Variant report

Variant	rs16884683
Chromosome Location	chr8:114446249-114446250
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:114441726..114443315-chr8:114445051..114447307,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10106338	1.00[AMR][1000 genomes]
rs10107745	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10109289	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10216929	1.00[AMR][1000 genomes]
rs10283068	1.00[AMR][1000 genomes]
rs12334661	1.00[AMR][1000 genomes]
rs16892652	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28436273	1.00[AMR][1000 genomes]
rs6989956	1.00[AMR][1000 genomes]
rs6990249	1.00[AMR][1000 genomes]
rs7003003	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9297491	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817379	chr8:114338391-115011632	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2754463	chr8:114353649-114501547	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2761461	chr8:114420164-114462173	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv831429	chr8:114438561-114595565	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114443800-114450200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:114443800-114450400	Active TSS	Brain Substantia Nigra	brain
3	chr8:114444000-114446800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:114444200-114446400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
5	chr8:114444200-114446400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
6	chr8:114444200-114450800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:114444400-114446400	Bivalent Enhancer	Liver	Liver
8	chr8:114444400-114446400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
9	chr8:114444400-114446600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
10	chr8:114444400-114450200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
11	chr8:114444400-114450600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
12	chr8:114444600-114446400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:114444800-114446400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
14	chr8:114445000-114446400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:114445000-114446400	Bivalent/Poised TSS	Psoas Muscle	Psoas
16	chr8:114445200-114449200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr8:114445400-114447000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
18	chr8:114445800-114446400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:114445800-114446400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:114445800-114446400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
21	chr8:114445800-114446600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:114445800-114446600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
23	chr8:114445800-114447000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:114446000-114446400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
25	chr8:114446000-114446400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:114446000-114446400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:114446000-114446400	Flanking Active TSS	Brain Angular Gyrus	brain
28	chr8:114446000-114446600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:114446000-114446600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:114446000-114446800	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr8:114446000-114447000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
32	chr8:114446000-114447000	Bivalent Enhancer	Colon Smooth Muscle	Colon
33	chr8:114446000-114447000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr8:114446200-114446400	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:114446200-114446400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:114446200-114446400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
37	chr8:114446200-114446400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:114446200-114446400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
39	chr8:114446200-114446400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
40	chr8:114446200-114446400	Bivalent Enhancer	Fetal Stomach	stomach
41	chr8:114446200-114446400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
42	chr8:114446200-114446600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
43	chr8:114446200-114446600	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr8:114446200-114446800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
45	chr8:114446200-114446800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
46	chr8:114446200-114446800	Bivalent Enhancer	Fetal Lung	lung
47	chr8:114446200-114447000	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links