Variant report

Variant	rs8011393
Chromosome Location	chr14:68291898-68291899
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10130919	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10131048	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10132318	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10133239	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10135927	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10137614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10137930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10141638	0.89[CEU][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10146380	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10150007	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1015023	1.00[JPT][hapmap]
rs1040598	0.86[AMR][1000 genomes]
rs10483805	0.88[CEU][hapmap]
rs10873208	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11158693	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11158694	0.86[AMR][1000 genomes]
rs11158695	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11158697	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11158700	0.81[AMR][1000 genomes]
rs11158701	0.81[AMR][1000 genomes]
rs11620947	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11622521	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11622535	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11623756	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11624166	1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs11626332	0.84[AMR][1000 genomes]
rs11626590	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11626594	1.00[JPT][hapmap]
rs11626769	0.89[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11626778	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11627100	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11627417	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11627565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11844492	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11847628	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12433710	0.81[AMR][1000 genomes]
rs12586329	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12588401	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12886915	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12891047	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12891164	0.90[AMR][1000 genomes]
rs12892221	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12893157	0.86[AMR][1000 genomes]
rs12896666	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1543391	0.90[AMR][1000 genomes]
rs17783094	0.89[CEU][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17783124	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17783160	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1810523	0.87[AMR][1000 genomes]
rs181561	0.81[CEU][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs181562	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs181563	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs181564	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs181565	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs181566	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs181567	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs181570	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs181572	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs181574	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs181575	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs181576	0.81[CEU][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1950769	1.00[JPT][hapmap]
rs1955470	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1956345	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1956346	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1956347	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1956348	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1964828	0.85[AMR][1000 genomes]
rs2235962	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs2235963	0.88[CEU][hapmap];0.85[AMR][1000 genomes]
rs2235965	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs2235966	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs2295106	0.85[AMR][1000 genomes]
rs2295107	0.85[AMR][1000 genomes]
rs2295108	0.88[CEU][hapmap]
rs2331403	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28373844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28604984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28623567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2874131	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2874132	0.82[AMR][1000 genomes]
rs35272075	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4143685	0.86[AMR][1000 genomes]
rs4284565	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4402486	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4569184	0.88[CEU][hapmap]
rs4902517	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4902518	0.80[ASN][1000 genomes]
rs4902519	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs55999745	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7142433	0.89[AMR][1000 genomes]
rs7143496	0.87[AMR][1000 genomes]
rs7149482	0.88[CEU][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7151091	1.00[JPT][hapmap]
rs7151495	0.86[AMR][1000 genomes]
rs7154635	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7157288	0.81[AMR][1000 genomes]
rs7159109	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7159489	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7159622	0.90[AMR][1000 genomes]
rs7160196	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72723196	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72725103	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72725114	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs764088	0.82[AMR][1000 genomes]
rs767972	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8003431	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8004611	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8006089	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8009358	1.00[JPT][hapmap]
rs8010086	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8011120	0.84[CEU][hapmap];0.87[AMR][1000 genomes]
rs8011690	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8012974	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8017013	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8018709	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs932554	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs932555	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs961700	1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs986382	0.86[CHB][hapmap];1.00[JPT][hapmap]

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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68287200-68292000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:68287200-68303600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:68287400-68292000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr14:68287400-68292400	Weak transcription	Fetal Stomach	stomach
5	chr14:68287400-68292800	Weak transcription	Gastric	stomach
6	chr14:68287400-68293400	Weak transcription	Ovary	ovary
7	chr14:68287400-68296400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:68287400-68297200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:68287400-68304800	Weak transcription	Lung	lung
10	chr14:68287400-68312800	Weak transcription	Aorta	Aorta
11	chr14:68287400-68312800	Weak transcription	Esophagus	oesophagus
12	chr14:68287400-68315200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:68287600-68292200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:68287600-68292800	Weak transcription	Placenta	Placenta
15	chr14:68287600-68293400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:68287600-68293400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:68287600-68294000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:68287600-68294400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:68287600-68295000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:68287600-68295400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:68287600-68296000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:68287600-68298000	Weak transcription	Brain Anterior Caudate	brain
23	chr14:68287600-68301400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:68287600-68302800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr14:68287600-68303600	Weak transcription	Colon Smooth Muscle	Colon
26	chr14:68287600-68303800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:68287600-68304800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:68287600-68306000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:68287600-68317800	Weak transcription	Spleen	Spleen
30	chr14:68287800-68292000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:68287800-68292200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:68287800-68292400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr14:68287800-68292400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:68287800-68292600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:68287800-68293200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr14:68287800-68293400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr14:68287800-68293400	Weak transcription	Thymus	Thymus
38	chr14:68287800-68293600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:68287800-68294200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr14:68287800-68295200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:68287800-68295400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:68287800-68296200	Weak transcription	Brain Substantia Nigra	brain
43	chr14:68287800-68300600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:68287800-68304800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr14:68287800-68305000	Weak transcription	Fetal Kidney	kidney
46	chr14:68287800-68306400	Weak transcription	Fetal Lung	lung
47	chr14:68287800-68310600	Weak transcription	Brain Hippocampus Middle	brain
48	chr14:68287800-68318200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr14:68288000-68292000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:68288000-68292000	Weak transcription	Primary B cells from peripheral blood	blood

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