Variant report

Variant	rs3094720
Chromosome Location	chr6:30843170-30843171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr6:30843057-30843676	K562	blood:	n/a	n/a
2	YY1	chr6:30842989-30843502	H1-hESC	embryonic stem cell:	n/a	chr6:30843174-30843186
3	MAX	chr6:30843068-30843598	K562	blood:	n/a	n/a
4	IRF1	chr6:30843014-30844793	K562	blood:	n/a	n/a
5	CUX1	chr6:30843147-30843659	K562	blood:	n/a	n/a
6	YY1	chr6:30843068-30843285	GM12892	blood:	n/a	chr6:30843174-30843186
7	FOXA2	chr6:30843102-30843439	A549	lung:	n/a	n/a
8	POLR2A	chr6:30843093-30843707	K562	blood:	n/a	n/a
9	MAZ	chr6:30843166-30843610	K562	blood:	n/a	n/a
10	POLR2A	chr6:30843101-30844719	K562	blood:	n/a	n/a
11	YY1	chr6:30843093-30843373	GM12878	blood:	n/a	chr6:30843174-30843186
12	YY1	chr6:30843082-30843337	GM12891	blood:	n/a	chr6:30843174-30843186
13	MXI1	chr6:30843050-30843383	K562	blood:	n/a	n/a
14	CBX3	chr6:30842972-30843770	K562	blood:	n/a	n/a
15	YY1	chr6:30842805-30843451	K562	blood:	n/a	chr6:30843174-30843186
16	FOXA2	chr6:30843096-30843494	A549	lung:	n/a	n/a
17	MYC	chr6:30843025-30843598	K562	blood:	n/a	n/a
18	TAL1	chr6:30843129-30844784	K562	blood:	n/a	n/a
19	IRF1	chr6:30843060-30844785	K562	blood:	n/a	n/a
20	ZC3H11A	chr6:30843044-30843656	K562	blood:	n/a	n/a
21	FOXA1	chr6:30843118-30843494	T-47D	breast:	n/a	n/a
22	YY1	chr6:30843086-30843295	K562	blood:	n/a	chr6:30843174-30843186
23	BHLHE40	chr6:30843065-30843421	K562	blood:	n/a	n/a
24	JUND	chr6:30843033-30843605	K562	blood:	n/a	n/a
25	ZMIZ1	chr6:30843108-30844719	K562	blood:	n/a	n/a
26	YY1	chr6:30843007-30843362	H1-hESC	embryonic stem cell:	n/a	chr6:30843174-30843186
27	NR2F2	chr6:30843170-30843777	K562	blood:	n/a	n/a
28	GTF2F1	chr6:30843047-30843620	K562	blood:	n/a	n/a
29	TBL1XR1	chr6:30842971-30844869	K562	blood:	n/a	n/a
30	YY1	chr6:30843058-30843342	GM12878	blood:	n/a	chr6:30843174-30843186
31	POLR2A	chr6:30843151-30844790	K562	blood:	n/a	n/a
32	YY1	chr6:30842719-30843423	K562	blood:	n/a	chr6:30843174-30843186
33	TEAD4	chr6:30842863-30843692	K562	blood:	n/a	n/a
34	RCOR1	chr6:30843108-30843527	K562	blood:	n/a	n/a
35	RCOR1	chr6:30843025-30843593	K562	blood:	n/a	n/a
36	EP300	chr6:30843154-30843710	GM12878	blood:	n/a	n/a
37	CEBPB	chr6:30843105-30843411	K562	blood:	n/a	n/a
38	NR2F2	chr6:30842950-30846013	K562	blood:	n/a	n/a
39	UBTF	chr6:30843000-30843587	K562	blood:	n/a	n/a
40	ARID3A	chr6:30843076-30844798	K562	blood:	n/a	n/a
41	EP300	chr6:30843024-30843627	K562	blood:	n/a	n/a
42	MYC	chr6:30843059-30843533	K562	blood:	n/a	n/a
43	YY1	chr6:30843017-30843388	GM12892	blood:	n/a	chr6:30843174-30843186
44	POLR2A	chr6:30843144-30844789	K562	blood:	n/a	n/a
45	POLR2A	chr6:30843165-30844767	K562	blood:	n/a	n/a
46	TEAD4	chr6:30842765-30844869	K562	blood:	n/a	n/a
47	PML	chr6:30843026-30843777	K562	blood:	n/a	n/a
48	POLR2A	chr6:30843094-30843705	K562	blood:	n/a	n/a
49	YY1	chr6:30842934-30843463	K562	blood:	n/a	chr6:30843174-30843186

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30709189..30710884-chr6:30841822..30843594,2	MCF-7	breast:
2	chr6:30831759..30834658-chr6:30842152..30844825,3	K562	blood:
3	chr6:30794216..30799803-chr6:30838849..30846731,16	K562	blood:
4	chr6:30707945..30712505-chr6:30840794..30847673,9	K562	blood:
5	chr6:30748393..30749996-chr6:30841265..30843895,2	K562	blood:
6	chr6:30704403..30722478-chr6:30842859..30858629,100	MCF-7	breast:
7	chr6:30780598..30803497-chr6:30842531..30855110,80	MCF-7	breast:
8	chr6:30683784..30686577-chr6:30843156..30844763,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SFTA2-10	chr6:30842554-30843695	ENSG00000237775.1

No data

Variant related genes	Relation type
DDR1	TF binding region
ENSG00000202241	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000263608	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000228022	Chromatin interaction
ENSG00000214894	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000137312	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs2394449	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2394450	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2394451	0.93[ASN][1000 genomes]
rs2517582	0.90[ASN][1000 genomes]
rs2535338	0.92[ASN][1000 genomes]
rs3094109	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3095342	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3095343	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3095344	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3095346	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3095348	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3095349	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3095350	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3095351	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3095352	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3095354	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3129990	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3129993	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3130649	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3130650	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3130651	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3130652	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3130653	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3130655	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3130656	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3130786	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3130787	0.88[EUR][1000 genomes]
rs3130789	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3130791	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3130792	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3130793	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3130794	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3130795	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3130796	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3131027	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3131030	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3131031	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3131033	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3131066	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3132573	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3132574	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3132575	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3132576	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3132578	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9262251	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv884109	chr6:30824532-30872203	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30838800-30845000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr6:30838800-30845200	Weak transcription	Right Atrium	heart
3	chr6:30839800-30845000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:30840000-30845000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr6:30840800-30844800	Weak transcription	Thymus	Thymus
6	chr6:30841200-30843400	Weak transcription	Placenta	Placenta
7	chr6:30842400-30844600	Flanking Active TSS	K562	blood
8	chr6:30842400-30846000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:30842600-30845400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:30842800-30845200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:30843000-30843200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:30843000-30844000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:30843000-30845000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:30843000-30845200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:30843000-30846000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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