Variant report

Variant	rs74016397
Chromosome Location	chr16:48318393-48318394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 207 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:202)

rs_ID	r²[population]
rs13330237	1.00[AMR][1000 genomes]
rs13339188	1.00[AMR][1000 genomes]
rs16946016	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946018	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946020	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946022	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946024	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946028	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946031	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946033	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946035	1.00[AMR][1000 genomes]
rs16946042	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946044	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946046	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946047	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946049	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946050	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946055	1.00[AMR][1000 genomes]
rs16946056	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946077	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946084	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946088	1.00[AMR][1000 genomes]
rs16946097	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946106	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946113	1.00[AMR][1000 genomes]
rs16946115	1.00[AMR][1000 genomes]
rs16946118	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946120	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946145	1.00[AMR][1000 genomes]
rs16946162	1.00[AMR][1000 genomes]
rs16946199	1.00[AMR][1000 genomes]
rs2046528	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2046529	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2046530	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2160564	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2353650	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28387003	1.00[AMR][1000 genomes]
rs28407298	1.00[AMR][1000 genomes]
rs28699264	1.00[AMR][1000 genomes]
rs28722105	1.00[AMR][1000 genomes]
rs34437640	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35730749	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4583238	1.00[AMR][1000 genomes]
rs4619404	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55650659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55650780	1.00[AMR][1000 genomes]
rs55727534	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55759468	1.00[AMR][1000 genomes]
rs55767683	1.00[AMR][1000 genomes]
rs55791428	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55894153	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55939380	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55945004	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56006148	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56039807	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56056936	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56068904	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56153325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56183549	1.00[AMR][1000 genomes]
rs56210528	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56252717	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56270052	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56379814	1.00[AMR][1000 genomes]
rs56403551	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56739366	1.00[AMR][1000 genomes]
rs57031394	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57045758	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57276104	1.00[AMR][1000 genomes]
rs57435271	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57646139	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57760532	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57815195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57850865	1.00[AMR][1000 genomes]
rs57858756	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58068024	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58095119	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58315149	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58405777	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58531648	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58909828	1.00[AMR][1000 genomes]
rs58952249	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59077393	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59103644	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59174783	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59247940	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59295735	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59382226	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59893238	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59966044	1.00[AMR][1000 genomes]
rs60162759	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60230358	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60256696	0.85[AFR][1000 genomes]
rs60461572	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60494112	1.00[AMR][1000 genomes]
rs60659794	1.00[AMR][1000 genomes]
rs60731420	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60791230	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60944057	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60962209	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60983423	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61055548	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61173366	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61238817	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61528456	1.00[AMR][1000 genomes]
rs74016321	1.00[AMR][1000 genomes]
rs74016322	1.00[AMR][1000 genomes]
rs74016323	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016324	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016326	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016331	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016333	1.00[AMR][1000 genomes]
rs74016334	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016335	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016337	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016338	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016339	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016340	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016341	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016342	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016343	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016344	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016345	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016346	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016347	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016348	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016349	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016350	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016351	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016352	1.00[AMR][1000 genomes]
rs74016353	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016355	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016357	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016358	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016362	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016363	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016367	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016372	1.00[AMR][1000 genomes]
rs74016375	1.00[AMR][1000 genomes]
rs74016376	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016377	1.00[AMR][1000 genomes]
rs74016378	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016379	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016381	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016382	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016383	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016384	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016385	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016386	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016387	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016388	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016389	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016390	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016391	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016393	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016394	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016396	1.00[AMR][1000 genomes]
rs74016398	1.00[AMR][1000 genomes]
rs74016399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016401	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016402	1.00[AMR][1000 genomes]
rs74017903	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017904	1.00[AMR][1000 genomes]
rs74017905	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017907	1.00[AMR][1000 genomes]
rs74017908	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017909	1.00[AMR][1000 genomes]
rs74017910	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017913	1.00[AMR][1000 genomes]
rs74017914	1.00[AMR][1000 genomes]
rs74017917	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017920	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017922	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017923	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017924	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017927	1.00[AMR][1000 genomes]
rs74017928	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017929	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017930	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017931	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017932	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017933	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017934	1.00[AMR][1000 genomes]
rs74017935	1.00[AMR][1000 genomes]
rs74017937	0.88[AFR][1000 genomes]
rs74017938	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017943	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017945	1.00[AMR][1000 genomes]
rs74017946	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017947	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017948	1.00[AMR][1000 genomes]
rs74017950	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017951	1.00[AMR][1000 genomes]
rs74017952	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017955	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017956	1.00[AMR][1000 genomes]
rs9925219	1.00[AMR][1000 genomes]
rs9926097	1.00[AMR][1000 genomes]
rs9928523	1.00[AMR][1000 genomes]
rs9937947	1.00[AMR][1000 genomes]
rs9940809	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833219	chr16:48290595-48459301	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	29 gene(s)	inside rSNPs	diseases
4	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48279600-48320200	Weak transcription	Spleen	Spleen
2	chr16:48287400-48320200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:48289400-48320400	Weak transcription	Esophagus	oesophagus
4	chr16:48293800-48320400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:48294800-48320400	Weak transcription	Lung	lung
6	chr16:48297200-48323200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr16:48297600-48318600	Strong transcription	Primary B cells from peripheral blood	blood
8	chr16:48297600-48319800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr16:48297600-48321000	Weak transcription	Fetal Brain Male	brain
10	chr16:48297800-48319800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:48297800-48320800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr16:48297800-48320800	Weak transcription	Brain Germinal Matrix	brain
13	chr16:48297800-48320800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr16:48297800-48320800	Weak transcription	Small Intestine	intestine
15	chr16:48299000-48320400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr16:48300200-48320200	Weak transcription	Fetal Stomach	stomach
17	chr16:48302800-48321000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr16:48304800-48318400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr16:48304800-48319200	Weak transcription	Hela-S3	cervix
20	chr16:48305200-48328600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr16:48305400-48320400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr16:48307200-48319000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr16:48307200-48320400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr16:48307200-48321000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr16:48310400-48320200	Weak transcription	Aorta	Aorta
26	chr16:48310600-48319000	Weak transcription	Fetal Brain Female	brain
27	chr16:48311400-48319800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr16:48311400-48320200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:48311800-48320200	Weak transcription	Colonic Mucosa	Colon
30	chr16:48311800-48320200	Weak transcription	NHLF	lung
31	chr16:48311800-48320400	Weak transcription	NHDF-Ad	bronchial
32	chr16:48311800-48320800	Weak transcription	HSMMtube	muscle
33	chr16:48312000-48318600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr16:48312400-48318400	Weak transcription	Placenta	Placenta
35	chr16:48312400-48319000	Weak transcription	Fetal Intestine Small	intestine
36	chr16:48312400-48319400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr16:48312800-48319000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr16:48312800-48320200	Weak transcription	Fetal Thymus	thymus
39	chr16:48313600-48318400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr16:48313600-48319800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr16:48313600-48320400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr16:48313600-48320400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr16:48313600-48320400	Weak transcription	Left Ventricle	heart
44	chr16:48313600-48320400	Weak transcription	Thymus	Thymus
45	chr16:48313600-48321000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr16:48313600-48321000	Weak transcription	Pancreas	Pancrea
47	chr16:48313600-48321000	Weak transcription	Psoas Muscle	Psoas
48	chr16:48313600-48331800	Strong transcription	Liver	Liver
49	chr16:48313600-48337200	Weak transcription	Gastric	stomach
50	chr16:48314000-48318400	Weak transcription	K562	blood

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