Variant report

Variant	rs10483543
Chromosome Location	chr14:39506353-39506354
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39506080..39508862-chr14:39528355..39530994,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10129762	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10131369	0.91[AMR][1000 genomes]
rs10134166	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10134656	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10139666	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140763	0.91[AMR][1000 genomes]
rs10141079	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10141081	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10142117	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10150756	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10151124	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151960	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1040680	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11622731	0.88[CEU][hapmap];0.91[AMR][1000 genomes]
rs11623907	0.89[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11623945	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11625689	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11627264	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11628480	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11628564	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11628784	0.87[EUR][1000 genomes]
rs11845793	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11848067	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12323565	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12587208	0.88[CEU][hapmap];0.91[AMR][1000 genomes]
rs12590373	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17092044	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17092050	0.91[AMR][1000 genomes]
rs17108596	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17108664	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17108696	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1884384	0.89[CHB][hapmap];0.85[ASN][1000 genomes]
rs2025061	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2144528	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28414518	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28470602	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28821293	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3896147	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55672305	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55737943	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56064304	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56105133	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56785762	0.82[ASN][1000 genomes]
rs57326310	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57482489	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58601678	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59465524	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7144625	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7159520	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs743223	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8019396	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs926970	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs993675	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr14:39487200-39508600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:39495400-39518200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:39495600-39509800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:39495800-39516000	Weak transcription	Stomach Mucosa	stomach
5	chr14:39496000-39514800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:39496000-39520400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:39496600-39507800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:39497400-39518000	Strong transcription	HSMM	muscle
9	chr14:39497400-39519200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:39497600-39507600	Weak transcription	Brain Germinal Matrix	brain
11	chr14:39497800-39520400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:39497800-39521200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:39498000-39510000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:39498000-39518400	Strong transcription	Osteobl	bone
15	chr14:39498000-39518600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:39498000-39524200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:39498200-39507600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr14:39498200-39509400	Weak transcription	Fetal Brain Male	brain
19	chr14:39498200-39510200	Strong transcription	Placenta	Placenta
20	chr14:39498200-39519400	Strong transcription	NH-A	brain
21	chr14:39498200-39524200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:39498200-39524400	Strong transcription	Fetal Intestine Large	intestine
23	chr14:39498400-39520000	Strong transcription	HepG2	liver
24	chr14:39498400-39524800	Weak transcription	K562	blood
25	chr14:39498600-39510000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr14:39498600-39518000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:39498600-39519600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:39498600-39524000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr14:39498600-39524800	Strong transcription	Adipose Nuclei	Adipose
30	chr14:39499000-39507800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr14:39499000-39510200	Strong transcription	NHDF-Ad	bronchial
32	chr14:39499000-39510400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:39499000-39510400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr14:39499000-39510400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr14:39499000-39523200	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr14:39499000-39523600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr14:39499000-39524200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr14:39499000-39524800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr14:39499000-39524800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:39499000-39525000	Strong transcription	Liver	Liver
41	chr14:39499600-39524600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr14:39499800-39509000	Weak transcription	Brain Substantia Nigra	brain
43	chr14:39500000-39512600	Weak transcription	Aorta	Aorta
44	chr14:39500000-39519800	Weak transcription	Pancreas	Pancrea
45	chr14:39500000-39521000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr14:39500000-39522800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:39500000-39524400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr14:39500000-39524800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:39500000-39525000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr14:39500200-39509600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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