Variant report

Variant	rs74016399
Chromosome Location	chr16:48321465-48321466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48313308..48314939-chr16:48319940..48322904,2	K562	blood:
2	chr16:48319533..48322012-chr16:48323897..48325836,2	K562	blood:

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]
rs74016397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016398	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48297200-48323200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:48305200-48328600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr16:48313600-48331800	Strong transcription	Liver	Liver
4	chr16:48313600-48337200	Weak transcription	Gastric	stomach
5	chr16:48316600-48325400	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr16:48317200-48324800	Weak transcription	Brain Anterior Caudate	brain
7	chr16:48317400-48336400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:48317600-48325400	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr16:48317800-48322000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:48318200-48325000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr16:48318400-48321600	Strong transcription	Rectal Smooth Muscle	rectum
12	chr16:48318600-48322200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:48318600-48322600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:48318800-48321800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr16:48319000-48321600	ZNF genes & repeats	Primary T cells from cord blood	blood
16	chr16:48319200-48321800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:48319200-48321800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr16:48319200-48321800	Strong transcription	Hela-S3	cervix
19	chr16:48319600-48322200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:48319800-48321600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:48319800-48321600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
22	chr16:48319800-48321600	ZNF genes & repeats	Fetal Heart	heart
23	chr16:48319800-48321600	ZNF genes & repeats	NHEK	skin
24	chr16:48319800-48321800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr16:48319800-48321800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr16:48319800-48321800	ZNF genes & repeats	Fetal Lung	lung
27	chr16:48319800-48321800	ZNF genes & repeats	GM12878-XiMat	blood
28	chr16:48319800-48329000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr16:48320000-48321600	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr16:48320200-48321600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr16:48320200-48321600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:48320200-48321600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
33	chr16:48320200-48321600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr16:48320200-48321600	ZNF genes & repeats	Fetal Stomach	stomach
35	chr16:48320200-48321600	ZNF genes & repeats	NHLF	lung
36	chr16:48320400-48321600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr16:48320400-48321600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
38	chr16:48320400-48321600	ZNF genes & repeats	Primary B cells from cord blood	blood
39	chr16:48320400-48321600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
40	chr16:48320400-48321600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
41	chr16:48320400-48321600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
42	chr16:48320400-48321600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr16:48320400-48321600	Strong transcription	Fetal Kidney	kidney
44	chr16:48320400-48321600	ZNF genes & repeats	Placenta	Placenta
45	chr16:48320400-48321600	ZNF genes & repeats	Ovary	ovary
46	chr16:48320400-48321600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
47	chr16:48320400-48321600	ZNF genes & repeats	Thymus	Thymus
48	chr16:48320400-48321600	ZNF genes & repeats	Dnd41	blood
49	chr16:48320400-48321600	ZNF genes & repeats	HepG2	liver
50	chr16:48320400-48321800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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