Variant report

Variant	rs8062946
Chromosome Location	chr16:71930807-71930808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr16:71930478-71931110	GM12878	blood:	n/a	n/a
2	SPI1	chr16:71930632-71931115	HL-60	blood:	n/a	n/a
3	ZBTB7A	chr16:71930752-71931176	K562	blood:	n/a	n/a
4	SPI1	chr16:71930776-71931065	HL-60	blood:	n/a	n/a
5	SPI1	chr16:71930734-71931114	GM12891	blood:	n/a	n/a
6	MAZ	chr16:71928077-71930874	IMR90	lung:	n/a	n/a
7	POLR2A	chr16:71930502-71930888	GM12878	blood:	n/a	n/a
8	CHD1	chr16:71927983-71931014	IMR90	lung:	n/a	chr16:71929163-71929173
9	SPI1	chr16:71930690-71931051	GM12878	blood:	n/a	n/a
10	ZNF384	chr16:71930742-71931204	K562	blood:	n/a	n/a
11	SPI1	chr16:71930745-71931044	K562	blood:	n/a	n/a
12	SPI1	chr16:71930690-71931077	GM12891	blood:	n/a	n/a
13	SPI1	chr16:71930738-71930995	GM12878	blood:	n/a	n/a
14	ZNF384	chr16:71930754-71931133	GM12878	blood:	n/a	n/a
15	POLR2A	chr16:71930589-71930994	HepG2	liver:	n/a	n/a
16	SPI1	chr16:71930740-71931042	K562	blood:	n/a	n/a
17	WRNIP1	chr16:71930500-71931113	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71927209..71930992-chr16:71962077..71965660,4	K562	blood:
2	chr16:71841145..71844669-chr16:71927071..71931411,13	MCF-7	breast:
3	chr16:71928455..71931068-chr16:71956099..71958859,3	MCF-7	breast:
4	chr16:71756273..71758753-chr16:71927656..71930818,3	MCF-7	breast:
5	chr16:71927209..71930992-chr16:71962077..71965220,3	K562	blood:
6	chr16:71878320..71880402-chr16:71929242..71933378,4	MCF-7	breast:
7	chr16:71927590..71930855-chr16:71952254..71956665,4	MCF-7	breast:
8	chr16:71929970..71932998-chr16:71952269..71954857,3	K562	blood:
9	chr16:71840867..71844185-chr16:71927744..71931104,8	K562	blood:
10	chr16:71916766..71921844-chr16:71926616..71932994,12	K562	blood:
11	chr16:71928144..71931559-chr16:72041567..72044276,4	MCF-7	breast:
12	chr16:71841370..71844789-chr16:71927787..71931052,12	MCF-7	breast:
13	chr16:71929035..71931345-chr16:71958752..71961424,2	K562	blood:

No data

Variant related genes	Relation type
ZNF821	TF binding region
ENSG00000224470	Chromatin interaction
ENSG00000261513	Chromatin interaction
ENSG00000102967	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000263320	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000261337	Chromatin interaction
ENSG00000102984	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs11075908	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075911	0.91[EUR][1000 genomes]
rs11648353	0.90[EUR][1000 genomes]
rs11648530	0.91[EUR][1000 genomes]
rs11649672	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12102548	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12444829	0.98[EUR][1000 genomes]
rs12447045	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12449139	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12599192	0.93[EUR][1000 genomes]
rs12921084	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12926041	0.94[EUR][1000 genomes]
rs12926300	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12930744	0.90[EUR][1000 genomes]
rs12935795	0.90[EUR][1000 genomes]
rs13329779	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1834034	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1834035	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1981874	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008675	0.88[EUR][1000 genomes]
rs2018384	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2288029	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288031	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335709	0.97[EUR][1000 genomes]
rs2335710	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335711	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335712	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2335713	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335714	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335715	0.92[EUR][1000 genomes]
rs28697038	0.96[EUR][1000 genomes]
rs2878492	0.91[EUR][1000 genomes]
rs3794692	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4788446	0.81[EUR][1000 genomes]
rs4788447	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788449	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788562	0.88[EUR][1000 genomes]
rs4788563	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4788564	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788566	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788570	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788571	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788573	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788581	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4788582	0.92[EUR][1000 genomes]
rs4788584	0.91[EUR][1000 genomes]
rs4788585	0.91[EUR][1000 genomes]
rs62053803	0.91[EUR][1000 genomes]
rs6499542	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6499545	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6499551	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6499552	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7184437	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7184486	0.90[EUR][1000 genomes]
rs7187129	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7193731	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204708	0.90[EUR][1000 genomes]
rs7205154	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8044342	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8046859	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8050488	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8050651	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8051038	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8054111	0.88[EUR][1000 genomes]
rs8054175	0.88[EUR][1000 genomes]
rs8054403	0.87[EUR][1000 genomes]
rs8057124	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8058118	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8059053	0.98[EUR][1000 genomes]
rs8063324	0.95[EUR][1000 genomes]
rs8063403	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9302631	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9302632	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9806882	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9806905	0.89[EUR][1000 genomes]
rs9888748	0.90[EUR][1000 genomes]
rs9889011	0.90[EUR][1000 genomes]
rs9921412	0.91[EUR][1000 genomes]
rs9932922	0.96[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9934803	0.93[EUR][1000 genomes]
rs9934812	0.93[EUR][1000 genomes]
rs9937936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv906893	chr16:71922663-71988728	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71927800-71931000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr16:71927800-71931000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:71927800-71931200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:71927800-71931200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr16:71927800-71931200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr16:71927800-71931200	Active TSS	Right Ventricle	heart
7	chr16:71927800-71931200	Active TSS	HSMM	muscle
8	chr16:71927800-71931400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr16:71927800-71931400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr16:71928000-71931000	Active TSS	Left Ventricle	heart
11	chr16:71928000-71931000	Active TSS	Psoas Muscle	Psoas
12	chr16:71928000-71931000	Active TSS	A549	lung
13	chr16:71928000-71931200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr16:71928000-71931200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr16:71928000-71931200	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr16:71928000-71932000	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr16:71928200-71931000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr16:71928200-71931000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr16:71928200-71931000	Active TSS	HSMMtube	muscle
20	chr16:71928200-71931200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr16:71928200-71931200	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr16:71928200-71931400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:71928200-71931400	Active TSS	GM12878-XiMat	blood
24	chr16:71929400-71931000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:71929400-71931000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr16:71929400-71931200	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr16:71929600-71931600	Active TSS	Right Atrium	heart
28	chr16:71929800-71931000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr16:71929800-71931200	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr16:71929800-71931200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr16:71930000-71931000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr16:71930000-71931200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr16:71930000-71931200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:71930000-71931200	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr16:71930000-71931600	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr16:71930000-71931600	Active TSS	Fetal Brain Female	brain
37	chr16:71930200-71931000	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr16:71930400-71931000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr16:71930400-71931000	Flanking Active TSS	Fetal Stomach	stomach
40	chr16:71930400-71931000	Flanking Active TSS	Thymus	Thymus
41	chr16:71930400-71931000	Flanking Active TSS	NH-A	brain
42	chr16:71930400-71931000	Flanking Active TSS	NHEK	skin
43	chr16:71930400-71931000	Flanking Active TSS	Osteobl	bone
44	chr16:71930400-71931200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr16:71930400-71931200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr16:71930400-71931200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr16:71930400-71931200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr16:71930400-71931200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr16:71930400-71931200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr16:71930400-71931200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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