Variant report

Variant	rs74017950
Chromosome Location	chr16:48421076-48421077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr16:48420919-48421365	HL-60	blood:	n/a	chr16:48421172-48421185

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:48416330..48420180-chr16:48420798..48424375,5	K562	blood:
2	chr16:48397931..48401931-chr16:48416758..48423536,12	MCF-7	breast:
3	chr16:48417608..48421302-chr16:48425063..48429266,6	K562	blood:
4	chr16:48419410..48421944-chr16:48545496..48547470,2	MCF-7	breast:
5	chr16:48396253..48404408-chr16:48411826..48421166,27	K562	blood:
6	chr16:48417747..48421302-chr16:48425164..48430136,6	K562	blood:

No data

Variant related genes	Relation type
SIAH1	TF binding region
ENSG00000196470	Chromatin interaction

Extended variants
information (count: 221 )
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	1.00[AMR][1000 genomes]
rs16946018	1.00[AMR][1000 genomes]
rs16946020	1.00[AMR][1000 genomes]
rs16946022	1.00[AMR][1000 genomes]
rs16946024	1.00[AMR][1000 genomes]
rs16946028	1.00[AMR][1000 genomes]
rs16946031	1.00[AMR][1000 genomes]
rs16946033	1.00[AMR][1000 genomes]
rs16946035	1.00[AMR][1000 genomes]
rs16946042	1.00[AMR][1000 genomes]
rs16946044	1.00[AMR][1000 genomes]
rs16946046	1.00[AMR][1000 genomes]
rs16946047	1.00[AMR][1000 genomes]
rs16946049	1.00[AMR][1000 genomes]
rs16946050	1.00[AMR][1000 genomes]
rs16946055	1.00[AMR][1000 genomes]
rs16946056	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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946113	1.00[AMR][1000 genomes]
rs16946115	1.00[AMR][1000 genomes]
rs16946118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946120	1.00[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	1.00[AMR][1000 genomes]
rs2046529	1.00[AMR][1000 genomes]
rs2046530	1.00[AMR][1000 genomes]
rs2160564	1.00[AMR][1000 genomes]
rs2353650	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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35730749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4583238	1.00[AMR][1000 genomes]
rs4619404	1.00[AMR][1000 genomes]
rs55650659	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55650780	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55727534	1.00[AMR][1000 genomes]
rs55759468	1.00[AMR][1000 genomes]
rs55767683	1.00[AMR][1000 genomes]
rs55791428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55894153	1.00[AMR][1000 genomes]
rs55939380	1.00[AMR][1000 genomes]
rs55945004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56006148	1.00[AMR][1000 genomes]
rs56039807	1.00[AMR][1000 genomes]
rs56056936	1.00[AMR][1000 genomes]
rs56068904	1.00[AMR][1000 genomes]
rs56153325	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56183549	1.00[AMR][1000 genomes]
rs56210528	1.00[AMR][1000 genomes]
rs56252717	1.00[AMR][1000 genomes]
rs56270052	1.00[AMR][1000 genomes]
rs56379814	1.00[AMR][1000 genomes]
rs56403551	1.00[AMR][1000 genomes]
rs56739366	1.00[AMR][1000 genomes]
rs57031394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57045758	1.00[AMR][1000 genomes]
rs57276104	1.00[AMR][1000 genomes]
rs57435271	1.00[AMR][1000 genomes]
rs57646139	1.00[AMR][1000 genomes]
rs57760532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57815195	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57850865	1.00[AMR][1000 genomes]
rs57858756	1.00[AMR][1000 genomes]
rs58068024	1.00[AMR][1000 genomes]
rs58095119	1.00[AMR][1000 genomes]
rs58315149	1.00[AMR][1000 genomes]
rs58405777	1.00[AMR][1000 genomes]
rs58531648	1.00[AMR][1000 genomes]
rs58909828	1.00[AMR][1000 genomes]
rs58952249	1.00[AMR][1000 genomes]
rs59077393	1.00[AMR][1000 genomes]
rs59103644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59174783	1.00[AMR][1000 genomes]
rs59247940	1.00[AMR][1000 genomes]
rs59295735	1.00[AMR][1000 genomes]
rs59382226	1.00[AMR][1000 genomes]
rs59893238	1.00[AMR][1000 genomes]
rs59966044	1.00[AMR][1000 genomes]
rs60162759	1.00[AMR][1000 genomes]
rs60230358	1.00[AMR][1000 genomes]
rs60256696	0.97[AFR][1000 genomes]
rs60461572	1.00[AMR][1000 genomes]
rs60494112	1.00[AMR][1000 genomes]
rs60659794	1.00[AMR][1000 genomes]
rs60731420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60791230	1.00[AMR][1000 genomes]
rs60944057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60962209	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60983423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61055548	1.00[AMR][1000 genomes]
rs61173366	1.00[AMR][1000 genomes]
rs61238817	1.00[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	1.00[AMR][1000 genomes]
rs74016324	1.00[AMR][1000 genomes]
rs74016326	1.00[AMR][1000 genomes]
rs74016331	1.00[AMR][1000 genomes]
rs74016333	1.00[AMR][1000 genomes]
rs74016334	1.00[AMR][1000 genomes]
rs74016335	1.00[AMR][1000 genomes]
rs74016337	1.00[AMR][1000 genomes]
rs74016338	1.00[AMR][1000 genomes]
rs74016339	1.00[AMR][1000 genomes]
rs74016340	1.00[AMR][1000 genomes]
rs74016341	1.00[AMR][1000 genomes]
rs74016342	1.00[AMR][1000 genomes]
rs74016343	1.00[AMR][1000 genomes]
rs74016344	1.00[AMR][1000 genomes]
rs74016345	1.00[AMR][1000 genomes]
rs74016346	1.00[AMR][1000 genomes]
rs74016347	1.00[AMR][1000 genomes]
rs74016348	1.00[AMR][1000 genomes]
rs74016349	1.00[AMR][1000 genomes]
rs74016350	1.00[AMR][1000 genomes]
rs74016351	1.00[AMR][1000 genomes]
rs74016352	1.00[AMR][1000 genomes]
