Variant report

Variant	rs2411818
Chromosome Location	chr14:65947406-65947407
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65942437..65944231-chr14:65945915..65948475,2	K562	blood:
2	chr14:65942071..65945290-chr14:65946975..65950511,4	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10129187	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10129732	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10130560	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10133167	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133902	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10133903	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10135594	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10135934	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10136412	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10136763	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10141293	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10143822	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10145561	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10145993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10145996	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10146179	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10151921	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10162379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10162474	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10162506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10220303	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10220304	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10483775	0.87[EUR][1000 genomes]
rs10483779	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10483784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12588029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13379147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13379229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102686	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102836	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102844	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17779061	0.81[AMR][1000 genomes]
rs1813030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1950559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1953419	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1958562	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1959146	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1959147	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1959148	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2002691	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2092915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2411814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2411819	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28373922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28390075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28427101	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28430347	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28452027	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28694288	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28695252	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28830595	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28871950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2898817	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2898819	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3783707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3783712	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4516142	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45549535	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57638372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58170348	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59970730	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6573623	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7140251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7141326	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7145319	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7145834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7148401	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7160505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73284130	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73284149	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73284201	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8003664	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8015947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9323462	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs945319	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9972109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65928600-65949400	Weak transcription	Psoas Muscle	Psoas
2	chr14:65931400-65966200	Weak transcription	Aorta	Aorta
3	chr14:65936600-65957400	Weak transcription	Primary B cells from cord blood	blood
4	chr14:65937200-65949600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:65937400-65961600	Weak transcription	Fetal Intestine Large	intestine
6	chr14:65937600-65949600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:65938000-65952000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:65938400-65963400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr14:65938600-65949600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:65938800-65952000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr14:65939000-65949000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:65939000-65949200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:65939000-65969400	Weak transcription	Dnd41	blood
14	chr14:65939200-65949400	Weak transcription	Ovary	ovary
15	chr14:65940000-65949400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:65940600-65959400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr14:65942600-65949600	Weak transcription	Fetal Intestine Small	intestine
18	chr14:65943200-65951800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:65943600-65947600	Weak transcription	Small Intestine	intestine
20	chr14:65945200-65948000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr14:65945200-65950600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:65945200-65980000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr14:65945600-65947800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:65945600-65949200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:65945600-65949200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:65945600-65949200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr14:65945600-65949400	Weak transcription	Brain Germinal Matrix	brain
28	chr14:65945600-65949600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:65945600-65959000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:65945800-65948200	Weak transcription	Brain Hippocampus Middle	brain
31	chr14:65945800-65949000	Weak transcription	Colon Smooth Muscle	Colon
32	chr14:65945800-65949200	Weak transcription	Stomach Mucosa	stomach
33	chr14:65945800-65949400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:65946000-65947600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:65946000-65949000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:65946000-65949200	Weak transcription	NHDF-Ad	bronchial
37	chr14:65946000-65949600	Weak transcription	Osteobl	bone
38	chr14:65946000-65954400	Weak transcription	Primary T cells from cord blood	blood
39	chr14:65946200-65947800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:65946400-65947800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:65946400-65949000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:65946400-65949200	Weak transcription	Brain Substantia Nigra	brain
43	chr14:65946400-65949200	Weak transcription	K562	blood
44	chr14:65946400-65949400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:65946400-65949600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:65946400-65949600	Weak transcription	NH-A	brain
47	chr14:65946400-65954800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:65946600-65947800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr14:65946800-65949000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:65946800-65949200	Weak transcription	Brain Angular Gyrus	brain

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