Variant report

Variant	rs73954673
Chromosome Location	chr18:29266913-29266914
allele	A/G
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	FOXA1	chr18:29266524-29266958	HepG2	liver:	n/a	n/a
2	FOXA1	chr18:29266571-29266929	HepG2	liver:	n/a	n/a
3	FOS	chr18:29266863-29267170	MCF10A-Er-Src	breast:	n/a	n/a
4	TBP	chr18:29266696-29266969	GM12878	blood:	n/a	n/a
5	MAFK	chr18:29266545-29266999	HepG2	liver:	n/a	chr18:29266722-29266738 chr18:29266723-29266737 chr18:29266956-29266965 chr18:29266952-29266972 chr18:29266719-29266734 chr18:29266720-29266740
6	FOS	chr18:29266879-29267006	MCF10A-Er-Src	breast:	n/a	n/a
7	MAFK	chr18:29266553-29266914	Hela-S3	cervix:	n/a	chr18:29266722-29266738 chr18:29266723-29266737 chr18:29266719-29266734 chr18:29266720-29266740
8	MAFF	chr18:29266547-29266915	HepG2	liver:	n/a	chr18:29266717-29266735 chr18:29266723-29266737
9	GATA3	chr18:29266627-29267032	MCF-7	breast:	n/a	n/a
10	MAFF	chr18:29266560-29266913	K562	blood:	n/a	chr18:29266717-29266735 chr18:29266723-29266737
11	FOS	chr18:29266843-29267043	MCF10A-Er-Src	breast:	n/a	n/a
12	FOXA2	chr18:29266638-29266956	HepG2	liver:	n/a	n/a
13	MAFK	chr18:29266562-29266919	HepG2	liver:	n/a	chr18:29266722-29266738 chr18:29266723-29266737 chr18:29266719-29266734 chr18:29266720-29266740
14	FOS	chr18:29266745-29267064	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr18:29263662-29267464	GM12891	blood:	n/a	n/a
16	FOXA1	chr18:29266683-29266958	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29257336..29259422-chr18:29266158..29267928,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTR-1	chr18:29264688-29267822	NONHSAT058829

Variant related genes	Relation type
B4GALT6	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55705955	1.00[AFR][1000 genomes]
rs73954663	1.00[AMR][1000 genomes]
rs73954665	1.00[AMR][1000 genomes]
rs73954671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956430	1.00[AMR][1000 genomes]
rs73956433	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8084949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831348	chr18:29205526-29268786	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29265600-29267600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr18:29265600-29267600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr18:29265600-29268000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr18:29266000-29267200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:29266000-29267200	Enhancers	HMEC	breast
6	chr18:29266000-29267400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:29266000-29267600	Flanking Active TSS	GM12878-XiMat	blood
8	chr18:29266200-29267000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr18:29266200-29267000	Weak transcription	Brain Germinal Matrix	brain
10	chr18:29266200-29267200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr18:29266200-29267200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:29266200-29267200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr18:29266200-29267200	Enhancers	HepG2	liver
14	chr18:29266200-29267200	Enhancers	HUVEC	blood vessel
15	chr18:29266200-29267400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr18:29266200-29267400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr18:29266200-29267400	Enhancers	NHEK	skin
18	chr18:29266200-29268600	Weak transcription	Stomach Mucosa	stomach
19	chr18:29266400-29267000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr18:29266400-29267200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr18:29266400-29267200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr18:29266400-29267200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:29266400-29267200	Enhancers	A549	lung
24	chr18:29266400-29267400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:29266400-29267800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr18:29266400-29267800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr18:29266400-29268000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr18:29266400-29268600	Weak transcription	Adipose Nuclei	Adipose
29	chr18:29266400-29268600	Weak transcription	Fetal Thymus	thymus
30	chr18:29266400-29268600	Weak transcription	Thymus	Thymus
31	chr18:29266400-29269200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr18:29266400-29269400	Enhancers	Dnd41	blood
33	chr18:29266600-29267400	Enhancers	Primary hematopoietic stem cells	blood
34	chr18:29266600-29267400	Weak transcription	Hela-S3	cervix
35	chr18:29266600-29268000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr18:29266800-29267200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr18:29266800-29267200	Weak transcription	Fetal Intestine Small	intestine
38	chr18:29266800-29267600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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