rs74016353	1.00[AMR][1000 genomes]
rs74016355	1.00[AMR][1000 genomes]
rs74016357	1.00[AMR][1000 genomes]
rs74016358	1.00[AMR][1000 genomes]
rs74016362	1.00[AMR][1000 genomes]
rs74016363	1.00[AMR][1000 genomes]
rs74016367	1.00[AMR][1000 genomes]
rs74016372	1.00[AMR][1000 genomes]
rs74016375	1.00[AMR][1000 genomes]
rs74016376	1.00[AMR][1000 genomes]
rs74016377	1.00[AMR][1000 genomes]
rs74016378	1.00[AMR][1000 genomes]
rs74016379	1.00[AMR][1000 genomes]
rs74016381	1.00[AMR][1000 genomes]
rs74016382	1.00[AMR][1000 genomes]
rs74016383	1.00[AMR][1000 genomes]
rs74016384	1.00[AMR][1000 genomes]
rs74016385	1.00[AMR][1000 genomes]
rs74016386	1.00[AMR][1000 genomes]
rs74016387	1.00[AMR][1000 genomes]
rs74016388	1.00[AMR][1000 genomes]
rs74016389	1.00[AMR][1000 genomes]
rs74016390	1.00[AMR][1000 genomes]
rs74016391	1.00[AMR][1000 genomes]
rs74016392	1.00[AMR][1000 genomes]
rs74016393	1.00[AMR][1000 genomes]
rs74016394	1.00[AMR][1000 genomes]
rs74016396	1.00[AMR][1000 genomes]
rs74016397	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016398	1.00[AMR][1000 genomes]
rs74016399	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016400	0.88[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017909	1.00[AMR][1000 genomes]
rs74017910	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017913	1.00[AMR][1000 genomes]
rs74017914	1.00[AMR][1000 genomes]
rs74017917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017927	1.00[AMR][1000 genomes]
rs74017928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017934	1.00[AMR][1000 genomes]
rs74017935	1.00[AMR][1000 genomes]
rs74017937	1.00[AFR][1000 genomes]
rs74017938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017945	1.00[AMR][1000 genomes]
rs74017946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017948	1.00[AMR][1000 genomes]
rs74017951	1.00[AMR][1000 genomes]
rs74017952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017955	0.94[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:19 , 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
6	esv2758424	chr16:48329437-48479754	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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
7	esv2758645	chr16:48329437-48479754	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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	32 gene(s)	inside rSNPs	diseases
8	esv1837150	chr16:48375777-48470715	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	esv1836876	chr16:48395527-48459558	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	esv1842331	chr16:48395527-48459558	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv960007	chr16:48413351-48426696	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
12	nsv572540	chr16:48415611-48423780	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
13	nsv1056931	chr16:48417388-48482594	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
14	nsv542918	chr16:48417388-48482594	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
15	esv1836854	chr16:48418505-48440630	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
16	esv1840262	chr16:48418505-48440630	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
17	esv1795074	chr16:48418505-48459558	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	esv1800739	chr16:48418505-48560315	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
19	esv1798711	chr16:48418681-48440630	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48419600-48421200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr16:48419800-48421200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr16:48420000-48422400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:48420000-48424400	Weak transcription	Right Atrium	heart
5	chr16:48420000-48429200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:48420200-48421200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr16:48420200-48421200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr16:48420200-48421200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr16:48420200-48421200	Enhancers	Placenta	Placenta
10	chr16:48420200-48421200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr16:48420200-48421200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr16:48420200-48422400	Weak transcription	NHEK	skin
13	chr16:48420200-48422600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr16:48420200-48425000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr16:48420200-48427200	Weak transcription	Psoas Muscle	Psoas
16	chr16:48420400-48421200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr16:48420400-48421200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:48420400-48427200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr16:48420600-48421200	Enhancers	Ovary	ovary
20	chr16:48420600-48421200	Flanking Active TSS	Osteobl	bone
21	chr16:48420800-48421200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr16:48420800-48426200	Weak transcription	Lung	lung
23	chr16:48420800-48431000	Weak transcription	A549	lung
24	chr16:48421000-48421200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr16:48421000-48421200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr16:48421000-48422200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr16:48421000-48426000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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