Variant report

Variant	rs1478675
Chromosome Location	chr8:114444340-114444341
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	chr8:114435797..114438781-chr8:114443874..114445936,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11985048	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985054	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985190	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985229	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985340	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11986021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11986815	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11987699	1.00[YRI][hapmap]
rs11987994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11989015	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11991205	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11991252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11991363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11992559	1.00[YRI][hapmap]
rs11993804	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11993856	1.00[YRI][hapmap]
rs11995017	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11997481	1.00[YRI][hapmap]
rs1513528	1.00[AFR][1000 genomes];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:35 , 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	chr8:114444000-114444400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
4	chr8:114444000-114444400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr8:114444000-114444400	Active TSS	Brain Anterior Caudate	brain
6	chr8:114444000-114444400	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr8:114444000-114444400	Bivalent Enhancer	Fetal Brain Male	brain
8	chr8:114444000-114444600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:114444000-114445000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr8:114444000-114445400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:114444000-114445800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
12	chr8:114444000-114446800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:114444200-114444400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr8:114444200-114444400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:114444200-114444400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr8:114444200-114444400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:114444200-114444400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:114444200-114444400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:114444200-114444400	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr8:114444200-114444400	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr8:114444200-114444400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr8:114444200-114444600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
23	chr8:114444200-114444600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
24	chr8:114444200-114444600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
25	chr8:114444200-114444800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
26	chr8:114444200-114444800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:114444200-114445000	Flanking Active TSS	Brain Angular Gyrus	brain
28	chr8:114444200-114445200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:114444200-114445800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:114444200-114446000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
31	chr8:114444200-114446200	Bivalent Enhancer	Fetal Heart	heart
32	chr8:114444200-114446200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
33	chr8:114444200-114446400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
34	chr8:114444200-114446400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
35	chr8:114444200-114450800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links