Variant report

Variant	rs250763
Chromosome Location	chr5:76086597-76086598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10067774	0.94[ASN][1000 genomes]
rs13166089	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13179180	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs166175	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1673073	0.94[ASN][1000 genomes]
rs185156	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2243010	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs250754	0.94[ASN][1000 genomes]
rs250755	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs250756	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs250764	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250765	0.91[ASN][1000 genomes]
rs3135471	0.84[EUR][1000 genomes]
rs429332	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs458380	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
6	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
7	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
8	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
9	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs250763	DMGDH	cis	cerebellum	SCAN
rs250763	F2R	cis	Muscle Skeletal	GTEx
rs250763	F2RL1	cis	parietal	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76080400-76086800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:76080600-76086800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:76080800-76086600	Weak transcription	Colonic Mucosa	Colon
4	chr5:76081600-76088800	Enhancers	Stomach Mucosa	stomach
5	chr5:76083000-76087800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr5:76083400-76086600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:76083400-76086600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:76083400-76089200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:76083600-76086600	Weak transcription	Aorta	Aorta
10	chr5:76084000-76088200	Enhancers	Fetal Lung	lung
11	chr5:76084200-76088200	Enhancers	Fetal Stomach	stomach
12	chr5:76084200-76088400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:76084400-76086800	Weak transcription	Pancreas	Pancrea
14	chr5:76084600-76087400	Weak transcription	Liver	Liver
15	chr5:76085200-76087600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:76085200-76088000	Enhancers	NHLF	lung
17	chr5:76085400-76087800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr5:76085400-76088000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:76085400-76088000	Enhancers	Adipose Nuclei	Adipose
20	chr5:76085400-76088000	Enhancers	Spleen	Spleen
21	chr5:76085400-76088200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:76085400-76088200	Enhancers	HMEC	breast
23	chr5:76085600-76087200	Flanking Active TSS	A549	lung
24	chr5:76085600-76087800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:76085600-76088000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:76085600-76088000	Enhancers	Brain Hippocampus Middle	brain
27	chr5:76085600-76088200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:76085600-76088200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:76085600-76088400	Enhancers	Fetal Muscle Leg	muscle
30	chr5:76085600-76090400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:76085800-76086800	Enhancers	Placenta	Placenta
32	chr5:76085800-76086800	Enhancers	HSMM	muscle
33	chr5:76085800-76087000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:76085800-76087000	Flanking Active TSS	NHEK	skin
35	chr5:76085800-76087200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:76085800-76087200	Enhancers	Esophagus	oesophagus
37	chr5:76085800-76087200	Enhancers	Right Atrium	heart
38	chr5:76085800-76087200	Enhancers	K562	blood
39	chr5:76085800-76087800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:76085800-76087800	Enhancers	Fetal Intestine Small	intestine
41	chr5:76085800-76087800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr5:76085800-76087800	Enhancers	Small Intestine	intestine
43	chr5:76085800-76088000	Enhancers	Duodenum Mucosa	Duodenum
44	chr5:76085800-76088200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr5:76085800-76088800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:76086000-76086600	Flanking Active TSS	NHDF-Ad	bronchial
47	chr5:76086000-76086800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:76086000-76086800	Weak transcription	Gastric	stomach
49	chr5:76086000-76087000	Weak transcription	Left Ventricle	heart
50	chr5:76086000-76087000	Enhancers	NH-A	brain

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