Variant report

Variant	rs9469779
Chromosome Location	chr6:34393845-34393846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:459)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr6:34393549-34394282	HCT-116	colon:	n/a	chr6:34393894-34393904
2	EP300	chr6:34393793-34394147	GM12878	blood:	n/a	n/a
3	TAF1	chr6:34393637-34394226	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr6:34393064-34394097	IMR90	lung:	n/a	n/a
5	POLR2A	chr6:34392845-34394223	PANC-1	pancreas:	n/a	n/a
6	ZNF263	chr6:34392670-34394171	HEK293-T-REx	kidney:	n/a	chr6:34392808-34392817
7	ELF1	chr6:34393635-34394120	K562	blood:	n/a	chr6:34394007-34394016 chr6:34393869-34393882
8	CCNT2	chr6:34393638-34394098	K562	blood:	n/a	n/a
9	YY1	chr6:34393659-34394130	SK-N-SH_RA	brain:	n/a	n/a
10	YY1	chr6:34393658-34394065	HCT-116	colon:	n/a	n/a
11	ELK1	chr6:34393765-34394152	Hela-S3	cervix:	n/a	n/a
12	RAD21	chr6:34393781-34394093	SK-N-SH_RA	brain:	n/a	n/a
13	TCF12	chr6:34393558-34394220	ECC-1	luminal epithelium:	n/a	n/a
14	TAF7	chr6:34393077-34394167	H1-hESC	embryonic stem cell:	n/a	n/a
15	TBL1XR1	chr6:34393479-34394074	K562	blood:	n/a	n/a
16	POLR2A	chr6:34393568-34394137	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr6:34393140-34394158	HUVEC	blood vessel:	n/a	n/a
18	MAX	chr6:34393693-34394265	A549	lung:	n/a	chr6:34393894-34393904
19	TAF1	chr6:34393648-34394172	PFSK-1	brain:	n/a	n/a
20	HCFC1	chr6:34393617-34394450	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr6:34393015-34394169	GM12878	blood:	n/a	n/a
22	ZMIZ1	chr6:34393620-34394184	K562	blood:	n/a	n/a
23	TCF3	chr6:34393625-34394025	GM12878	blood:	n/a	n/a
24	RELA	chr6:34393419-34394187	GM19099	blood:	n/a	n/a
25	YY1	chr6:34393636-34394086	GM12892	blood:	n/a	n/a
26	SP1	chr6:34393519-34394251	HCT-116	colon:	n/a	chr6:34393887-34393899 chr6:34393888-34393897 chr6:34393887-34393899 chr6:34393888-34393898
27	POLR2A	chr6:34393041-34394160	GM12891	blood:	n/a	n/a
28	MYC	chr6:34393021-34394174	K562	blood:	n/a	chr6:34393894-34393904 chr6:34393040-34393050
29	UBTF	chr6:34393660-34394133	K562	blood:	n/a	n/a
30	EP300	chr6:34393609-34394250	GM12878	blood:	n/a	n/a
31	REST	chr6:34393650-34394123	K562	blood:	n/a	chr6:34393856-34393866
32	SMC3	chr6:34393764-34394150	Hela-S3	cervix:	n/a	n/a
33	NFIC	chr6:34393607-34394146	HepG2	liver:	n/a	n/a
34	NFIC	chr6:34393605-34393959	GM12878	blood:	n/a	n/a
35	MYC	chr6:34393739-34393994	MCF-7	breast:	n/a	chr6:34393894-34393904
36	PAX5	chr6:34393631-34394228	GM12878	blood:	n/a	n/a
37	E2F6	chr6:34393707-34394065	K562	blood:	n/a	n/a
38	NFIC	chr6:34393518-34394239	GM12878	blood:	n/a	n/a
39	POLR2A	chr6:34393361-34394164	ProgFib	skin:	n/a	n/a
40	MXI1	chr6:34393613-34394103	Hela-S3	cervix:	n/a	n/a
41	RXRA	chr6:34393689-34394112	H1-hESC	embryonic stem cell:	n/a	n/a
42	TAL1	chr6:34393513-34394123	K562	blood:	n/a	n/a
43	BCLAF1	chr6:34393653-34394130	GM12878	blood:	n/a	n/a
44	UBTF	chr6:34393705-34394152	K562	blood:	n/a	n/a
45	POLR2A	chr6:34393472-34394303	HUVEC	blood vessel:	n/a	n/a
46	SMC3	chr6:34393795-34394145	GM12878	blood:	n/a	n/a
47	POLR2A	chr6:34392951-34394233	K562	blood:	n/a	n/a
48	HEY1	chr6:34393424-34394247	HepG2	liver:	n/a	chr6:34393924-34393939
49	RFX5	chr6:34393696-34394217	K562	blood:	n/a	n/a
50	ATF2	chr6:34393646-34394109	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34202622..34206817-chr6:34391790..34393979,3	MCF-7	breast:
2	chr6:34209798..34218235-chr6:34387971..34396103,20	K562	blood:
3	chr6:34203584..34206226-chr6:34392090..34394590,2	K562	blood:
4	chr6:34357967..34362826-chr6:34390808..34395314,8	K562	blood:
5	chr13:28023643..28024354-chr6:34393046..34393849,2	Hela-S3	cervix:
6	chr11:46449233..46452238-chr6:34392226..34393967,6	K562	blood:
7	chr6:34212618..34219497-chr6:34387813..34394246,15	K562	blood:
8	chr6:34391617..34394715-chr6:34431838..34435722,3	MCF-7	breast:
9	chr15:101834947..101835608-chr6:34393258..34393900,2	Hela-S3	cervix:
10	chr11:46449218..46452238-chr6:34392341..34394490,5	MCF-7	breast:
11	chr6:34392492..34394082-chr6:34758851..34761190,2	MCF-7	breast:
12	chr6:34392408..34394621-chr6:34663502..34666102,2	K562	blood:
13	chr6:34358853..34362255-chr6:34392162..34395391,9	MCF-7	breast:
14	chr6:34392363..34394175-chr6:34723427..34725918,3	MCF-7	breast:
15	chr6:34203686..34207490-chr6:34388234..34395019,9	K562	blood:
16	chr6:34358195..34361774-chr6:34391620..34393850,4	K562	blood:
17	chr6:34392840..34394590-chr6:34855825..34858514,2	K562	blood:
18	chr11:46449211..46452238-chr6:34390894..34393967,4	K562	blood:
19	chr6:32936292..32939162-chr6:34392465..34394663,2	MCF-7	breast:
20	chr17:60554747..60557192-chr6:34392556..34394064,2	MCF-7	breast:
21	chr6:34203866..34208750-chr6:34388488..34394053,10	MCF-7	breast:
22	chr6:34215435..34217871-chr6:34390764..34394019,4	MCF-7	breast:
23	chr11:46450238..46451231-chr6:34393265..34393905,3	MCF-7	breast:

