Variant report

Variant	rs4646449
Chromosome Location	chr7:99266443-99266444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99261684..99264974-chr7:99265546..99269514,5	K562	blood:
2	chr7:99264944..99267276-chr7:99275938..99277761,3	K562	blood:
3	chr7:99233858..99235993-chr7:99264652..99267032,2	K562	blood:
4	chr7:99265340..99268493-chr7:99275691..99278651,3	K562	blood:

Variant related genes	Relation type
ENSG00000106258	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10211	0.85[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs10225314	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[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	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161772	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161774	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17161780	0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17161783	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]
rs1818797	0.80[ASN][1000 genomes]
rs1851425	0.80[ASN][1000 genomes]
rs1851427	0.95[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];0.96[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3823812	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41301658	0.91[AFR][1000 genomes]
rs45442295	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs45460091	0.91[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	0.95[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[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[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[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[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]
rs4646453	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]
rs4646456	1.00[ASW][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];0.85[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[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4646462	0.93[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	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs60301933	0.82[AMR][1000 genomes]
rs60865030	0.95[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	0.93[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	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72494456	0.88[ASN][1000 genomes]
rs72494458	0.89[AFR][1000 genomes]
rs776741	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];0.83[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
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
rs4646449	BUD31	cis	lymphoblastoid	seeQTL

Chromatin state (count:53 , 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	chr7:99231800-99268000	Weak transcription	Brain Anterior Caudate	brain
6	chr7:99231800-99268600	Weak transcription	HepG2	liver
7	chr7:99232000-99275000	Weak transcription	A549	lung
8	chr7:99235800-99276400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:99237000-99272200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:99241000-99268800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr7:99242400-99272400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr7:99242800-99267600	Weak transcription	GM12878-XiMat	blood
13	chr7:99243000-99278800	Weak transcription	Brain Angular Gyrus	brain
14	chr7:99243200-99267600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:99243600-99276800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:99247800-99266800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:99251600-99276400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:99254400-99275400	Weak transcription	Fetal Stomach	stomach
19	chr7:99255800-99277000	Weak transcription	Fetal Brain Male	brain
20	chr7:99256600-99270200	Strong transcription	Duodenum Mucosa	Duodenum
21	chr7:99257200-99274600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr7:99257400-99274600	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr7:99257800-99271400	Weak transcription	Fetal Thymus	thymus
24	chr7:99258400-99276400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:99258600-99267000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:99258600-99274400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:99258600-99274800	Weak transcription	Lung	lung
28	chr7:99258600-99276600	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:99259000-99271800	Weak transcription	Ovary	ovary
30	chr7:99259200-99266600	Strong transcription	Fetal Lung	lung
31	chr7:99259200-99270200	Strong transcription	Fetal Intestine Large	intestine
32	chr7:99259200-99271800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr7:99259600-99268200	Weak transcription	Primary B cells from cord blood	blood
34	chr7:99260200-99277000	Weak transcription	Spleen	Spleen
35	chr7:99260600-99276600	Weak transcription	Adipose Nuclei	Adipose
36	chr7:99260600-99276800	Weak transcription	Left Ventricle	heart
37	chr7:99261200-99273600	Weak transcription	Gastric	stomach
38	chr7:99261200-99274400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:99261400-99272200	Weak transcription	Primary T cells from cord blood	blood
40	chr7:99261400-99277000	Weak transcription	Small Intestine	intestine
41	chr7:99262200-99272000	Strong transcription	Liver	Liver
42	chr7:99263400-99273000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:99263600-99269400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:99263600-99277400	Weak transcription	Aorta	Aorta
45	chr7:99264000-99270200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr7:99264400-99270200	Weak transcription	Esophagus	oesophagus
47	chr7:99264400-99273400	Weak transcription	Stomach Mucosa	stomach
48	chr7:99264600-99269200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:99264600-99270600	Weak transcription	Colonic Mucosa	Colon
50	chr7:99264600-99273400	Weak transcription	Rectal Smooth Muscle	rectum

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