Variant report

Variant	rs206922
Chromosome Location	chr6:34336847-34336848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34335584..34339226-chr6:34339692..34345370,5	K562	blood:
2	chr6:34335526..34338425-chr6:34359180..34360853,3	MCF-7	breast:
3	chr6:34331298..34332999-chr6:34334709..34337113,2	MCF-7	breast:
4	chr6:34331340..34333770-chr6:34335223..34337521,2	K562	blood:
5	chr6:34336783..34339574-chr6:34360212..34362846,3	K562	blood:
6	chr6:34336023..34338003-chr6:34357501..34359863,2	K562	blood:

Variant related genes	Relation type
ENSG00000272325	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10484267	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10484268	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1057691	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1060308	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10648	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1127084	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1265	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12654	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13466	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16883137	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16883475	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16883896	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16888452	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs172280	1.00[YRI][hapmap]
rs17628798	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17628946	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17629180	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17629270	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17696583	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17696774	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17696829	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs182280	1.00[YRI][hapmap]
rs1889733	1.00[YRI][hapmap]
rs1994923	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs206928	1.00[YRI][hapmap]
rs206931	1.00[YRI][hapmap]
rs206932	1.00[YRI][hapmap]
rs206933	1.00[YRI][hapmap]
rs206938	1.00[YRI][hapmap]
rs206940	1.00[YRI][hapmap]
rs2395563	1.00[YRI][hapmap]
rs2840286	1.00[YRI][hapmap]
rs3798554	0.80[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3798557	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3846870	1.00[YRI][hapmap]
rs41269032	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41269034	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs41269036	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs41269038	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs453919	1.00[YRI][hapmap]
rs460389	1.00[YRI][hapmap]
rs462194	1.00[YRI][hapmap]
rs466031	1.00[YRI][hapmap]
rs4713771	0.88[EUR][1000 genomes]
rs4713778	1.00[YRI][hapmap]
rs4713782	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4713814	1.00[YRI][hapmap]
rs55674397	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55684754	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55694290	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][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	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55812200	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55833185	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55863933	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55864834	0.98[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]
rs56309550	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56323997	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56330729	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59832183	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62399870	0.86[EUR][1000 genomes]
rs6457775	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6457780	1.00[YRI][hapmap]
rs6908420	1.00[YRI][hapmap]
rs6911272	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7341244	0.83[AFR][1000 genomes]
rs7738665	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7741127	0.84[AMR][1000 genomes]
rs7760373	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7770443	0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs7773372	1.00[YRI][hapmap]
rs875274	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9368811	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9394233	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1034978	chr6:34327526-34362187	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs206922	NUDT3	cis	parietal	SCAN
rs206922	NUDT3	cis	lymphoblastoid	seeQTL
rs206922	NUDT3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34309800-34337600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:34309800-34347200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:34315400-34351200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:34318200-34355800	Weak transcription	Brain Germinal Matrix	brain
5	chr6:34320400-34350400	Weak transcription	Esophagus	oesophagus
6	chr6:34327000-34351600	Weak transcription	Ovary	ovary
7	chr6:34327600-34342200	Weak transcription	Fetal Kidney	kidney
8	chr6:34327800-34356400	Weak transcription	Hela-S3	cervix
9	chr6:34328000-34337200	Weak transcription	Right Atrium	heart
10	chr6:34328000-34342000	Weak transcription	Fetal Brain Female	brain
11	chr6:34328000-34345400	Weak transcription	Fetal Stomach	stomach
12	chr6:34328000-34351200	Weak transcription	Gastric	stomach
13	chr6:34328400-34337800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:34328600-34358000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:34328800-34337800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:34329000-34337800	Weak transcription	NHEK	skin
17	chr6:34329600-34345800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:34329800-34346400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:34329800-34351200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:34330000-34337200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr6:34331000-34338000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:34331000-34358400	Weak transcription	Aorta	Aorta
23	chr6:34331200-34337600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr6:34331200-34342200	Weak transcription	Brain Angular Gyrus	brain
25	chr6:34331200-34344400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr6:34331200-34346000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:34331200-34346200	Weak transcription	Brain Substantia Nigra	brain
28	chr6:34331200-34346200	Weak transcription	Stomach Mucosa	stomach
29	chr6:34331200-34351600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:34331400-34337200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr6:34331400-34337600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:34331400-34337800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:34331400-34337800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:34331400-34338000	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:34331400-34338000	Weak transcription	Pancreas	Pancrea
36	chr6:34331400-34338000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr6:34331400-34338400	Weak transcription	Primary B cells from cord blood	blood
38	chr6:34331400-34340800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr6:34331400-34341000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr6:34331400-34341000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:34331400-34341200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr6:34331400-34341200	Weak transcription	Brain Hippocampus Middle	brain
43	chr6:34331400-34342000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr6:34331400-34345800	Weak transcription	Fetal Intestine Small	intestine
45	chr6:34331400-34346000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr6:34331400-34348600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:34331400-34351400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr6:34331400-34353400	Weak transcription	Small Intestine	intestine
49	chr6:34331400-34353600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:34331600-34337200	Weak transcription	K562	blood

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