Variant report

Variant	rs41269038
Chromosome Location	chr6:34263564-34263565
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34261986..34267851-chr6:34269330..34272911,9	K562	blood:
2	chr6:34262225..34265045-chr6:34266800..34268628,2	K562	blood:
3	chr6:34254295..34258176-chr6:34263352..34265255,3	K562	blood:
4	chr6:34263488..34269053-chr6:34269608..34275567,7	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10484267	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10484268	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1057691	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1060308	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10648	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1127084	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1265	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12654	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13466	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16883137	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16883475	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883896	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16888452	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17628798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17628946	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17629180	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17629270	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17696583	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17696774	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17696829	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1994923	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs206922	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3798554	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3798557	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs41269032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269034	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269036	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4713771	0.88[EUR][1000 genomes]
rs4713782	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55674397	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55684754	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55694290	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55763242	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55779010	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55798596	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55812200	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55833185	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55863933	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55864834	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56033036	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56039915	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56107559	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56188036	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56274913	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56309550	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56323997	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56330729	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59832183	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62399870	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457775	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6911272	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7738665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7760373	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7770443	0.83[EUR][1000 genomes]
rs875274	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368811	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462903	chr6:34110257-34263743	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv602863	chr6:34110257-34263743	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv1798756	chr6:34203406-34319041	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	esv1798835	chr6:34204183-34319041	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	esv1792088	chr6:34204285-34318837	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv1793127	chr6:34204285-34319041	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41269038	NUDT3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34240600-34269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:34244400-34273400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:34246000-34264400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:34246600-34264000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:34246600-34264000	Strong transcription	Dnd41	blood
6	chr6:34251000-34283200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:34253600-34271200	Weak transcription	Stomach Mucosa	stomach
8	chr6:34255000-34263800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr6:34255200-34263800	Strong transcription	Fetal Stomach	stomach
10	chr6:34256600-34264400	Weak transcription	Right Atrium	heart
11	chr6:34257000-34264400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr6:34258200-34263600	Strong transcription	Fetal Muscle Leg	muscle
13	chr6:34258200-34263800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:34258800-34264600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr6:34259200-34263600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr6:34259200-34263600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:34259200-34264000	Strong transcription	HepG2	liver
18	chr6:34259400-34263800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:34259400-34263800	Strong transcription	Stomach Smooth Muscle	stomach
20	chr6:34259600-34263600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:34259600-34264600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:34260200-34263600	Weak transcription	Right Ventricle	heart
23	chr6:34260200-34272800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr6:34261400-34263800	Weak transcription	A549	lung
25	chr6:34261400-34264400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:34261400-34266800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:34261400-34269000	Weak transcription	NHDF-Ad	bronchial
28	chr6:34261400-34269200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:34261400-34269400	Weak transcription	NHLF	lung
30	chr6:34261400-34273400	Weak transcription	Fetal Kidney	kidney
31	chr6:34261400-34276000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:34261600-34265200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:34261600-34268600	Weak transcription	Brain Substantia Nigra	brain
34	chr6:34261600-34269200	Weak transcription	NH-A	brain
35	chr6:34261600-34269200	Weak transcription	Osteobl	bone
36	chr6:34261600-34273400	Weak transcription	Colon Smooth Muscle	Colon
37	chr6:34261600-34276200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr6:34261800-34263600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:34261800-34268000	Weak transcription	Placenta	Placenta
40	chr6:34261800-34269200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr6:34261800-34269200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:34261800-34269200	Weak transcription	Brain Germinal Matrix	brain
43	chr6:34261800-34269400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:34261800-34271200	Weak transcription	HUVEC	blood vessel
45	chr6:34261800-34273600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:34261800-34275200	Weak transcription	Aorta	Aorta
47	chr6:34261800-34330800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr6:34262000-34263600	Weak transcription	Small Intestine	intestine
49	chr6:34262000-34263600	Weak transcription	Spleen	Spleen
50	chr6:34262000-34264000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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