Variant report

Variant	rs11803788
Chromosome Location	chr1:45912395-45912396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45911582..45914439-chr1:45956786..45959560,2	MCF-7	breast:
2	chr1:45909662..45912748-chr1:46049170..46051238,3	K562	blood:
3	chr1:45185686..45188645-chr1:45911904..45916930,4	K562	blood:

Variant related genes	Relation type
ENSG00000199377	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000070759	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11808204	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55680990	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55812863	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59796793	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60136496	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61281143	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61325888	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6659464	1.00[AMR][1000 genomes]
rs6661693	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665790	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6691750	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6694590	1.00[AMR][1000 genomes]
rs72892506	1.00[AMR][1000 genomes]
rs72892519	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72892536	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72892538	1.00[AMR][1000 genomes]
rs72892542	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894320	1.00[AMR][1000 genomes]
rs72894327	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894331	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894333	1.00[AMR][1000 genomes]
rs72894338	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894353	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72896187	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7514911	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7536005	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7538197	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7551168	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv1795802	chr1:45819489-46009818	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
6	esv1831217	chr1:45819489-46009818	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
7	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
8	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
9	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 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	chr1:45888200-45920600	Weak transcription	Primary B cells from cord blood	blood
2	chr1:45889800-45940600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:45902600-45924200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:45903200-45920600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:45905200-45921000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:45907000-45919600	Weak transcription	Primary T cells from cord blood	blood
7	chr1:45908600-45920600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:45908600-45920600	Weak transcription	Brain Substantia Nigra	brain
9	chr1:45909000-45924600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:45909200-45922400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:45910400-45912400	Weak transcription	Liver	Liver
12	chr1:45910600-45920200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:45911000-45912600	Weak transcription	Ovary	ovary
14	chr1:45911000-45918200	Weak transcription	Fetal Intestine Small	intestine
15	chr1:45911000-45930400	Weak transcription	Psoas Muscle	Psoas
16	chr1:45911400-45924400	Weak transcription	Placenta	Placenta
17	chr1:45911600-45914800	Enhancers	K562	blood
18	chr1:45911800-45912800	Enhancers	Stomach Mucosa	stomach
19	chr1:45912200-45912800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:45912200-45912800	Enhancers	HepG2	liver
21	chr1:45912200-45918800	Weak transcription	Gastric	stomach

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