Variant report

Variant	rs4905553
Chromosome Location	chr14:97316102-97316103
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10131201	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10131630	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10145383	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10146571	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10149107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873476	0.82[ASN][1000 genomes]
rs11160369	0.86[ASN][1000 genomes]
rs11160371	0.91[ASN][1000 genomes]
rs11160375	0.82[ASN][1000 genomes]
rs11628733	0.86[ASN][1000 genomes]
rs12433112	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434466	0.91[ASN][1000 genomes]
rs12435963	0.90[ASN][1000 genomes]
rs12590723	0.90[ASN][1000 genomes]
rs12878184	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12882853	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12894621	0.88[ASN][1000 genomes]
rs12897731	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1951311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951312	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1957137	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2145636	0.91[ASN][1000 genomes]
rs2180896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224442	0.86[ASN][1000 genomes]
rs2230532	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825576	0.91[ASN][1000 genomes]
rs4270096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900347	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4900349	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4900350	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4900351	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4905546	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4905547	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4905552	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4905555	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4905557	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4905558	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4905560	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4905564	0.82[ASN][1000 genomes]
rs4905568	0.84[ASN][1000 genomes]
rs58514314	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61981027	1.00[ASN][1000 genomes]
rs67804110	0.87[ASN][1000 genomes]
rs67957817	0.86[ASN][1000 genomes]
rs7141028	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71419296	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7156355	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs722869	0.86[ASN][1000 genomes]
rs723810	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736929	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8013081	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8016614	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9285600	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9323951	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9323954	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323955	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv510650	chr14:97238489-97325221	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1052138	chr14:97271794-97322583	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv542180	chr14:97271794-97322583	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1043916	chr14:97275088-97320354	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1051182	chr14:97275088-97337039	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97264800-97321600	Weak transcription	Psoas Muscle	Psoas
2	chr14:97291000-97326000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:97291200-97326200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:97293400-97326400	Weak transcription	Fetal Stomach	stomach
5	chr14:97293600-97323400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr14:97294000-97323000	Weak transcription	Gastric	stomach
7	chr14:97294000-97362600	Weak transcription	Spleen	Spleen
8	chr14:97296200-97318400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:97297400-97323000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:97297400-97328000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:97297600-97353400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:97298800-97348800	Strong transcription	Dnd41	blood
13	chr14:97298800-97350600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:97299000-97328200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:97299200-97316200	Weak transcription	Pancreas	Pancrea
16	chr14:97299200-97318400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:97299200-97329600	Weak transcription	Osteobl	bone
18	chr14:97299400-97329600	Weak transcription	NHEK	skin
19	chr14:97299400-97353600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:97300200-97319000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr14:97300200-97323200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:97300400-97321400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:97300600-97322600	Weak transcription	Fetal Kidney	kidney
24	chr14:97300600-97329800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:97300600-97332000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr14:97303400-97326600	Weak transcription	NHLF	lung
27	chr14:97303400-97371600	Weak transcription	Ovary	ovary
28	chr14:97303600-97337400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr14:97305400-97321400	Weak transcription	HSMM	muscle
30	chr14:97305800-97321600	Weak transcription	Hela-S3	cervix
31	chr14:97306000-97330200	Weak transcription	Fetal Brain Female	brain
32	chr14:97308200-97348800	Weak transcription	Fetal Intestine Small	intestine
33	chr14:97309600-97344400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:97309800-97326600	Weak transcription	Placenta	Placenta
35	chr14:97310800-97325600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr14:97311600-97325800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:97311800-97316400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:97311800-97319000	Strong transcription	Primary B cells from cord blood	blood
39	chr14:97312200-97316200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr14:97312400-97316200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:97312400-97316400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr14:97312400-97316400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:97312400-97316600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:97312600-97316200	Strong transcription	Primary hematopoietic stem cells	blood
45	chr14:97312600-97316400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr14:97312600-97317400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:97312800-97333200	Weak transcription	HSMMtube	muscle
48	chr14:97313000-97323600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:97313200-97317600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr14:97313400-97316200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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