Variant report

Variant	rs72721195
Chromosome Location	chr15:30261601-30261602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:30260203-30261869	A549	lung:	n/a	chr15:30260559-30260569 chr15:30260666-30260673
2	MAX	chr15:30260307-30261726	A549	lung:	n/a	chr15:30260559-30260569 chr15:30260666-30260673
3	MAX	chr15:30260440-30261636	ECC-1	luminal epithelium:	n/a	chr15:30260559-30260569 chr15:30260666-30260673
4	TBP	chr15:30261249-30261654	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr15:30260300-30261650	A549	lung:	n/a	chr15:30260847-30260856 chr15:30261247-30261256
6	MAX	chr15:30261186-30261658	A549	lung:	n/a	n/a
7	MAX	chr15:30261250-30261706	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr15:30261137-30261638	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr15:30261203-30261723	H1-hESC	embryonic stem cell:	n/a	chr15:30261247-30261256

Variant related genes	Relation type
TJP1	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10162810	0.96[ASN][1000 genomes]
rs12591828	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12592695	1.00[ASN][1000 genomes]
rs12595280	0.99[ASN][1000 genomes]
rs13379765	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13380132	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403254	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2049257	0.95[ASN][1000 genomes]
rs2222420	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2337255	1.00[ASN][1000 genomes]
rs28373762	1.00[ASN][1000 genomes]
rs3934592	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4492992	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4627281	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4779465	0.96[ASN][1000 genomes]
rs4779466	0.96[ASN][1000 genomes]
rs4779685	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4779686	0.96[ASN][1000 genomes]
rs4779687	0.96[ASN][1000 genomes]
rs4779688	0.96[ASN][1000 genomes]
rs55873920	0.96[ASN][1000 genomes]
rs56859685	0.96[ASN][1000 genomes]
rs57380751	0.96[ASN][1000 genomes]
rs57800517	0.94[ASN][1000 genomes]
rs57928282	1.00[ASN][1000 genomes]
rs60420783	0.96[ASN][1000 genomes]
rs6492896	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66684419	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67913215	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7181195	1.00[ASN][1000 genomes]
rs7181851	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721180	0.96[ASN][1000 genomes]
rs72721194	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8025920	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv482572	chr15:30118905-30304529	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv456739	chr15:30178614-30366247	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv568716	chr15:30178614-30366247	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv431371	chr15:30193316-31012794	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
10	nsv903756	chr15:30220424-30281105	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1054008	chr15:30220707-30351687	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv542294	chr15:30220707-30351687	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv2751527	chr15:30245808-30605836	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	esv3410581	chr15:30259685-30262533	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
15	esv3382913	chr15:30260010-30262333	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30259200-30262200	Active TSS	Brain Anterior Caudate	brain
2	chr15:30259600-30262000	Active TSS	Brain Angular Gyrus	brain
3	chr15:30259800-30261800	Active TSS	Brain Cingulate Gyrus	brain
4	chr15:30259800-30261800	Active TSS	Brain Hippocampus Middle	brain
5	chr15:30259800-30262000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:30259800-30262600	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr15:30260200-30261800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr15:30260200-30261800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr15:30260200-30261800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr15:30260200-30261800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr15:30260200-30261800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr15:30260600-30261800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr15:30260600-30263200	Enhancers	Liver	Liver
14	chr15:30261200-30262400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:30261400-30261800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr15:30261400-30262000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr15:30261400-30262400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:30261600-30261800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:30261600-30261800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:30261600-30262000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr15:30261600-30262000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:30261600-30262800	Flanking Active TSS	Brain Substantia Nigra	brain

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