Variant report

Variant	rs4646453
Chromosome Location	chr7:99260362-99260363
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99154663..99157648-chr7:99258389..99261755,3	K562	blood:
2	chr7:99256740..99260670-chr7:99260944..99264080,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197343	Chromatin interaction
ENSG00000272647	Chromatin interaction
ENSG00000106258	Chromatin interaction
ENSG00000221909	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10211	0.85[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs10225314	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes]
rs10229552	0.83[ASN][1000 genomes]
rs10242455	0.90[CHB][hapmap];0.82[CHD][hapmap];0.83[ASN][1000 genomes]
rs10282706	0.85[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs10464604	0.92[EUR][1000 genomes]
rs11539770	0.92[EUR][1000 genomes]
rs12334072	0.80[ASN][1000 genomes]
rs12334077	0.82[ASN][1000 genomes]
rs12360	0.85[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs13362853	0.81[ASN][1000 genomes]
rs1357319	0.85[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs1403196	0.80[ASN][1000 genomes]
rs1419745	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]
rs15524	0.90[CHB][hapmap];0.82[CHD][hapmap];0.83[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	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161772	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17161780	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17161783	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]
rs1818797	0.80[ASN][1000 genomes]
rs1851425	0.80[ASN][1000 genomes]
rs1851427	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1859690	0.90[CHB][hapmap];0.82[CHD][hapmap];0.80[ASN][1000 genomes]
rs1879859	0.85[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs2005548	0.82[ASN][1000 genomes]
rs2037498	0.85[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap]
rs2037499	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2177180	0.80[ASN][1000 genomes]
rs2222411	0.85[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs2240385	0.92[EUR][1000 genomes]
rs2257401	0.85[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs2404770	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2687075	0.85[CHB][hapmap];0.84[CHD][hapmap];0.83[JPT][hapmap]
rs2687076	0.85[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs2687077	0.80[ASN][1000 genomes]
rs2687078	0.80[ASN][1000 genomes]
rs2687079	0.85[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs2687081	0.88[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs2687084	0.80[ASN][1000 genomes]
rs2687085	0.80[ASN][1000 genomes]
rs2687086	0.85[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs2687087	0.85[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs2687133	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2687134	0.85[CHB][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap]
rs2687136	0.85[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs2687139	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2687140	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs2687142	0.90[CHB][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap]
rs2687144	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2687145	0.85[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs2740561	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs2740565	0.85[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs2948343	0.80[ASN][1000 genomes]
rs2948344	0.80[ASN][1000 genomes]
rs3735453	0.90[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs3800960	0.82[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3823812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41301658	0.81[AFR][1000 genomes]
rs45442295	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs45460091	0.81[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];0.90[ASN][1000 genomes]
rs45622743	0.92[EUR][1000 genomes]
rs4646440	0.85[AFR][1000 genomes]
rs4646446	1.00[ASW][hapmap];0.95[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];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4646447	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];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646449	1.00[ASW][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];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646450	0.85[CHB][hapmap];0.84[CHD][hapmap];0.83[ASN][1000 genomes]
rs4646456	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];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4646457	0.90[CHB][hapmap];0.82[CHD][hapmap];0.83[ASN][1000 genomes]
rs4646458	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]
rs4646462	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4646465	0.80[ASN][1000 genomes]
rs58024720	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58222677	0.92[EUR][1000 genomes]
rs59172435	0.88[ASN][1000 genomes]
rs60298785	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs60301933	0.82[AMR][1000 genomes]
rs60865030	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61159815	0.92[EUR][1000 genomes]
rs61337492	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61402640	0.92[EUR][1000 genomes]
rs61543997	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61593387	0.88[ASN][1000 genomes]
rs6465750	0.90[CHB][hapmap];0.88[JPT][hapmap];0.84[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];0.94[ASN][1000 genomes]
rs72494454	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72494456	0.88[ASN][1000 genomes]
rs776741	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs776742	0.82[ASN][1000 genomes]
rs776744	0.82[ASN][1000 genomes]
rs776745	0.82[ASN][1000 genomes]
rs776746	0.90[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs7798931	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7808022	0.90[CHB][hapmap];0.82[CHD][hapmap];0.80[ASN][1000 genomes]
rs8175345	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs8175346	0.82[EUR][1000 genomes]
rs939955	0.88[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
rs4646453	BUD31	cis	lymphoblastoid	seeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99229200-99267400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:99229200-99275000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:99229800-99272600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:99230400-99272000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr7:99231800-99264600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:99231800-99268000	Weak transcription	Brain Anterior Caudate	brain
7	chr7:99231800-99268600	Weak transcription	HepG2	liver
8	chr7:99232000-99275000	Weak transcription	A549	lung
9	chr7:99233000-99266000	Weak transcription	NHEK	skin
10	chr7:99235800-99276400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:99236800-99260400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:99236800-99263000	Weak transcription	Placenta	Placenta
13	chr7:99237000-99272200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr7:99237200-99264800	Weak transcription	Right Ventricle	heart
15	chr7:99241000-99268800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr7:99241600-99264600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:99242200-99261400	Weak transcription	HSMMtube	muscle
18	chr7:99242400-99272400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:99242800-99261000	Weak transcription	Aorta	Aorta
20	chr7:99242800-99267600	Weak transcription	GM12878-XiMat	blood
21	chr7:99243000-99278800	Weak transcription	Brain Angular Gyrus	brain
22	chr7:99243200-99267600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:99243600-99276800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:99247800-99266800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:99251600-99264000	Weak transcription	Psoas Muscle	Psoas
26	chr7:99251600-99276400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:99254400-99275400	Weak transcription	Fetal Stomach	stomach
28	chr7:99255800-99277000	Weak transcription	Fetal Brain Male	brain
29	chr7:99256200-99263400	Weak transcription	HSMM	muscle
30	chr7:99256600-99270200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr7:99257200-99261200	Strong transcription	Gastric	stomach
32	chr7:99257200-99274600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr7:99257400-99274600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr7:99257600-99260600	Strong transcription	Adipose Nuclei	Adipose
35	chr7:99257600-99260600	Strong transcription	Rectal Smooth Muscle	rectum
36	chr7:99257600-99262000	Strong transcription	Pancreas	Pancrea
37	chr7:99257800-99260400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:99257800-99263600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:99257800-99271400	Weak transcription	Fetal Thymus	thymus
40	chr7:99258000-99260600	ZNF genes & repeats	Stomach Mucosa	stomach
41	chr7:99258000-99261200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:99258400-99276400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:99258600-99260600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:99258600-99261600	Strong transcription	Esophagus	oesophagus
45	chr7:99258600-99265800	Weak transcription	Brain Substantia Nigra	brain
46	chr7:99258600-99267000	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:99258600-99274400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:99258600-99274800	Weak transcription	Lung	lung
49	chr7:99258600-99276600	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:99258800-99260800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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