Variant report

Variant	rs72683434
Chromosome Location	chr1:113445614-113445615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113445118..113448523-chr1:113453652..113455842,3	MCF-7	breast:
2	chr1:113444785..113447653-chr1:113457108..113462049,4	K562	blood:
3	chr1:113441028..113443640-chr1:113445198..113447610,3	MCF-7	breast:
4	chr1:113445368..113447569-chr1:113467662..113470258,2	K562	blood:
5	chr1:113445363..113447698-chr1:113464880..113466505,2	K562	blood:
6	chr1:113445067..113447939-chr1:113458429..113462240,3	K562	blood:
7	chr1:113342047..113343911-chr1:113444698..113447399,2	K562	blood:

Variant related genes	Relation type
ENSG00000229020	Chromatin interaction
ENSG00000155380	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11102560	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12064292	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126192	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17440299	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17493313	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17494145	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17494180	0.81[AMR][1000 genomes]
rs1936311	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149036	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28556822	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3849174	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838971	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839270	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839272	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4839276	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55768060	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55982206	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55992320	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56007797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56019044	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56220197	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6676446	0.91[EUR][1000 genomes]
rs6676864	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66899043	0.94[EUR][1000 genomes]
rs72683432	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683442	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683453	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72683454	0.96[EUR][1000 genomes]
rs72683459	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72683463	0.81[AMR][1000 genomes]
rs7518984	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524567	0.94[EUR][1000 genomes]
rs7536532	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540321	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7542229	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7545602	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548109	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7550843	0.95[EUR][1000 genomes]
rs7552903	0.97[EUR][1000 genomes]
rs9429505	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429709	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429710	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv1008434	chr1:113288282-113447426	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
11	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
12	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
13	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
14	esv3362439	chr1:113376621-113450321	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
16	nsv946144	chr1:113428625-113446146	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113437200-113446800	Weak transcription	HUVEC	blood vessel
2	chr1:113439200-113445800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:113439200-113446000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:113439200-113459200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:113439200-113460400	Weak transcription	Aorta	Aorta
6	chr1:113439400-113447800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:113440200-113456400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:113440400-113459600	Weak transcription	Primary T cells from cord blood	blood
9	chr1:113443800-113449600	Enhancers	Stomach Mucosa	stomach
10	chr1:113444000-113446400	Enhancers	NHEK	skin
11	chr1:113444200-113445800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:113444400-113447400	Weak transcription	Liver	Liver
13	chr1:113444400-113447600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:113444400-113454400	Weak transcription	HepG2	liver
15	chr1:113444400-113456600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:113444800-113446200	Weak transcription	Gastric	stomach
17	chr1:113445000-113446200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:113445000-113450400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:113445600-113446400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:113445600-113447600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:113445600-113449400	Enhancers	HMEC	breast

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