Variant report

Variant	rs1255972
Chromosome Location	chr14:64532107-64532108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10132638	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10138253	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145787	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11621129	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11622913	0.80[EUR][1000 genomes]
rs1255949	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1255953	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1255954	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1255956	0.89[AFR][1000 genomes]
rs1255957	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1255959	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255962	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1255963	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1255965	0.81[EUR][1000 genomes]
rs1255966	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255967	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255969	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1255970	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255971	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255974	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255975	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1262240	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1266925	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1954051	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2153476	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2185453	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357342	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2357343	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2357344	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2357345	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28607037	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28669707	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2884158	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3829767	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4027402	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4027403	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4566057	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4617770	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4899132	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902264	0.83[EUR][1000 genomes]
rs6573543	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7158401	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7158815	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8010699	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010911	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011969	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8016043	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs963289	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9783605	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:64481400-64574000	Weak transcription	Stomach Mucosa	stomach
3	chr14:64489400-64568600	Weak transcription	Small Intestine	intestine
4	chr14:64491200-64565200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:64492200-64547400	Weak transcription	Colonic Mucosa	Colon
6	chr14:64499000-64538800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:64516600-64541400	Weak transcription	HSMM	muscle
8	chr14:64519000-64541000	Weak transcription	HUVEC	blood vessel
9	chr14:64519200-64533200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:64519400-64592000	Weak transcription	Fetal Brain Male	brain
11	chr14:64519600-64539000	Weak transcription	Right Ventricle	heart
12	chr14:64519600-64545200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr14:64519800-64534600	Weak transcription	Fetal Lung	lung
14	chr14:64520400-64537400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:64520400-64539000	Weak transcription	Liver	Liver
16	chr14:64521000-64540800	Weak transcription	Psoas Muscle	Psoas
17	chr14:64523000-64532200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr14:64525400-64535400	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:64525400-64566600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr14:64526000-64552200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:64526600-64536000	Weak transcription	Fetal Brain Female	brain
22	chr14:64526800-64534000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:64526800-64539000	Weak transcription	Fetal Thymus	thymus
24	chr14:64526800-64540400	Weak transcription	Fetal Kidney	kidney
25	chr14:64526800-64577000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr14:64527000-64532200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr14:64527000-64539600	Weak transcription	Ovary	ovary
28	chr14:64527000-64540200	Weak transcription	Primary B cells from cord blood	blood
29	chr14:64527000-64540800	Weak transcription	Spleen	Spleen
30	chr14:64527000-64547200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:64527200-64539000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:64527400-64534200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr14:64527400-64538400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:64527600-64532800	Weak transcription	Brain Germinal Matrix	brain
35	chr14:64527600-64532800	Weak transcription	Fetal Intestine Large	intestine
36	chr14:64527600-64539000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr14:64527600-64551800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:64527800-64532200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr14:64527800-64532800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr14:64527800-64534800	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:64527800-64536000	Weak transcription	Pancreas	Pancrea
42	chr14:64527800-64536200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:64527800-64540400	Weak transcription	Hela-S3	cervix
44	chr14:64527800-64540800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:64527800-64540800	Weak transcription	Esophagus	oesophagus
46	chr14:64527800-64540800	Weak transcription	Gastric	stomach
47	chr14:64527800-64549000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:64527800-64552000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:64527800-64556600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:64528000-64536000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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