Variant report

Variant	rs74016372
Chromosome Location	chr16:48306230-48306231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:48303521..48306238-chr16:48306915..48309814,2	K562	blood:
2	chr16:48305138..48309259-chr16:48310005..48312409,3	K562	blood:
3	chr16:48305578..48309055-chr16:48310005..48312347,3	K562	blood:

Extended variants
information (count: 202 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:197)

rs_ID	r²[population]
rs13330237	1.00[AMR][1000 genomes]
rs13339188	1.00[AMR][1000 genomes]
rs16946016	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946018	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946020	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946022	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946024	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946028	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946031	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946033	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946035	1.00[AMR][1000 genomes]
rs16946042	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946044	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946046	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946047	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946049	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946050	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946055	1.00[AMR][1000 genomes]
rs16946056	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946077	1.00[AMR][1000 genomes]
rs16946084	1.00[AMR][1000 genomes]
rs16946088	1.00[AMR][1000 genomes]
rs16946097	1.00[AMR][1000 genomes]
rs16946106	1.00[AMR][1000 genomes]
rs16946113	1.00[AMR][1000 genomes]
rs16946115	1.00[AMR][1000 genomes]
rs16946118	1.00[AMR][1000 genomes]
rs16946120	1.00[AMR][1000 genomes]
rs16946145	1.00[AMR][1000 genomes]
rs16946162	1.00[AMR][1000 genomes]
rs16946199	1.00[AMR][1000 genomes]
rs2046528	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2046529	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2046530	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2160564	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2353650	0.83[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	1.00[AMR][1000 genomes]
rs35730749	1.00[AMR][1000 genomes]
rs4583238	1.00[AMR][1000 genomes]
rs4619404	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55650659	1.00[AMR][1000 genomes]
rs55650780	1.00[AMR][1000 genomes]
rs55727534	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55759468	1.00[AMR][1000 genomes]
rs55767683	1.00[AMR][1000 genomes]
rs55791428	1.00[AMR][1000 genomes]
rs55894153	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55939380	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55945004	1.00[AMR][1000 genomes]
rs56006148	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56039807	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56056936	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56068904	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56153325	1.00[AMR][1000 genomes]
rs56183549	1.00[AMR][1000 genomes]
rs56210528	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56252717	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56270052	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56379814	1.00[AMR][1000 genomes]
rs56403551	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56739366	1.00[AMR][1000 genomes]
rs57031394	1.00[AMR][1000 genomes]
rs57045758	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57276104	1.00[AMR][1000 genomes]
rs57435271	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57646139	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57760532	1.00[AMR][1000 genomes]
rs57815195	1.00[AMR][1000 genomes]
rs57850865	1.00[AMR][1000 genomes]
rs57858756	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58068024	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58095119	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58315149	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58405777	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58531648	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58909828	1.00[AMR][1000 genomes]
rs58952249	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59077393	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59103644	1.00[AMR][1000 genomes]
rs59174783	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59247940	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59295735	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59382226	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59893238	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59966044	1.00[AMR][1000 genomes]
rs60162759	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60230358	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60461572	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60494112	1.00[AMR][1000 genomes]
rs60659794	1.00[AMR][1000 genomes]
rs60731420	1.00[AMR][1000 genomes]
rs60791230	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60944057	1.00[AMR][1000 genomes]
rs60962209	1.00[AMR][1000 genomes]
rs60983423	1.00[AMR][1000 genomes]
rs61055548	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61173366	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61238817	1.00[AMR][1000 genomes]
rs61528456	1.00[AMR][1000 genomes]
rs74016321	1.00[AMR][1000 genomes]
rs74016322	1.00[AMR][1000 genomes]
rs74016323	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016324	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016326	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016331	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016333	1.00[AMR][1000 genomes]
