Variant report

Variant	rs6465750
Chromosome Location	chr7:99235522-99235523
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99223092..99225778-chr7:99231932..99235796,4	K562	blood:
2	chr7:99233858..99235993-chr7:99264652..99267032,2	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10211	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10227637	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10229552	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10238028	0.91[AMR][1000 genomes]
rs10238965	0.84[JPT][hapmap]
rs10242455	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10254729	0.84[JPT][hapmap]
rs10258552	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10282706	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11772470	0.84[JPT][hapmap]
rs12333599	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12334072	0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12334077	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12360	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13362853	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1357319	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1403196	0.89[ASN][1000 genomes]
rs1419745	0.90[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs15524	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17161774	0.90[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs17161780	0.85[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs17161783	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs1818797	0.89[ASN][1000 genomes]
rs1851425	0.89[ASN][1000 genomes]
rs1859690	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1879859	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2037497	0.86[ASN][1000 genomes]
rs2037498	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2037499	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2090949	0.86[ASN][1000 genomes]
rs2140128	0.86[ASN][1000 genomes]
rs2177180	0.89[ASN][1000 genomes]
rs2222411	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2257401	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2404769	0.86[ASN][1000 genomes]
rs2404770	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2687072	0.86[ASN][1000 genomes]
rs2687075	0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs2687076	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2687077	0.89[ASN][1000 genomes]
rs2687078	0.89[ASN][1000 genomes]
rs2687079	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2687081	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2687084	0.89[ASN][1000 genomes]
rs2687085	0.89[ASN][1000 genomes]
rs2687086	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2687087	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2687133	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2687134	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2687135	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2687136	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2687137	0.86[ASN][1000 genomes]
rs2687139	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2687140	0.87[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2687141	0.86[ASN][1000 genomes]
rs2687142	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2687143	0.86[ASN][1000 genomes]
rs2687144	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2687145	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2740558	0.86[ASN][1000 genomes]
rs2740559	0.86[ASN][1000 genomes]
rs2740560	0.86[ASN][1000 genomes]
rs2740561	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2740562	0.85[ASN][1000 genomes]
rs2740563	0.88[ASN][1000 genomes]
rs2740565	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2741872	0.84[ASN][1000 genomes]
rs2948343	0.89[ASN][1000 genomes]
rs2948344	0.89[ASN][1000 genomes]
rs3735453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3779354	1.00[CEU][hapmap]
rs3800960	0.82[JPT][hapmap]
rs3823812	0.83[ASN][1000 genomes]
rs45624139	0.86[ASN][1000 genomes]
rs4646446	0.85[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs4646447	0.90[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs4646449	0.90[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs4646450	0.95[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs4646453	0.90[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs4646456	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs4646457	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4646458	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs4646461	0.84[ASN][1000 genomes]
rs4646465	0.89[ASN][1000 genomes]
rs55852703	0.86[ASN][1000 genomes]
rs58024720	0.84[ASN][1000 genomes]
rs58649180	0.84[ASN][1000 genomes]
rs60865030	0.85[ASN][1000 genomes]
rs6961634	0.84[JPT][hapmap]
rs72494455	0.84[ASN][1000 genomes]
rs73410654	0.86[ASN][1000 genomes]
rs776741	0.85[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs776742	0.91[ASN][1000 genomes]
rs776744	0.91[ASN][1000 genomes]
rs776745	0.91[ASN][1000 genomes]
rs776746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7780328	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7798931	0.82[ASN][1000 genomes]
rs7808022	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs868564	1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.85[EUR][1000 genomes]
rs9769359	0.83[AMR][1000 genomes];0.81[ASN][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
rs6465750	CYP3A5	cis	normal skin	skin_eQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99215000-99236000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:99224000-99241800	Weak transcription	HSMMtube	muscle
3	chr7:99225400-99243000	Weak transcription	Fetal Brain Male	brain
4	chr7:99225800-99241800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:99228200-99244200	Weak transcription	Psoas Muscle	Psoas
6	chr7:99228400-99236000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:99228400-99258000	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:99228400-99258800	Weak transcription	Ovary	ovary
9	chr7:99228800-99249000	Weak transcription	Small Intestine	intestine
10	chr7:99229000-99235800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:99229200-99241600	Weak transcription	Brain Angular Gyrus	brain
12	chr7:99229200-99242000	Weak transcription	NHDF-Ad	bronchial
13	chr7:99229200-99243200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:99229200-99267400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:99229200-99275000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:99229400-99236000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:99229400-99236800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:99229400-99257400	Weak transcription	Fetal Lung	lung
19	chr7:99229400-99257800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:99229600-99236200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:99229800-99235600	Weak transcription	Right Ventricle	heart
22	chr7:99229800-99235800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:99229800-99235800	Weak transcription	HSMM	muscle
24	chr7:99229800-99236000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:99229800-99241200	Weak transcription	Aorta	Aorta
26	chr7:99229800-99255400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr7:99229800-99257200	Weak transcription	Esophagus	oesophagus
28	chr7:99229800-99257600	Weak transcription	Pancreas	Pancrea
29	chr7:99229800-99260200	Weak transcription	Left Ventricle	heart
30	chr7:99229800-99272600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr7:99230000-99236000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:99230200-99236200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:99230200-99236200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:99230200-99243000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:99230200-99257200	Weak transcription	Gastric	stomach
36	chr7:99230400-99241800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:99230400-99243800	Weak transcription	NHLF	lung
38	chr7:99230400-99249000	Weak transcription	Colonic Mucosa	Colon
39	chr7:99230400-99257600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:99230400-99272000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:99230600-99243400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:99230800-99241600	Weak transcription	Liver	Liver
43	chr7:99230800-99243200	Weak transcription	Thymus	Thymus
44	chr7:99230800-99258000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:99231400-99241200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr7:99231400-99248800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:99231600-99236600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:99231600-99237000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr7:99231600-99241400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:99231600-99252400	Weak transcription	Monocytes-CD14+_RO01746	blood

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