Variant report

Variant	rs55869763
Chromosome Location	chr8:48440621-48440622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48435225..48441849-chr8:48646333..48652657,17	MCF-7	breast:
2	chr8:48433892..48441630-chr8:48644198..48652247,18	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-1134I14.8.1-7	chr8:48439959-48440710	ENSG00000269924.1

Variant related genes	Relation type
ENSG00000164808	Chromatin interaction
ENSG00000221869	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs72644583	1.00[AMR][1000 genomes]
rs72644595	1.00[AMR][1000 genomes]
rs72646319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72646331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72646345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48434000-48455400	Weak transcription	Primary T cells from cord blood	blood
2	chr8:48434400-48444400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:48436400-48441400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:48436600-48445400	Weak transcription	GM12878-XiMat	blood
5	chr8:48437200-48441000	Weak transcription	Spleen	Spleen
6	chr8:48437600-48441400	Enhancers	Brain Substantia Nigra	brain
7	chr8:48437800-48441800	Enhancers	Small Intestine	intestine
8	chr8:48438000-48444200	Weak transcription	NHEK	skin
9	chr8:48438000-48446400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:48438800-48452400	Weak transcription	HSMM	muscle
11	chr8:48439400-48442400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:48439600-48441000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:48439600-48445000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:48439800-48442800	Weak transcription	Placenta	Placenta
15	chr8:48439800-48443400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:48439800-48455400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:48440000-48441200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:48440000-48442200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:48440000-48442400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:48440000-48443600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:48440000-48444200	Weak transcription	HepG2	liver
22	chr8:48440000-48444400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr8:48440000-48445200	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:48440000-48446400	Weak transcription	Fetal Intestine Small	intestine
25	chr8:48440000-48452600	Weak transcription	Fetal Kidney	kidney
26	chr8:48440200-48441600	Weak transcription	Primary B cells from cord blood	blood
27	chr8:48440600-48440800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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