-76083000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:76081800-76083000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:76081800-76083000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:76081800-76083000	Enhancers	A549	lung
23	chr5:76081800-76083000	Weak transcription	HMEC	breast
24	chr5:76081800-76083000	Weak transcription	HSMM	muscle
25	chr5:76081800-76083200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:76081800-76084200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:76081800-76085400	Weak transcription	NHEK	skin
28	chr5:76081800-76085600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:76081800-76086200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:76082000-76083000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr5:76082000-76085400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:76082000-76085600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:76082200-76083600	Weak transcription	Pancreas	Pancrea
34	chr5:76082200-76084200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr5:76082600-76083600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:76082600-76084400	Enhancers	NH-A	brain
37	chr5:76082600-76084600	Enhancers	Fetal Intestine Small	intestine
38	chr5:76082800-76083000	Weak transcription	K562	blood
39	chr5:76082800-76083200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr5:76082800-76083200	Enhancers	HSMMtube	muscle
41	chr5:76082800-76083400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:76082800-76083600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:76082800-76083800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:76082800-76083800	Enhancers	NHDF-Ad	bronchial
45	chr5:76082800-76084400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:76082800-76084400	Enhancers	Fetal Muscle Leg	muscle
47	chr5:76082800-76084400	Enhancers	HepG2	liver
48	chr5:76082800-76084400	Enhancers	Osteobl	bone
49	chr5:76082800-76084600	Enhancers	Duodenum Mucosa	Duodenum
50	chr5:76082800-76084600	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links