Variant report

Variant	rs55956950
Chromosome Location	chr8:49049782-49049783
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	chr8:48909455..48910993-chr8:49046960..49049925,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11991972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12114205	1.00[AMR][1000 genomes]
rs12114564	1.00[AMR][1000 genomes]
rs4304348	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4546687	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4546688	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4609219	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4637865	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55708513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55770276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56102090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57688729	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57834756	1.00[AMR][1000 genomes]
rs58045776	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58175922	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58431112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58555026	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59517761	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59634313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60463191	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61602855	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005646	0.81[AFR][1000 genomes]
rs73678239	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678243	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678245	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678246	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678259	1.00[AMR][1000 genomes]
rs7465660	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843537	1.00[AMR][1000 genomes];1.00[EUR][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	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49044600-49051600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:49048400-49050000	Enhancers	Gastric	stomach
3	chr8:49048400-49050200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:49048400-49050200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:49048800-49049800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:49048800-49049800	Enhancers	HepG2	liver
7	chr8:49048800-49050000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:49048800-49050400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:49049000-49050000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr8:49049000-49050000	Enhancers	Pancreas	Pancrea
11	chr8:49049000-49050200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:49049000-49050200	Enhancers	Fetal Intestine Small	intestine
13	chr8:49049000-49050400	Enhancers	Fetal Intestine Large	intestine
14	chr8:49049200-49049800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:49049200-49050000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr8:49049200-49050000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr8:49049200-49050000	Enhancers	Fetal Heart	heart
18	chr8:49049200-49050000	Enhancers	Stomach Mucosa	stomach
19	chr8:49049200-49050200	Enhancers	K562	blood
20	chr8:49049400-49049800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr8:49049400-49050000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr8:49049400-49050000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:49049400-49050000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:49049400-49050000	Enhancers	Fetal Lung	lung
25	chr8:49049400-49050000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:49049400-49050000	Enhancers	NHEK	skin
27	chr8:49049400-49050200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:49049400-49050200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr8:49049600-49049800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr8:49049600-49049800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr8:49049600-49049800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:49049600-49050000	Flanking Active TSS	Hela-S3	cervix
33	chr8:49049600-49050200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:49049600-49050600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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