Variant report

Variant	rs6950083
Chromosome Location	chr7:149408106-149408107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr7:149407961-149408193	A549	lung:	n/a	n/a
2	RCOR1	chr7:149407957-149408302	K562	blood:	n/a	n/a
3	USF1	chr7:149407898-149408293	A549	lung:	n/a	n/a
4	ZNF143	chr7:149407906-149408299	GM12878	blood:	n/a	n/a
5	USF1	chr7:149407941-149408291	HCT-116	colon:	n/a	n/a
6	KAP1	chr7:149407649-149408849	HEK293	kidney:	n/a	n/a
7	TRIM28	chr7:149407895-149408229	K562	blood:	n/a	n/a
8	ZNF384	chr7:149408024-149408267	K562	blood:	n/a	n/a
9	EP300	chr7:149407940-149408388	K562	blood:	n/a	n/a
10	ARID3A	chr7:149407892-149408332	K562	blood:	n/a	n/a
11	USF1	chr7:149407912-149408220	A549	lung:	n/a	n/a
12	ARID3A	chr7:149407943-149408246	HepG2	liver:	n/a	n/a
13	CBX3	chr7:149407817-149408401	HCT-116	colon:	n/a	n/a
14	CBX3	chr7:149407762-149408530	K562	blood:	n/a	n/a
15	CBX3	chr7:149407817-149408409	K562	blood:	n/a	n/a
16	JUN	chr7:149407938-149408285	K562	blood:	n/a	n/a
17	USF1	chr7:149407948-149408331	HCT-116	colon:	n/a	n/a
18	STAT3	chr7:149408056-149408347	MCF10A-Er-Src	breast:	n/a	n/a
19	KAP1	chr7:149407698-149408992	U2OS	brain:	n/a	n/a
20	SETDB1	chr7:149407376-149409175	K562	blood:	n/a	n/a
21	MYC	chr7:149408031-149408607	A549	lung:	n/a	n/a
22	KAP1	chr7:149407559-149409086	K562	blood:	n/a	n/a
23	ZNF143	chr7:149408053-149408253	Hela-S3	cervix:	n/a	n/a
24	TBL1XR1	chr7:149407929-149408515	K562	blood:	n/a	n/a
25	CBX3	chr7:149407824-149408396	HCT-116	colon:	n/a	n/a
26	TRIM28	chr7:149407716-149408401	K562	blood:	n/a	n/a
27	IRF1	chr7:149407947-149408355	K562	blood:	n/a	n/a
28	SETDB1	chr7:149407607-149408664	U2OS	brain:	n/a	n/a
29	ZNF143	chr7:149407909-149408334	K562	blood:	n/a	n/a
30	ZNF143	chr7:149407906-149408300	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:149386837..149389497-chr7:149406569..149408146,2	K562	blood:
2	chr7:149321448..149323159-chr7:149407303..149409923,2	K562	blood:
3	chr7:149403401..149406008-chr7:149406550..149409002,2	MCF-7	breast:

No data

Variant related genes	Relation type
KRBA1	TF binding region
ENSG00000133624	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11762038	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11763060	0.88[EUR][1000 genomes]
rs2373488	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2888582	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58750331	0.90[EUR][1000 genomes]
rs59231277	0.90[EUR][1000 genomes]
rs59676581	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60976931	0.83[EUR][1000 genomes]
rs6464988	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6945296	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6951171	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6954251	0.83[EUR][1000 genomes]
rs6966813	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6967449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7459190	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021849	chr7:149230929-149422239	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv469576	chr7:149379626-149563233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1031581	chr7:149386249-149570178	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv539192	chr7:149386249-149570178	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv465199	chr7:149398065-149462621	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv608979	chr7:149398065-149462621	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149404000-149410400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:149407800-149409200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:149408000-149408800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
4	chr7:149408000-149410600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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