rs74016334	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016335	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016337	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016338	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016339	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016340	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016341	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016342	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016343	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016344	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016345	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016346	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016347	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016348	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016349	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016350	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016351	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016352	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016353	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016355	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016357	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016358	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016362	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016363	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016367	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016375	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016376	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016377	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016378	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016379	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016381	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016382	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016383	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016384	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016385	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016386	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016387	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016388	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016389	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016390	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016391	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016392	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016393	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016394	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016396	1.00[AMR][1000 genomes]
rs74016397	1.00[AMR][1000 genomes]
rs74016398	1.00[AMR][1000 genomes]
rs74016399	1.00[AMR][1000 genomes]
rs74016400	1.00[AMR][1000 genomes]
rs74016401	1.00[AMR][1000 genomes]
rs74016402	1.00[AMR][1000 genomes]
rs74017903	1.00[AMR][1000 genomes]
rs74017904	1.00[AMR][1000 genomes]
rs74017905	1.00[AMR][1000 genomes]
rs74017907	1.00[AMR][1000 genomes]
rs74017908	1.00[AMR][1000 genomes]
rs74017909	1.00[AMR][1000 genomes]
rs74017910	1.00[AMR][1000 genomes]
rs74017913	1.00[AMR][1000 genomes]
rs74017914	1.00[AMR][1000 genomes]
rs74017917	1.00[AMR][1000 genomes]
rs74017920	1.00[AMR][1000 genomes]
rs74017922	1.00[AMR][1000 genomes]
rs74017923	1.00[AMR][1000 genomes]
rs74017924	1.00[AMR][1000 genomes]
rs74017927	1.00[AMR][1000 genomes]
rs74017928	1.00[AMR][1000 genomes]
rs74017929	1.00[AMR][1000 genomes]
rs74017930	1.00[AMR][1000 genomes]
rs74017931	1.00[AMR][1000 genomes]
rs74017932	1.00[AMR][1000 genomes]
rs74017933	1.00[AMR][1000 genomes]
rs74017934	1.00[AMR][1000 genomes]
rs74017935	1.00[AMR][1000 genomes]
rs74017938	1.00[AMR][1000 genomes]
rs74017943	1.00[AMR][1000 genomes]
rs74017945	1.00[AMR][1000 genomes]
rs74017946	1.00[AMR][1000 genomes]
rs74017947	1.00[AMR][1000 genomes]
rs74017948	1.00[AMR][1000 genomes]
rs74017950	1.00[AMR][1000 genomes]
rs74017951	1.00[AMR][1000 genomes]
rs74017952	1.00[AMR][1000 genomes]
rs74017955	1.00[AMR][1000 genomes]
rs74017956	1.00[AMR][1000 genomes]
rs9925219	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48279400-48312600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:48279600-48311200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:48279600-48320200	Weak transcription	Spleen	Spleen
4	chr16:48280400-48309400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:48281400-48313200	Weak transcription	Right Atrium	heart
6	chr16:48281800-48313200	Weak transcription	Psoas Muscle	Psoas
7	chr16:48285200-48309600	Strong transcription	HepG2	liver
8	chr16:48285800-48306800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:48285800-48309600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:48286000-48313200	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr16:48287400-48320200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr16:48289400-48309400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr16:48289400-48313200	Weak transcription	Gastric	stomach
14	chr16:48289400-48320400	Weak transcription	Esophagus	oesophagus
15	chr16:48289800-48306800	Weak transcription	Aorta	Aorta
16	chr16:48290600-48313800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr16:48291600-48309400	Strong transcription	Fetal Intestine Large	intestine
18	chr16:48292200-48306800	Weak transcription	Right Ventricle	heart
19	chr16:48292200-48313200	Weak transcription	Pancreas	Pancrea
20	chr16:48293800-48309000	Strong transcription	Liver	Liver
21	chr16:48293800-48320400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:48294800-48320400	Weak transcription	Lung	lung
23	chr16:48297200-48323200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr16:48297600-48311000	Weak transcription	Colonic Mucosa	Colon
25	chr16:48297600-48313200	Weak transcription	K562	blood
26	chr16:48297600-48318600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr16:48297600-48319800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr16:48297600-48321000	Weak transcription	Fetal Brain Male	brain
29	chr16:48297800-48311400	Weak transcription	HSMMtube	muscle
30	chr16:48297800-48312200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr16:48297800-48313200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr16:48297800-48313200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr16:48297800-48313200	Weak transcription	NHEK	skin
34	chr16:48297800-48319800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr16:48297800-48320800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr16:48297800-48320800	Weak transcription	Brain Germinal Matrix	brain
37	chr16:48297800-48320800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr16:48297800-48320800	Weak transcription	Small Intestine	intestine
39	chr16:48298000-48309600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr16:48299000-48320400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr16:48299400-48306600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr16:48300200-48320200	Weak transcription	Fetal Stomach	stomach
43	chr16:48300600-48306600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr16:48301200-48310200	Weak transcription	NHDF-Ad	bronchial
45	chr16:48302200-48313400	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr16:48302800-48307400	Strong transcription	Osteobl	bone
47	chr16:48302800-48321000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr16:48303000-48313400	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr16:48303000-48314800	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr16:48303000-48315200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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