Variant report

Variant	rs72929966
Chromosome Location	chr18:29009675-29009676
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	ELF1	chr18:29009452-29010150	HCT-116	colon:	n/a	chr18:29009818-29009831 chr18:29009819-29009830
2	ELF1	chr18:29009479-29010084	HCT-116	colon:	n/a	chr18:29009818-29009831 chr18:29009819-29009830
3	POLR2A	chr18:29009533-29010007	HCT-116	colon:	n/a	n/a
4	POLR2A	chr18:29009442-29010012	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr18:29009671-29009952	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr18:29009612-29009917	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr18:29009644-29010003	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr18:29009548-29009896	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr18:29009626-29009876	MCF10A-Er-Src	breast:	n/a	n/a
10	RAD21	chr18:29009669-29009868	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr18:29009651-29010029	HCT-116	colon:	n/a	n/a
12	STAT3	chr18:29009606-29009876	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr18:29009647-29009811	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr18:29009649-29009925	Hela-S3	cervix:	n/a	n/a
15	STAT3	chr18:29009466-29009927	MCF10A-Er-Src	breast:	n/a	n/a
16	ELF1	chr18:29009590-29010002	K562	blood:	n/a	chr18:29009818-29009831 chr18:29009819-29009830

Variant related genes	Relation type
ENSG00000266729	TF binding region

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs16961994	0.83[AMR][1000 genomes]
rs66889852	1.00[EUR][1000 genomes]
rs67423158	0.89[EUR][1000 genomes]
rs68094756	1.00[EUR][1000 genomes]
rs7240573	0.89[EUR][1000 genomes]
rs7240789	0.89[EUR][1000 genomes]
rs7241611	0.89[EUR][1000 genomes]
rs72922886	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72922892	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72925118	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72925121	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72925127	0.89[EUR][1000 genomes]
rs72925129	0.89[EUR][1000 genomes]
rs72925137	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72925140	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72925152	0.83[AMR][1000 genomes]
rs72925153	0.83[AMR][1000 genomes]
rs72925155	0.83[AMR][1000 genomes]
rs72925156	0.83[AMR][1000 genomes]
rs72925163	0.83[AMR][1000 genomes]
rs72929968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72931998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72932001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72933906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72933939	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv916545	chr18:28898800-29166364	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv909517	chr18:28956904-29018114	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1060592	chr18:28965770-29042332	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1059676	chr18:28965770-29049614	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv869902	chr18:28967184-29053244	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv524890	chr18:28967410-29056465	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv576630	chr18:28969044-29049018	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv576631	chr18:28969044-29051677	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv458045	chr18:28969044-29056465	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv576632	chr18:28969044-29056465	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv2751776	chr18:28970147-29057719	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv576633	chr18:28972363-29038123	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv576634	chr18:28972363-29049018	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1065809	chr18:28974612-29035411	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv1065570	chr18:28974612-29049614	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv1058214	chr18:28974612-29053891	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv1062970	chr18:28976790-29049614	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv1056726	chr18:28978180-29049614	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv1061071	chr18:28979237-29048429	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv961135	chr18:29007437-29010879	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
24	nsv909518	chr18:29009409-29049018	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29006600-29010600	Enhancers	Placenta Amnion	Placenta Amnion
2	chr18:29007200-29010800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr18:29007400-29010800	Enhancers	NHEK	skin
4	chr18:29008200-29010600	Enhancers	Stomach Mucosa	stomach
5	chr18:29008200-29010800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:29008400-29009800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr18:29008400-29010600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:29008800-29010600	Enhancers	HMEC	breast
9	chr18:29009000-29010400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr18:29009200-29010200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr18:29009200-29010200	Enhancers	Fetal Intestine Large	intestine
12	chr18:29009200-29010400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr18:29009200-29010600	Enhancers	Hela-S3	cervix
14	chr18:29009400-29009800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr18:29009400-29010400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr18:29009600-29010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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