Variant report

Variant	rs227447
Chromosome Location	chr14:70439856-70439857
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70400669..70402672-chr14:70439209..70441810,2	K562	blood:
2	chr14:70432306..70435336-chr14:70437963..70441360,3	MCF-7	breast:
3	chr14:70439245..70443194-chr14:70444532..70447798,3	MCF-7	breast:
4	chr14:70438502..70441273-chr14:70479429..70481883,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12883649	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs170566	0.93[ASN][1000 genomes]
rs186599	0.98[ASN][1000 genomes]
rs227445	0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs227446	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs227448	0.99[ASN][1000 genomes]
rs2757704	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70415800-70444600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:70418800-70448600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:70429800-70450000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:70430400-70447000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:70433200-70454000	Strong transcription	Liver	Liver
6	chr14:70433600-70445800	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:70435400-70440200	Weak transcription	Brain Germinal Matrix	brain
8	chr14:70435400-70443800	Weak transcription	Fetal Stomach	stomach
9	chr14:70435400-70447000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:70436400-70440600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:70436800-70443600	Weak transcription	Fetal Brain Male	brain
12	chr14:70437600-70447000	Strong transcription	Hela-S3	cervix
13	chr14:70438200-70440200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:70438400-70440000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr14:70438600-70441200	Enhancers	Brain Substantia Nigra	brain
16	chr14:70439000-70440000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:70439000-70440000	Enhancers	Brain Anterior Caudate	brain
18	chr14:70439000-70440000	Enhancers	Brain Hippocampus Middle	brain
19	chr14:70439000-70440200	Enhancers	Fetal Intestine Large	intestine
20	chr14:70439000-70458800	Weak transcription	Gastric	stomach
21	chr14:70439200-70440000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:70439200-70440000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:70439200-70440000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr14:70439200-70441000	Weak transcription	HepG2	liver
25	chr14:70439200-70443600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:70439400-70440000	Enhancers	HMEC	breast
27	chr14:70439400-70440400	Enhancers	Adipose Nuclei	Adipose
28	chr14:70439400-70441400	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:70439600-70440200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:70439600-70445600	Weak transcription	Fetal Brain Female	brain
31	chr14:70439600-70447000	Weak transcription	Fetal Intestine Small	intestine
32	chr14:70439800-70440200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:70439800-70440400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:70439800-70440800	Weak transcription	Right Atrium	heart
35	chr14:70439800-70444200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:70439800-70446000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr14:70439800-70477200	Weak transcription	Spleen	Spleen

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