Variant report

Variant	rs3783981
Chromosome Location	chr14:78141858-78141859
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	chr14:78139849..78142125-chr14:78173577..78176178,2	K562	blood:
2	chr14:78124444..78126288-chr14:78139672..78142055,2	K562	blood:

Variant related genes	Relation type
ENSG00000119705	Chromatin interaction
ENSG00000100601	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10134425	0.92[ASN][1000 genomes]
rs10138747	0.85[ASN][1000 genomes]
rs10139492	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10143249	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10143294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144448	0.87[ASN][1000 genomes]
rs10146255	0.85[ASN][1000 genomes]
rs10483885	0.92[ASN][1000 genomes]
rs114763	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11621719	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11622761	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11624103	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11624118	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11628838	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11846215	0.81[ASN][1000 genomes]
rs12879880	0.87[ASN][1000 genomes]
rs12887313	0.85[ASN][1000 genomes]
rs12890828	0.82[ASN][1000 genomes]
rs1477263	0.87[ASN][1000 genomes]
rs1477264	0.87[ASN][1000 genomes]
rs176941	0.93[ASN][1000 genomes]
rs176947	0.88[ASN][1000 genomes]
rs176948	0.93[ASN][1000 genomes]
rs176954	0.93[ASN][1000 genomes]
rs176956	0.93[ASN][1000 genomes]
rs176959	0.93[ASN][1000 genomes]
rs176961	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176963	0.92[ASN][1000 genomes]
rs176964	0.92[ASN][1000 genomes]
rs176965	0.92[ASN][1000 genomes]
rs176968	0.92[ASN][1000 genomes]
rs176969	0.92[ASN][1000 genomes]
rs176970	0.92[ASN][1000 genomes]
rs176972	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs176975	0.92[ASN][1000 genomes]
rs176976	0.92[ASN][1000 genomes]
rs176977	0.88[ASN][1000 genomes]
rs2080703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2111831	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2267756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267766	0.82[ASN][1000 genomes]
rs2277917	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2284233	0.90[ASN][1000 genomes]
rs2284234	0.92[ASN][1000 genomes]
rs2284235	0.92[ASN][1000 genomes]
rs3783982	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4641655	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4899670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4899673	0.92[ASN][1000 genomes]
rs4899674	0.91[ASN][1000 genomes]
rs4903627	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4903638	0.87[ASN][1000 genomes]
rs61992863	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61992864	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61992867	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61992868	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6574392	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6574394	0.89[ASN][1000 genomes]
rs6574399	0.87[ASN][1000 genomes]
rs7141469	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7142262	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7143075	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7143926	0.92[ASN][1000 genomes]
rs7145717	0.87[ASN][1000 genomes]
rs7148078	0.88[ASN][1000 genomes]
rs7148126	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7150531	0.86[ASN][1000 genomes]
rs7151685	0.87[ASN][1000 genomes]
rs7154571	0.83[ASN][1000 genomes]
rs7159821	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7159992	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7160003	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7160355	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs717682	0.87[ASN][1000 genomes]
rs759713	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8010541	0.89[ASN][1000 genomes]
rs8015645	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8022516	0.91[ASN][1000 genomes]
rs9323649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323651	0.87[ASN][1000 genomes]
rs9788619	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	nsv869872	chr14:78119527-78161340	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	esv3693172	chr14:78130479-78152921	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr14:78128000-78157800	Weak transcription	Fetal Brain Male	brain
3	chr14:78129800-78147600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:78134200-78148000	Weak transcription	NH-A	brain
5	chr14:78134400-78163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:78135200-78156200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:78136200-78148000	Weak transcription	HSMMtube	muscle
8	chr14:78136200-78162800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:78137400-78143200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:78137400-78146400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:78137800-78146600	Strong transcription	Placenta	Placenta
12	chr14:78137800-78148400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:78137800-78161200	Weak transcription	Fetal Heart	heart
14	chr14:78138000-78142000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr14:78138000-78142200	Strong transcription	Adipose Nuclei	Adipose
16	chr14:78138000-78142600	Strong transcription	Fetal Brain Female	brain
17	chr14:78138000-78142600	Strong transcription	Fetal Lung	lung
18	chr14:78138000-78145600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:78138000-78146400	Strong transcription	Primary B cells from cord blood	blood
20	chr14:78138000-78146600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:78138000-78146800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr14:78138000-78147200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr14:78138000-78148000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:78138000-78171800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr14:78138200-78142200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:78138200-78142800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:78138200-78146600	Strong transcription	Primary T cells from cord blood	blood
28	chr14:78138200-78147600	Weak transcription	Psoas Muscle	Psoas
29	chr14:78138200-78148400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:78138200-78154400	Strong transcription	Dnd41	blood
31	chr14:78138600-78142200	Strong transcription	Brain Hippocampus Middle	brain
32	chr14:78138600-78142200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:78138600-78142200	Strong transcription	Fetal Thymus	thymus
34	chr14:78138600-78142800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:78138600-78142800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:78138600-78146600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr14:78138600-78146600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr14:78138800-78142200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:78138800-78142600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr14:78138800-78142600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:78138800-78142600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr14:78138800-78142800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr14:78138800-78143000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:78138800-78145000	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr14:78138800-78146400	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:78138800-78146600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr14:78138800-78146600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:78138800-78146600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:78138800-78146800	Strong transcription	Liver	Liver
50	chr14:78138800-78147000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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