Variant report

Variant	rs2016931
Chromosome Location	chr14:55842332-55842333
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10129505	0.82[ASN][1000 genomes]
rs10131562	0.98[ASN][1000 genomes]
rs10131730	0.97[ASN][1000 genomes]
rs10131913	0.83[EUR][1000 genomes]
rs10132453	0.97[ASN][1000 genomes]
rs10134317	0.83[ASN][1000 genomes]
rs10136596	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10137307	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139000	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139083	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10140869	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10141396	0.96[ASN][1000 genomes]
rs10141483	0.83[EUR][1000 genomes]
rs10141552	0.82[EUR][1000 genomes]
rs10142448	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10142547	0.81[EUR][1000 genomes]
rs10144345	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10144418	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10145203	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10147765	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10149420	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10150760	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1045002	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1109170	0.84[EUR][1000 genomes]
rs11158034	0.81[ASN][1000 genomes]
rs11158037	0.98[ASN][1000 genomes]
rs11625001	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11625423	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11625968	0.91[EUR][1000 genomes]
rs11626751	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11628437	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11851169	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12050099	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12050123	0.96[ASN][1000 genomes]
rs1572611	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17128440	0.96[EUR][1000 genomes]
rs17674463	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17674563	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17675223	0.84[ASN][1000 genomes]
rs17740551	0.81[ASN][1000 genomes]
rs17740741	0.84[ASN][1000 genomes]
rs17741542	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17741831	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1815580	0.91[EUR][1000 genomes]
rs1815581	0.93[EUR][1000 genomes]
rs1972221	0.82[ASN][1000 genomes]
rs2009291	0.95[EUR][1000 genomes]
rs2026633	0.81[ASN][1000 genomes]
rs2182797	0.93[EUR][1000 genomes]
rs2209808	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2297816	0.98[ASN][1000 genomes]
rs28428911	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28430823	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28452705	0.98[ASN][1000 genomes]
rs28493647	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28568813	0.85[EUR][1000 genomes]
rs28612464	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28631821	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28660594	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28716725	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35112084	0.82[ASN][1000 genomes]
rs3742569	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3783648	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3783649	0.97[ASN][1000 genomes]
rs3783650	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3783651	0.98[ASN][1000 genomes]
rs3783652	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825616	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4366639	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4496026	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4580079	0.82[ASN][1000 genomes]
rs4597235	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56270323	0.93[EUR][1000 genomes]
rs56949365	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58260073	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58296156	0.97[ASN][1000 genomes]
rs59629906	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59871474	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60248556	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61210954	0.81[EUR][1000 genomes]
rs6573017	0.95[EUR][1000 genomes]
rs6573020	0.97[EUR][1000 genomes]
rs66464079	0.82[ASN][1000 genomes]
rs66486619	0.95[EUR][1000 genomes]
rs66551709	0.83[ASN][1000 genomes]
rs66696758	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67386901	0.81[ASN][1000 genomes]
rs67412516	0.98[ASN][1000 genomes]
rs67514154	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67795323	0.83[ASN][1000 genomes]
rs68046603	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs68138420	0.82[ASN][1000 genomes]
rs7140628	0.82[ASN][1000 genomes]
rs7144737	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7145727	0.87[EUR][1000 genomes]
rs7147136	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7147247	0.82[ASN][1000 genomes]
rs7148171	0.81[EUR][1000 genomes]
rs7150234	0.91[ASN][1000 genomes]
rs7150763	0.98[ASN][1000 genomes]
rs7151581	0.81[ASN][1000 genomes]
rs7151754	0.81[ASN][1000 genomes]
rs7152390	0.95[ASN][1000 genomes]
rs7153110	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7153612	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7153645	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7154796	0.83[ASN][1000 genomes]
rs7154831	0.97[ASN][1000 genomes]
rs7154889	0.96[EUR][1000 genomes]
rs7155954	0.81[ASN][1000 genomes]
rs7157308	0.81[ASN][1000 genomes]
rs7158768	0.81[EUR][1000 genomes]
rs7158791	0.97[ASN][1000 genomes]
rs7158861	0.81[ASN][1000 genomes]
rs7159144	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7159824	0.82[ASN][1000 genomes]
rs7161439	0.98[ASN][1000 genomes]
rs72715769	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72717738	0.98[ASN][1000 genomes]
rs73263927	0.81[ASN][1000 genomes]
rs8005450	0.91[ASN][1000 genomes]
rs8006525	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8008119	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8013713	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8014477	0.98[ASN][1000 genomes]
rs8014540	0.98[ASN][1000 genomes]
rs8015211	0.98[ASN][1000 genomes]
rs8021583	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8022041	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9323284	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9323285	0.84[ASN][1000 genomes]
rs946059	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9919923	0.96[ASN][1000 genomes]
rs9919926	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9919932	0.96[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	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	nsv901957	chr14:55819219-55853724	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	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
4	nsv983957	chr14:55836658-55843320	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55801200-55842800	Weak transcription	Fetal Brain Male	brain
2	chr14:55808800-55865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:55814400-55853200	Weak transcription	Right Atrium	heart
4	chr14:55818200-55842800	Weak transcription	Brain Angular Gyrus	brain
5	chr14:55818200-55877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:55818400-55858800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:55818800-55842600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:55819200-55842800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:55819400-55847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:55819400-55850600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:55819400-55855200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr14:55821200-55842800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:55821400-55848800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr14:55821400-55849200	Weak transcription	Fetal Heart	heart
15	chr14:55821400-55865200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:55822200-55842800	Weak transcription	Brain Substantia Nigra	brain
17	chr14:55823200-55848400	Weak transcription	HMEC	breast
18	chr14:55824000-55848400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:55831000-55859400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:55831800-55858000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr14:55832000-55849600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr14:55832000-55850800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:55832400-55857800	Strong transcription	Liver	Liver
24	chr14:55832800-55842400	Weak transcription	Fetal Kidney	kidney
25	chr14:55832800-55842800	Weak transcription	Pancreas	Pancrea
26	chr14:55832800-55842800	Weak transcription	Psoas Muscle	Psoas
27	chr14:55832800-55842800	Weak transcription	HUVEC	blood vessel
28	chr14:55833000-55845600	Weak transcription	Colonic Mucosa	Colon
29	chr14:55834200-55842400	Weak transcription	NHDF-Ad	bronchial
30	chr14:55836400-55842600	Weak transcription	A549	lung
31	chr14:55836600-55842600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr14:55836600-55842600	Weak transcription	Osteobl	bone
33	chr14:55836600-55842800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:55836600-55842800	Weak transcription	Dnd41	blood
35	chr14:55836600-55843000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr14:55836600-55843000	Weak transcription	Aorta	Aorta
37	chr14:55836800-55842400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr14:55836800-55842600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr14:55836800-55842800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:55836800-55842800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:55836800-55842800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:55836800-55842800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:55836800-55843200	Weak transcription	Gastric	stomach
44	chr14:55836800-55845400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:55836800-55877800	Weak transcription	Esophagus	oesophagus
46	chr14:55837000-55842400	Weak transcription	Brain Hippocampus Middle	brain
47	chr14:55837000-55842600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:55837000-55842600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr14:55837000-55842800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr14:55837000-55842800	Weak transcription	Rectal Mucosa Donor 29	rectum

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