No data

Variant related genes	Relation type
RPS10	TF binding region
RPS10-NUDT3	TF binding region
ENSG00000272288	Chromatin interaction
ENSG00000131876	Chromatin interaction
ENSG00000272325	Chromatin interaction
ENSG00000064995	Chromatin interaction
ENSG00000196821	Chromatin interaction
ENSG00000065060	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000124562	Chromatin interaction
ENSG00000186577	Chromatin interaction
ENSG00000204257	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000146872	Chromatin interaction
ENSG00000064999	Chromatin interaction
ENSG00000244313	Chromatin interaction
ENSG00000124507	Chromatin interaction
ENSG00000122033	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs16889706	0.81[ASN][1000 genomes]
rs1811968	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2006833	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs206919	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs206920	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs206921	0.84[EUR][1000 genomes]
rs206924	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs206936	0.87[EUR][1000 genomes]
rs206941	0.86[EUR][1000 genomes]
rs206942	0.84[EUR][1000 genomes]
rs3798556	0.85[EUR][1000 genomes]
rs3798560	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3913009	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3913010	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs410340	0.86[EUR][1000 genomes]
rs414739	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs458576	0.87[EUR][1000 genomes]
rs4587164	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs464553	0.87[EUR][1000 genomes]
rs568502	0.84[EUR][1000 genomes]
rs6457773	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6907486	0.85[EUR][1000 genomes]
rs6912971	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6924482	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6924982	0.86[EUR][1000 genomes]
rs6930978	0.86[EUR][1000 genomes]
rs71537469	0.80[AMR][1000 genomes]
rs7757586	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7757900	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7765498	0.84[EUR][1000 genomes]
rs7768978	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7773447	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9366856	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9368810	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9368813	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9380433	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9380435	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9394214	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9394215	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9394218	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9461981	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9469775	0.87[EUR][1000 genomes]
rs9469778	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9469780	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9469779	NUDT3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34391600-34394000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:34392400-34394000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:34392400-34394000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
4	chr6:34392400-34394400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:34392600-34394000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
6	chr6:34392600-34394200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:34392600-34394200	Active TSS	Psoas Muscle	Psoas
8	chr6:34392600-34394400	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr6:34392600-34394400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr6:34392800-34394000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:34392800-34394000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:34392800-34394000	Active TSS	Gastric	stomach
13	chr6:34392800-34394200	Active TSS	Brain Anterior Caudate	brain
14	chr6:34392800-34394200	Active TSS	Esophagus	oesophagus
15	chr6:34392800-34394200	Active TSS	Fetal Kidney	kidney
16	chr6:34392800-34394200	Active TSS	Ovary	ovary
17	chr6:34392800-34394200	Active TSS	Right Ventricle	heart
18	chr6:34392800-34394200	Active TSS	HSMM	muscle
19	chr6:34392800-34394200	Active TSS	HSMMtube	muscle
20	chr6:34392800-34394200	Active TSS	NH-A	brain
21	chr6:34392800-34394200	Active TSS	NHDF-Ad	bronchial
22	chr6:34392800-34394200	Active TSS	NHLF	lung
23	chr6:34392800-34394400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr6:34392800-34394400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:34392800-34394400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:34392800-34394400	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr6:34392800-34394400	Active TSS	Muscle Satellite Cultured Cells	--
28	chr6:34392800-34394400	Active TSS	Thymus	Thymus
29	chr6:34392800-34394400	Active TSS	Hela-S3	cervix
30	chr6:34392800-34394600	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr6:34392800-34394600	Active TSS	Rectal Smooth Muscle	rectum
32	chr6:34393000-34394000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:34393000-34394000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:34393000-34394000	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr6:34393000-34394000	Active TSS	Liver	Liver
36	chr6:34393000-34394000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr6:34393000-34394000	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr6:34393000-34394000	Active TSS	HUVEC	blood vessel
39	chr6:34393000-34394000	Active TSS	Osteobl	bone
40	chr6:34393000-34394200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr6:34393000-34394200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:34393000-34394200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:34393000-34394200	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr6:34393000-34394200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:34393000-34394200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:34393000-34394200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:34393000-34394200	Active TSS	Aorta	Aorta
48	chr6:34393000-34394200	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr6:34393000-34394200	Active TSS	Fetal Heart	heart
50	chr6:34393000-34394200	Active TSS	Fetal Intestine Large	intestine

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