Variant report

Variant	rs16889050
Chromosome Location	chr8:117879369-117879370
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr8:117878859-117879621	HEK293	kidney:	n/a	n/a
2	MAFK	chr8:117879354-117879573	HepG2	liver:	n/a	n/a
3	GATA3	chr8:117879162-117879707	SK-N-SH	brain:	n/a	chr8:117879371-117879381
4	FAM48A	chr8:117879340-117879378	GM12878	blood:	n/a	n/a
5	GATA3	chr8:117879204-117879463	SH-SY5Y	brain:	n/a	chr8:117879371-117879381

Variant related genes	Relation type
RAD21	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1050838	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12543767	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888862	1.00[AFR][1000 genomes]
rs16888887	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16889012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289938	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3816342	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989717	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117853000-117881400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:117856400-117882000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:117859600-117883800	Weak transcription	Stomach Mucosa	stomach
4	chr8:117860400-117885800	Weak transcription	Esophagus	oesophagus
5	chr8:117864400-117882400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:117864400-117885800	Weak transcription	Gastric	stomach
7	chr8:117864800-117884000	Weak transcription	Right Ventricle	heart
8	chr8:117865200-117882400	Weak transcription	Lung	lung
9	chr8:117865200-117885800	Weak transcription	Pancreas	Pancrea
10	chr8:117865600-117881600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:117865600-117885800	Weak transcription	Spleen	Spleen
12	chr8:117867000-117885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:117867000-117885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:117868600-117881000	Weak transcription	Fetal Brain Male	brain
15	chr8:117870000-117884400	Weak transcription	Colonic Mucosa	Colon
16	chr8:117870200-117884800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:117872600-117884400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:117873000-117879400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:117873000-117882600	Weak transcription	Fetal Kidney	kidney
20	chr8:117873800-117883000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:117875200-117880400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr8:117876000-117880200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:117876000-117881400	Weak transcription	NHLF	lung
24	chr8:117876000-117882400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:117876000-117884600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:117876200-117879400	Weak transcription	Fetal Brain Female	brain
27	chr8:117876200-117881000	Weak transcription	Thymus	Thymus
28	chr8:117876200-117881400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:117876200-117881400	Weak transcription	Left Ventricle	heart
30	chr8:117876200-117881600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:117876200-117882800	Weak transcription	NH-A	brain
32	chr8:117876200-117883200	Weak transcription	Fetal Intestine Large	intestine
33	chr8:117877000-117879400	Enhancers	Adipose Nuclei	Adipose
34	chr8:117877000-117879600	Enhancers	Liver	Liver
35	chr8:117877000-117879800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr8:117877000-117880200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr8:117877000-117880200	Enhancers	Brain Angular Gyrus	brain
38	chr8:117877000-117880600	Enhancers	Brain Cingulate Gyrus	brain
39	chr8:117877200-117884000	Transcr. at gene 5' and 3'	Dnd41	blood
40	chr8:117877400-117879400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:117877400-117881000	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:117877400-117881400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:117877400-117885000	Enhancers	Fetal Heart	heart
44	chr8:117877600-117881000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr8:117877600-117882200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:117877800-117879400	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr8:117877800-117880800	Enhancers	HepG2	liver
48	chr8:117877800-117881400	Weak transcription	HMEC	breast
49	chr8:117877800-117881400	Weak transcription	NHEK	skin
50	chr8:117877800-117884400	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links