Variant report

Variant	rs17161783
Chromosome Location	chr7:99238342-99238343
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10211	0.85[CHB][hapmap];0.81[CHD][hapmap]
rs10225314	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes]
rs10227637	0.82[ASN][1000 genomes]
rs10242455	0.90[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs10258552	0.84[ASN][1000 genomes]
rs10282706	0.85[CHB][hapmap]
rs10464604	0.92[EUR][1000 genomes]
rs11539770	0.92[EUR][1000 genomes]
rs12334072	0.84[ASN][1000 genomes]
rs12334077	0.86[ASN][1000 genomes]
rs12360	0.85[CHB][hapmap]
rs1357319	0.85[CHB][hapmap];0.81[CHD][hapmap]
rs1419745	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs15524	0.90[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs17161766	0.84[EUR][1000 genomes]
rs17161768	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161769	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161771	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161772	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161774	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17161780	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1851427	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1859690	0.90[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs1879859	0.85[CHB][hapmap];0.81[CHD][hapmap]
rs1985453	0.92[EUR][1000 genomes]
rs2037498	0.85[CHB][hapmap]
rs2037499	0.85[CHB][hapmap]
rs2222411	0.85[CHB][hapmap];0.81[CHD][hapmap]
rs2240385	0.92[EUR][1000 genomes]
rs2257401	0.85[CHB][hapmap]
rs2404770	0.85[CHB][hapmap]
rs2687075	0.85[CHB][hapmap]
rs2687076	0.85[CHB][hapmap];0.81[CHD][hapmap]
rs2687079	0.85[CHB][hapmap];0.81[CHD][hapmap]
rs2687081	0.88[CHB][hapmap];0.83[CHD][hapmap]
rs2687086	0.85[CHB][hapmap]
rs2687087	0.85[CHB][hapmap];0.81[CHD][hapmap]
rs2687133	0.85[CHB][hapmap]
rs2687134	0.85[CHB][hapmap]
rs2687136	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs2687139	0.85[CHB][hapmap]
rs2687140	0.80[CHB][hapmap]
rs2687142	0.90[CHB][hapmap]
rs2687144	0.85[CHB][hapmap]
rs2687145	0.85[CHB][hapmap];0.81[CHD][hapmap]
rs2740561	0.84[CHB][hapmap]
rs2740565	0.85[CHB][hapmap];0.81[CHD][hapmap]
rs3735453	0.90[CHB][hapmap];0.80[CHD][hapmap]
rs3764815	0.92[EUR][1000 genomes]
rs3779354	0.82[GIH][hapmap]
rs3800960	0.82[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3823812	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41301658	0.84[AFR][1000 genomes]
rs45442295	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs45460091	0.93[AFR][1000 genomes]
rs45492098	0.92[EUR][1000 genomes]
rs45540134	0.92[EUR][1000 genomes]
rs45600842	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs45622743	0.92[EUR][1000 genomes]
rs4646440	0.93[AFR][1000 genomes]
rs4646446	1.00[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4646447	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4646449	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4646450	0.85[CHB][hapmap]
rs4646453	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4646456	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646457	0.90[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs4646458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646462	0.95[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs58024720	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58222677	0.92[EUR][1000 genomes]
rs59172435	0.84[ASN][1000 genomes]
rs59986060	0.92[EUR][1000 genomes]
rs60298785	0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs60301933	0.82[AMR][1000 genomes]
rs60865030	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61159815	0.92[EUR][1000 genomes]
rs61337492	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61402640	0.92[EUR][1000 genomes]
rs61543997	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61593387	0.84[ASN][1000 genomes]
rs6465750	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs72494451	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72494452	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72494453	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72494454	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72494456	0.84[ASN][1000 genomes]
rs72494458	0.91[AFR][1000 genomes]
rs776741	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776746	0.90[CHB][hapmap];0.81[CHD][hapmap];0.83[ASN][1000 genomes]
rs7780328	0.81[ASN][1000 genomes]
rs7798931	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7808022	0.90[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs8175345	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs8175346	0.82[EUR][1000 genomes]
rs939955	0.84[ASN][1000 genomes]
rs940336	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17161783	BUD31	cis	lymphoblastoid	seeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99224000-99241800	Weak transcription	HSMMtube	muscle
2	chr7:99225400-99243000	Weak transcription	Fetal Brain Male	brain
3	chr7:99225800-99241800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:99228200-99244200	Weak transcription	Psoas Muscle	Psoas
5	chr7:99228400-99258000	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:99228400-99258800	Weak transcription	Ovary	ovary
7	chr7:99228800-99249000	Weak transcription	Small Intestine	intestine
8	chr7:99229200-99241600	Weak transcription	Brain Angular Gyrus	brain
9	chr7:99229200-99242000	Weak transcription	NHDF-Ad	bronchial
10	chr7:99229200-99243200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:99229200-99267400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:99229200-99275000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:99229400-99257400	Weak transcription	Fetal Lung	lung
14	chr7:99229400-99257800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:99229800-99241200	Weak transcription	Aorta	Aorta
16	chr7:99229800-99255400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr7:99229800-99257200	Weak transcription	Esophagus	oesophagus
18	chr7:99229800-99257600	Weak transcription	Pancreas	Pancrea
19	chr7:99229800-99260200	Weak transcription	Left Ventricle	heart
20	chr7:99229800-99272600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr7:99230200-99243000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:99230200-99257200	Weak transcription	Gastric	stomach
23	chr7:99230400-99241800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:99230400-99243800	Weak transcription	NHLF	lung
25	chr7:99230400-99249000	Weak transcription	Colonic Mucosa	Colon
26	chr7:99230400-99257600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:99230400-99272000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:99230600-99243400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:99230800-99241600	Weak transcription	Liver	Liver
30	chr7:99230800-99243200	Weak transcription	Thymus	Thymus
31	chr7:99230800-99258000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:99231400-99241200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:99231400-99248800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:99231600-99241400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:99231600-99252400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr7:99231800-99241000	Weak transcription	Fetal Brain Female	brain
37	chr7:99231800-99241200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:99231800-99241200	Weak transcription	Adipose Nuclei	Adipose
39	chr7:99231800-99242600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:99231800-99243000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:99231800-99245000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr7:99231800-99246600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:99231800-99247400	Weak transcription	Brain Hippocampus Middle	brain
44	chr7:99231800-99247800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:99231800-99250000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:99231800-99258000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:99231800-99258000	Weak transcription	Brain Substantia Nigra	brain
48	chr7:99231800-99260200	Weak transcription	K562	blood
49	chr7:99231800-99264600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:99231800-99268000	Weak transcription	Brain Anterior Caudate	brain

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