Variant report

Variant	rs227448
Chromosome Location	chr14:70439776-70439777
allele	C/T
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: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1007288	0.82[CHD][hapmap]
rs10142998	0.87[CHD][hapmap];0.87[GIH][hapmap]
rs1037802	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11848845	0.82[CHD][hapmap];0.85[GIH][hapmap]
rs12881989	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12885374	0.85[CHD][hapmap];0.83[GIH][hapmap]
rs12897618	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1380430	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1547088	0.85[CHD][hapmap];0.85[GIH][hapmap]
rs170566	0.82[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs186599	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1903200	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2035011	0.85[CHD][hapmap];0.85[GIH][hapmap]
rs227447	0.99[ASN][1000 genomes]
rs3742909	0.83[CHD][hapmap]
rs6573919	0.83[CHD][hapmap];0.85[GIH][hapmap]
rs7142362	0.83[CHD][hapmap];0.85[GIH][hapmap]
rs7145638	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7149785	0.81[CEU][hapmap];0.92[GIH][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7152091	0.85[CEU][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7157289	0.85[CHD][hapmap];0.85[GIH][hapmap]
rs7157956	0.85[CEU][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8003166	0.85[CHD][hapmap];0.85[GIH][hapmap]
rs8004069	0.83[CHD][hapmap];0.87[GIH][hapmap]
rs8011726	0.85[CHD][hapmap];0.85[GIH][hapmap]
rs927413	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][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:39 , 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	chr14:70438000-70439800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr14:70438200-70440200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:70438400-70440000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr14:70438600-70441200	Enhancers	Brain Substantia Nigra	brain
17	chr14:70438800-70439800	Enhancers	Brain Cingulate Gyrus	brain
18	chr14:70439000-70439800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:70439000-70439800	Enhancers	Right Atrium	heart
20	chr14:70439000-70440000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:70439000-70440000	Enhancers	Brain Anterior Caudate	brain
22	chr14:70439000-70440000	Enhancers	Brain Hippocampus Middle	brain
23	chr14:70439000-70440200	Enhancers	Fetal Intestine Large	intestine
24	chr14:70439000-70458800	Weak transcription	Gastric	stomach
25	chr14:70439200-70439800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:70439200-70440000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:70439200-70440000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:70439200-70440000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr14:70439200-70441000	Weak transcription	HepG2	liver
30	chr14:70439200-70443600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:70439400-70439800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:70439400-70439800	Enhancers	Brain Angular Gyrus	brain
33	chr14:70439400-70440000	Enhancers	HMEC	breast
34	chr14:70439400-70440400	Enhancers	Adipose Nuclei	Adipose
35	chr14:70439400-70441400	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:70439600-70439800	ZNF genes & repeats	Spleen	Spleen
37	chr14:70439600-70440200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:70439600-70445600	Weak transcription	Fetal Brain Female	brain
39	chr14:70439600-70447000	Weak transcription	Fetal Intestine Small	intestine

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