Variant report

Variant	rs2284233
Chromosome Location	chr14:78162617-78162618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10134425	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10138747	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10139492	0.92[ASN][1000 genomes]
rs10143249	0.87[ASN][1000 genomes]
rs10143294	0.90[ASN][1000 genomes]
rs10144448	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10146255	0.87[ASN][1000 genomes]
rs10483885	0.98[ASN][1000 genomes]
rs114763	0.95[ASN][1000 genomes]
rs11621719	0.84[ASN][1000 genomes]
rs11622761	0.84[ASN][1000 genomes]
rs11624118	0.83[ASN][1000 genomes]
rs11846215	0.80[ASN][1000 genomes]
rs12879880	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12887313	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12890828	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1477263	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1477264	0.89[ASN][1000 genomes]
rs176941	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176947	0.92[ASN][1000 genomes]
rs176948	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176954	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176956	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176959	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176961	0.95[ASN][1000 genomes]
rs176963	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs176964	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs176965	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs176968	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs176969	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs176970	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs176972	0.95[ASN][1000 genomes]
rs176975	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs176976	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs176977	0.92[ASN][1000 genomes]
rs2080703	0.90[ASN][1000 genomes]
rs2267756	0.90[ASN][1000 genomes]
rs2267762	0.89[ASN][1000 genomes]
rs2267763	0.90[ASN][1000 genomes]
rs2267764	0.90[ASN][1000 genomes]
rs2267766	0.86[AMR][1000 genomes]
rs2277917	0.89[ASN][1000 genomes]
rs2284234	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2284235	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3783981	0.90[ASN][1000 genomes]
rs3783982	0.90[ASN][1000 genomes]
rs4641655	0.87[ASN][1000 genomes]
rs4899670	0.92[ASN][1000 genomes]
rs4899673	0.98[ASN][1000 genomes]
rs4899674	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4903638	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61992867	0.81[ASN][1000 genomes]
rs61992868	0.81[ASN][1000 genomes]
rs6574392	0.92[ASN][1000 genomes]
rs6574394	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6574399	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7143926	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7145717	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7148078	0.90[ASN][1000 genomes]
rs7148126	0.90[ASN][1000 genomes]
rs7150531	0.85[ASN][1000 genomes]
rs7151685	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7154571	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7159310	0.82[EUR][1000 genomes]
rs7160355	0.91[ASN][1000 genomes]
rs717682	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72210300	0.81[ASN][1000 genomes]
rs759713	0.92[ASN][1000 genomes]
rs8010541	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8015645	0.91[ASN][1000 genomes]
rs8022516	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9323649	0.90[ASN][1000 genomes]
rs9323651	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv520021	chr14:78152921-78208294	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78127400-78173200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:78134400-78163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:78136200-78162800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:78138000-78171800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:78140400-78172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:78140600-78173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:78141200-78162800	Weak transcription	Colonic Mucosa	Colon
8	chr14:78142600-78162800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:78148400-78162800	Weak transcription	Aorta	Aorta
10	chr14:78148400-78162800	Weak transcription	Pancreas	Pancrea
11	chr14:78148400-78164400	Weak transcription	Psoas Muscle	Psoas
12	chr14:78148600-78162800	Weak transcription	NHLF	lung
13	chr14:78149200-78163800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:78149200-78171400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:78149800-78163000	Weak transcription	Stomach Mucosa	stomach
16	chr14:78149800-78164200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:78150200-78163800	Strong transcription	Fetal Muscle Leg	muscle
18	chr14:78150400-78172200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:78152200-78164200	Strong transcription	Liver	Liver
20	chr14:78152200-78164600	Strong transcription	Adipose Nuclei	Adipose
21	chr14:78152400-78171200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:78152600-78172200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:78152800-78165400	Strong transcription	Placenta	Placenta
24	chr14:78152800-78171400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr14:78153400-78163000	Weak transcription	Right Ventricle	heart
26	chr14:78153400-78171200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr14:78153400-78171400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr14:78153400-78172000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr14:78154400-78168800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:78154400-78172600	Weak transcription	Small Intestine	intestine
31	chr14:78154600-78167200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:78155400-78163600	Strong transcription	HSMM	muscle
33	chr14:78155400-78163800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:78155600-78163800	Strong transcription	Fetal Brain Female	brain
35	chr14:78155600-78164000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:78155600-78164800	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr14:78155800-78163800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:78155800-78165600	Strong transcription	Primary T cells from cord blood	blood
39	chr14:78156000-78171400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:78156200-78163800	Strong transcription	Fetal Thymus	thymus
41	chr14:78156200-78164000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:78156200-78165000	Strong transcription	Primary B cells from cord blood	blood
43	chr14:78156200-78165200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:78156200-78165800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:78156200-78172000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:78156400-78162800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr14:78156400-78163800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr14:78156400-78164400	Strong transcription	Thymus	Thymus
49	chr14:78156600-78163600	Strong transcription	K562	blood
50	chr14:78156600-78163800	Strong transcription	Duodenum Mucosa	Duodenum

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