Variant report

Variant	rs8012974
Chromosome Location	chr14:68295100-68295101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10130919	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10131048	0.81[AMR][1000 genomes]
rs10133239	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10135927	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10137614	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10137930	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10141638	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10146380	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10150007	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1040598	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10873208	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11158694	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11158697	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11158700	0.85[AMR][1000 genomes]
rs11158701	0.85[AMR][1000 genomes]
rs11620947	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11621019	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622521	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11622535	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11623756	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11626332	0.82[AMR][1000 genomes]
rs11626590	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626778	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11627100	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11627417	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11627565	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11844492	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11847628	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12431490	0.84[AMR][1000 genomes]
rs12432558	0.81[AMR][1000 genomes]
rs12433710	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434751	0.84[AMR][1000 genomes]
rs12891164	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893157	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1543391	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17783094	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17783124	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17783160	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1810523	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181561	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181562	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181563	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs181564	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181565	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181566	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs181567	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181570	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181572	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs181574	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181575	0.81[EUR][1000 genomes]
rs181576	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1956345	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1956346	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1956347	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1956348	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1964828	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2235963	0.81[AMR][1000 genomes]
rs2235967	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2295105	0.80[ASN][1000 genomes]
rs2295106	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2295107	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2331403	0.85[EUR][1000 genomes]
rs28373844	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28604984	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28623567	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28713367	0.84[AMR][1000 genomes]
rs2874132	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34759521	0.80[ASN][1000 genomes]
rs35272075	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4143685	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4284565	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4402486	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4902519	0.81[AMR][1000 genomes]
rs55854324	1.00[ASN][1000 genomes]
rs55867043	0.87[ASN][1000 genomes]
rs55999745	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7142433	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143196	1.00[ASN][1000 genomes]
rs7143496	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7149482	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150705	0.81[AMR][1000 genomes]
rs7150903	0.81[AMR][1000 genomes]
rs7151495	0.88[AMR][1000 genomes]
rs7154635	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7159109	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7159489	0.82[AMR][1000 genomes]
rs7159622	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159982	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160196	0.82[AMR][1000 genomes]
rs72723196	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723202	1.00[ASN][1000 genomes]
rs72725103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725114	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72725127	0.84[AMR][1000 genomes]
rs764088	0.86[AMR][1000 genomes]
rs8003431	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8004611	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006089	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8010086	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8011120	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8011690	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8017013	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8018709	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs932555	0.96[AMR][1000 genomes];0.94[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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68287200-68303600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:68287400-68296400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:68287400-68297200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr14:68287400-68304800	Weak transcription	Lung	lung
5	chr14:68287400-68312800	Weak transcription	Aorta	Aorta
6	chr14:68287400-68312800	Weak transcription	Esophagus	oesophagus
7	chr14:68287400-68315200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:68287600-68295400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:68287600-68296000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:68287600-68298000	Weak transcription	Brain Anterior Caudate	brain
11	chr14:68287600-68301400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:68287600-68302800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:68287600-68303600	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:68287600-68303800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:68287600-68304800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:68287600-68306000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:68287600-68317800	Weak transcription	Spleen	Spleen
18	chr14:68287800-68295200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:68287800-68295400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:68287800-68296200	Weak transcription	Brain Substantia Nigra	brain
21	chr14:68287800-68300600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:68287800-68304800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr14:68287800-68305000	Weak transcription	Fetal Kidney	kidney
24	chr14:68287800-68306400	Weak transcription	Fetal Lung	lung
25	chr14:68287800-68310600	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:68287800-68318200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr14:68288000-68295400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:68288000-68296000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:68288000-68297200	Weak transcription	Primary T cells from cord blood	blood
30	chr14:68288000-68298800	Weak transcription	Adipose Nuclei	Adipose
31	chr14:68288000-68300200	Weak transcription	NHEK	skin
32	chr14:68288000-68306400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:68288000-68306400	Weak transcription	HepG2	liver
34	chr14:68288000-68306800	Weak transcription	A549	lung
35	chr14:68288200-68295800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr14:68288200-68298200	Weak transcription	HMEC	breast
37	chr14:68288200-68302400	Weak transcription	GM12878-XiMat	blood
38	chr14:68288200-68304000	Weak transcription	K562	blood
39	chr14:68288200-68306200	Weak transcription	NHDF-Ad	bronchial
40	chr14:68288400-68298200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr14:68288400-68303800	Weak transcription	Liver	Liver
42	chr14:68289600-68304800	Weak transcription	Fetal Intestine Large	intestine
43	chr14:68291000-68295600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:68291400-68312600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:68291600-68303200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:68292000-68295800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr14:68292200-68295600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:68292200-68300400	Weak transcription	Left Ventricle	heart
49	chr14:68292400-68295600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:68293800-68295400	Strong transcription	Primary hematopoietic stem cells	blood

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