Variant report

Variant	rs181562
Chromosome Location	chr14:68281302-68281303
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68268943..68273622-chr14:68274476..68281746,8	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10130919	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10131048	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10132318	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10133239	0.90[AMR][1000 genomes]
rs10135927	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10137614	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10137930	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10141638	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10146380	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10150007	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1040598	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483805	0.82[EUR][1000 genomes]
rs10873208	0.90[AMR][1000 genomes]
rs11158693	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11158694	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158695	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11158697	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11158700	0.81[AMR][1000 genomes]
rs11158701	0.81[AMR][1000 genomes]
rs11620947	0.85[AMR][1000 genomes]
rs11621019	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622521	0.86[AMR][1000 genomes]
rs11622535	0.88[AMR][1000 genomes]
rs11623756	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11626590	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626769	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626778	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11627100	0.90[AMR][1000 genomes]
rs11627417	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11627565	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11844492	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11847628	0.83[EUR][1000 genomes]
rs12433710	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586329	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12588401	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12886915	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12891047	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12891164	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892221	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12893157	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896666	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1543391	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17783094	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17783124	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17783160	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1810523	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181563	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs181564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181565	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181566	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs181567	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181570	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181572	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs181574	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181575	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs181576	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955470	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1956345	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1956346	0.85[AMR][1000 genomes]
rs1956347	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1956348	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1964828	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235962	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2235963	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2235965	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2235966	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2235967	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295105	0.80[ASN][1000 genomes]
rs2295106	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2295107	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295108	0.82[EUR][1000 genomes]
rs28373844	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28604984	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28623567	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2874131	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2874132	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34759521	0.80[ASN][1000 genomes]
rs35272075	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4143685	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4284565	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4402486	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4569184	0.82[EUR][1000 genomes]
rs4902517	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4902518	0.82[EUR][1000 genomes]
rs4902519	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55854324	1.00[ASN][1000 genomes]
rs55867043	0.87[ASN][1000 genomes]
rs55999745	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7142433	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143196	1.00[ASN][1000 genomes]
rs7143496	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149482	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151495	0.83[AMR][1000 genomes]
rs7154635	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7159109	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7159622	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159982	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160196	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72723196	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723202	1.00[ASN][1000 genomes]
rs72725103	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725114	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs764088	0.82[AMR][1000 genomes]
rs767972	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8003431	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8004611	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006089	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8010086	0.82[AMR][1000 genomes]
rs8011120	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011690	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8012974	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017013	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8018709	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs932555	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68265800-68282200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:68271400-68282000	Weak transcription	Stomach Mucosa	stomach
4	chr14:68271800-68281600	Weak transcription	Fetal Heart	heart
5	chr14:68271800-68282200	Weak transcription	K562	blood
6	chr14:68272400-68281600	Weak transcription	HMEC	breast
7	chr14:68272400-68282200	Weak transcription	Small Intestine	intestine
8	chr14:68273200-68281600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:68274600-68281600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:68274600-68282200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:68274600-68282200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:68274600-68282400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:68275000-68281600	Weak transcription	NHLF	lung
14	chr14:68275000-68282600	Weak transcription	Aorta	Aorta
15	chr14:68275200-68281400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:68275400-68282200	Weak transcription	Thymus	Thymus
17	chr14:68275400-68282400	Weak transcription	Gastric	stomach
18	chr14:68275600-68282200	Weak transcription	Psoas Muscle	Psoas
19	chr14:68275600-68282400	Weak transcription	Esophagus	oesophagus
20	chr14:68276000-68281600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:68276000-68281600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:68276000-68281600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:68276000-68281600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:68276000-68281600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr14:68276000-68281600	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:68276000-68281600	Weak transcription	Pancreas	Pancrea
27	chr14:68276000-68281600	Weak transcription	A549	lung
28	chr14:68276000-68281600	Weak transcription	NHEK	skin
29	chr14:68276000-68281800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:68276000-68282000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:68276000-68282000	Weak transcription	Spleen	Spleen
32	chr14:68276000-68282200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:68276400-68281600	Weak transcription	Brain Germinal Matrix	brain
34	chr14:68276800-68281400	Weak transcription	Fetal Intestine Small	intestine
35	chr14:68277000-68282400	Weak transcription	Right Ventricle	heart
36	chr14:68277600-68282000	Weak transcription	Fetal Stomach	stomach
37	chr14:68277600-68282000	Weak transcription	HSMMtube	muscle
38	chr14:68277800-68281400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:68277800-68282200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:68277800-68282200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:68277800-68282200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:68277800-68282400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:68277800-68282400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:68277800-68282400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr14:68277800-68282400	Weak transcription	Left Ventricle	heart
46	chr14:68277800-68282400	Weak transcription	Lung	lung
47	chr14:68277800-68282400	Weak transcription	Ovary	ovary
48	chr14:68278000-68281400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr14:68278000-68281400	Weak transcription	Fetal Kidney	kidney
50	chr14:68278000-68281600	Weak transcription	Primary T cells from cord blood	blood

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