Variant report

Variant	rs1815581
Chromosome Location	chr14:55867369-55867370
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10131913	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10131926	0.82[AMR][1000 genomes]
rs10136596	0.93[EUR][1000 genomes]
rs10137307	0.90[EUR][1000 genomes]
rs10139000	0.93[EUR][1000 genomes]
rs10141483	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10142448	0.93[EUR][1000 genomes]
rs10142547	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10142823	0.81[AMR][1000 genomes]
rs10144345	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10144418	0.90[EUR][1000 genomes]
rs10145203	0.81[EUR][1000 genomes]
rs10147765	0.93[EUR][1000 genomes]
rs10149420	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10150699	0.80[AMR][1000 genomes]
rs10150760	0.93[EUR][1000 genomes]
rs1045002	0.93[EUR][1000 genomes]
rs10467798	0.82[AMR][1000 genomes]
rs1109170	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11625423	0.82[EUR][1000 genomes]
rs11625968	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11626751	0.92[EUR][1000 genomes]
rs11851169	0.93[EUR][1000 genomes]
rs13379169	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1572611	0.89[EUR][1000 genomes]
rs17128440	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17674463	0.93[EUR][1000 genomes]
rs17674563	0.90[EUR][1000 genomes]
rs17675223	0.81[ASN][1000 genomes]
rs17741542	0.93[EUR][1000 genomes]
rs17741831	0.93[EUR][1000 genomes]
rs1815580	0.90[EUR][1000 genomes]
rs2009291	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2016931	0.93[EUR][1000 genomes]
rs2182797	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2209808	0.90[EUR][1000 genomes]
rs2341621	0.82[AMR][1000 genomes]
rs2341622	0.82[AMR][1000 genomes]
rs28428911	0.93[EUR][1000 genomes]
rs28430823	0.93[EUR][1000 genomes]
rs28493647	0.93[EUR][1000 genomes]
rs28568813	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28612464	0.93[EUR][1000 genomes]
rs28631821	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28660594	0.93[EUR][1000 genomes]
rs28716725	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3742569	0.93[EUR][1000 genomes]
rs3783648	0.90[EUR][1000 genomes]
rs3783650	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3783652	0.93[EUR][1000 genomes]
rs3825616	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4366639	0.82[EUR][1000 genomes]
rs4496026	0.82[EUR][1000 genomes]
rs4597235	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56270323	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56949365	0.82[EUR][1000 genomes]
rs61210954	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6573009	0.82[AMR][1000 genomes]
rs6573010	0.83[AMR][1000 genomes]
rs6573014	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6573017	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6573020	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66486619	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7142857	0.82[AMR][1000 genomes]
rs7144292	0.82[AMR][1000 genomes]
rs7144737	0.93[EUR][1000 genomes]
rs7145727	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7146748	0.80[EUR][1000 genomes]
rs7146752	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7147136	0.90[EUR][1000 genomes]
rs7148171	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7153110	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7153612	0.81[EUR][1000 genomes]
rs7154889	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7158768	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7159144	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8006525	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8008119	0.93[EUR][1000 genomes]
rs8013713	0.93[EUR][1000 genomes]
rs8022041	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8022225	0.83[AMR][1000 genomes]
rs9323284	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9323285	0.81[ASN][1000 genomes]
rs943590	0.80[EUR][1000 genomes]
rs946059	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9919926	0.90[EUR][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	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv901959	chr14:55853724-55916225	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
4	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55818200-55877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:55836800-55877800	Weak transcription	Esophagus	oesophagus
3	chr14:55848600-55876600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:55849200-55876600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:55849200-55878000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:55850000-55868400	Weak transcription	Right Ventricle	heart
7	chr14:55851000-55871000	Weak transcription	Pancreas	Pancrea
8	chr14:55852000-55877200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:55853000-55877200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:55854000-55868400	Weak transcription	Gastric	stomach
11	chr14:55854200-55871000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:55854800-55878000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:55856200-55868600	Weak transcription	Psoas Muscle	Psoas
14	chr14:55856200-55876200	Weak transcription	Fetal Brain Male	brain
15	chr14:55856200-55878000	Weak transcription	Spleen	Spleen
16	chr14:55856400-55870400	Weak transcription	GM12878-XiMat	blood
17	chr14:55856400-55876800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:55856400-55877600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:55856600-55869800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr14:55856600-55876600	Weak transcription	Fetal Brain Female	brain
21	chr14:55856800-55875600	Weak transcription	Dnd41	blood
22	chr14:55856800-55877200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:55859200-55874200	Weak transcription	Fetal Stomach	stomach
24	chr14:55860600-55877800	Weak transcription	Lung	lung
25	chr14:55862000-55876000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:55862000-55876200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr14:55862000-55876400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:55862000-55876800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:55862200-55873600	Weak transcription	Fetal Intestine Small	intestine
30	chr14:55862200-55876200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr14:55862200-55876400	Weak transcription	Brain Germinal Matrix	brain
32	chr14:55862200-55877000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr14:55862200-55877600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:55862400-55876200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr14:55862400-55876200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:55862400-55877200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr14:55862600-55877400	Weak transcription	Fetal Thymus	thymus
38	chr14:55862800-55876000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:55862800-55876800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr14:55862800-55877200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:55863400-55868200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:55863400-55876600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:55863400-55876600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr14:55863400-55877600	Weak transcription	Placenta	Placenta
45	chr14:55863600-55877400	Weak transcription	Thymus	Thymus
46	chr14:55863800-55876600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:55864000-55867400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:55864000-55868400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr14:55864000-55871000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr14:55864000-55871200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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