Variant report

Variant	rs9352005
Chromosome Location	chr6:74238608-74238609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr6:74238507-74238962	K562	blood:	n/a	n/a
2	ZMIZ1	chr6:74238604-74239041	K562	blood:	n/a	n/a
3	NR2F2	chr6:74238394-74239159	K562	blood:	n/a	n/a
4	CCNT2	chr6:74238492-74239026	K562	blood:	n/a	n/a
5	STAT5A	chr6:74238493-74239102	K562	blood:	n/a	n/a
6	UBTF	chr6:74238591-74238906	K562	blood:	n/a	n/a
7	PML	chr6:74238512-74239091	K562	blood:	n/a	n/a
8	TBL1XR1	chr6:74238450-74239110	K562	blood:	n/a	n/a
9	CEBPD	chr6:74238496-74239164	K562	blood:	n/a	n/a
10	TEAD4	chr6:74238425-74239222	K562	blood:	n/a	n/a
11	TRIM28	chr6:74238501-74239153	K562	blood:	n/a	n/a
12	NR2F2	chr6:74238487-74239023	K562	blood:	n/a	n/a
13	GATA2	chr6:74238452-74239158	K562	blood:	n/a	n/a
14	JUND	chr6:74238360-74239007	K562	blood:	n/a	n/a
15	GATA1	chr6:74238436-74239188	PBDE	blood:	n/a	n/a
16	MAFK	chr6:74238504-74238939	K562	blood:	n/a	n/a
17	ZNF143	chr6:74238590-74238615	K562	blood:	n/a	n/a
18	PML	chr6:74238522-74239135	K562	blood:	n/a	n/a
19	EP300	chr6:74238590-74239086	K562	blood:	n/a	n/a
20	TEAD4	chr6:74238490-74239161	K562	blood:	n/a	n/a
21	TAL1	chr6:74238450-74239431	K562	blood:	n/a	n/a
22	POLR2A	chr6:74238552-74239063	K562	blood:	n/a	n/a
23	RCOR1	chr6:74238396-74239082	K562	blood:	n/a	n/a
24	MAZ	chr6:74238576-74239001	K562	blood:	n/a	n/a
25	RCOR1	chr6:74238564-74239034	K562	blood:	n/a	n/a
26	MYC	chr6:74238566-74239153	K562	blood:	n/a	n/a
27	GATA2	chr6:74238545-74239035	K562	blood:	n/a	n/a
28	MAX	chr6:74238573-74238956	K562	blood:	n/a	n/a
29	ARID3A	chr6:74238600-74238899	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:74237984..74240224-chr6:74244775..74246543,2	K562	blood:
2	chr6:74236818..74238643-chr6:74323624..74325300,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223967	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11755449	0.81[CHB][hapmap]
rs1245347	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13203367	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1390081	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1390082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1874229	1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs1874230	0.81[TSI][hapmap]
rs2017272	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2073465	0.81[CHB][hapmap]
rs2073466	0.81[TSI][hapmap]
rs2291719	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3822960	0.81[TSI][hapmap]
rs4257823	0.90[EUR][1000 genomes]
rs4708055	0.87[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs4708062	0.97[EUR][1000 genomes]
rs569652	0.81[EUR][1000 genomes]
rs617464	1.00[CEU][hapmap];0.80[GIH][hapmap];0.92[TSI][hapmap];0.97[EUR][1000 genomes]
rs642722	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs6453679	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6915328	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6918753	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs693434	0.80[EUR][1000 genomes]
rs7741376	0.80[EUR][1000 genomes]
rs7751342	0.81[TSI][hapmap]
rs7767833	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7768275	0.81[EUR][1000 genomes]
rs7771730	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs780068	0.80[EUR][1000 genomes]
rs9352004	0.82[EUR][1000 genomes]
rs9352006	0.82[EUR][1000 genomes]
rs9442916	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9446917	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
6	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
8	esv2763576	chr6:74197638-74277249	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
9	nsv5350	chr6:74221995-74267088	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	159 gene(s)	inside rSNPs	diseases
10	nsv886159	chr6:74223153-74275405	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	159 gene(s)	inside rSNPs	diseases
11	nsv463153	chr6:74229258-74290291	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
12	nsv603693	chr6:74229258-74290291	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs9352005	SMAP1	cis	parietal	SCAN
rs9352005	EEF1A1	cis	parietal	SCAN
rs9352005	EEF1A1	Cis_1M	lymphoblastoid	RTeQTL
rs9352005	EEF1A1	cis	cerebellum	SCAN
rs9352005	C6orf221	cis	cerebellum	SCAN
rs9352005	MTO1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74238000-74239200	Enhancers	K562	blood
2	chr6:74238200-74238800	Enhancers	Gastric	stomach
3	chr6:74238400-74238800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:74238600-74238800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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