Variant report

Variant	rs1804854
Chromosome Location	chr8:119936669-119936670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119909629..119911189-chr8:119934739..119937482,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11573806	1.00[MEX][hapmap]
rs11573900	1.00[MEX][hapmap]
rs11573913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11573921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11573951	0.80[AFR][1000 genomes]
rs12375328	1.00[MEX][hapmap]
rs4520195	0.91[ASW][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes]
rs57098524	0.87[AMR][1000 genomes]
rs60864203	0.87[AMR][1000 genomes]
rs7002995	0.87[AMR][1000 genomes]
rs73319635	0.87[AMR][1000 genomes]
rs7815884	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7833877	1.00[MEX][hapmap]
rs7835154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs882763	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 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	chr8:119927400-119941400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:119928800-119956600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:119929000-119940400	Weak transcription	HSMMtube	muscle
4	chr8:119929200-119947400	Weak transcription	NH-A	brain
5	chr8:119933400-119938000	Weak transcription	Liver	Liver
6	chr8:119933600-119942600	Weak transcription	Fetal Intestine Small	intestine
7	chr8:119933800-119941200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:119934600-119944000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:119934800-119941200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:119934800-119947400	Weak transcription	Adipose Nuclei	Adipose
11	chr8:119934800-119948000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:119935000-119956600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:119935200-119943600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:119935400-119937600	Enhancers	Hela-S3	cervix
15	chr8:119935400-119939400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:119935600-119943200	Strong transcription	Osteobl	bone
17	chr8:119935600-119948000	Weak transcription	Left Ventricle	heart
18	chr8:119936200-119937000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:119936200-119937000	Strong transcription	Fetal Intestine Large	intestine
20	chr8:119936200-119937000	Genic enhancers	NHDF-Ad	bronchial
21	chr8:119936200-119937600	Enhancers	NHEK	skin
22	chr8:119936200-119948000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:119936400-119937000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:119936400-119937000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:119936400-119937000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:119936400-119937000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:119936400-119937000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:119936400-119937000	Strong transcription	Aorta	Aorta
29	chr8:119936400-119937000	Enhancers	HMEC	breast
30	chr8:119936400-119940000	Weak transcription	Fetal Kidney	kidney
31	chr8:119936600-119936800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:119936600-119936800	Weak transcription	Lung	lung
33	chr8:119936600-119937000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:119936600-119937000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:119936600-119937000	Strong transcription	HSMM	muscle
36	chr8:119936600-119937000	Genic enhancers	NHLF	lung
37	chr8:119936600-119938000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:119936600-119946800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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