Variant report

Variant	rs689456
Chromosome Location	chr16:69761563-69761564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr16:69761506-69762135	K562	blood:	n/a	n/a
2	YY1	chr16:69761529-69761671	K562	blood:	n/a	n/a
3	MAZ	chr16:69761449-69761578	K562	blood:	n/a	n/a
4	POLR2A	chr16:69761553-69762079	Hela-S3	cervix:	n/a	n/a
5	MAX	chr16:69761288-69762082	A549	lung:	n/a	n/a
6	POLR2A	chr16:69758784-69762098	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr16:69761462-69761741	Hela-S3	cervix:	n/a	n/a
8	GTF2F1	chr16:69760034-69761773	Hela-S3	cervix:	n/a	n/a
9	UBTF	chr16:69761436-69762092	K562	blood:	n/a	n/a
10	POLR2A	chr16:69761535-69761768	Hela-S3	cervix:	n/a	n/a
11	TAF1	chr16:69759622-69761664	A549	lung:	n/a	n/a
12	POLR2A	chr16:69761507-69761742	A549	lung:	n/a	n/a
13	MAX	chr16:69761491-69762187	K562	blood:	n/a	n/a
14	POLR2A	chr16:69759024-69762149	Hela-S3	cervix:	n/a	n/a
15	E2F6	chr16:69761374-69762229	A549	lung:	n/a	n/a
16	UBTF	chr16:69761465-69761737	K562	blood:	n/a	n/a
17	EP300	chr16:69760069-69761737	A549	lung:	n/a	chr16:69761583-69761590
18	TBP	chr16:69760063-69762124	Hela-S3	cervix:	n/a	n/a
19	FOSL2	chr16:69761420-69761938	A549	lung:	n/a	n/a
20	POLR2A	chr16:69761447-69761719	HCT-116	colon:	n/a	n/a
21	GTF3C2	chr16:69760838-69761595	Hela-S3	cervix:	n/a	n/a
22	MAX	chr16:69759767-69762253	A549	lung:	n/a	chr16:69760446-69760462
23	MAX	chr16:69761463-69762125	Hela-S3	cervix:	n/a	n/a
24	ELF1	chr16:69761151-69761607	K562	blood:	n/a	n/a
25	HCFC1	chr16:69759627-69762365	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr16:69761539-69761705	A549	lung:	n/a	n/a
27	TCF12	chr16:69758736-69761990	A549	lung:	n/a	n/a
28	POLR2A	chr16:69758931-69761864	MCF-7	breast:	n/a	n/a
29	POLR2A	chr16:69760048-69762083	K562	blood:	n/a	n/a
30	RCOR1	chr16:69758848-69761598	K562	blood:	n/a	n/a
31	REST	chr16:69759696-69761715	A549	lung:	n/a	chr16:69760349-69760369 chr16:69760352-69760365 chr16:69760357-69760367 chr16:69760349-69760369 chr16:69760349-69760362 chr16:69760572-69760585 chr16:69760349-69760369
32	MAX	chr16:69759617-69762681	A549	lung:	n/a	chr16:69762517-69762527 chr16:69760446-69760462
33	POLR2A	chr16:69761557-69761749	A549	lung:	n/a	n/a
34	SMARCB1	chr16:69759427-69761770	Hela-S3	cervix:	n/a	chr16:69760911-69760920
35	POLR2A	chr16:69761195-69761734	K562	blood:	n/a	n/a
36	TBP	chr16:69759208-69761606	K562	blood:	n/a	n/a
37	POLR2A	chr16:69759948-69762089	K562	blood:	n/a	n/a
38	RPC155	chr16:69760988-69761789	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr16:69759239-69761792	K562	blood:	n/a	n/a
40	POLR2A	chr16:69760045-69761654	NB4	blood:	n/a	n/a
41	EP300	chr16:69759801-69761643	A549	lung:	n/a	chr16:69761583-69761590
42	POLR2A	chr16:69759949-69761667	PANC-1	pancreas:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:69755811..69761889-chr16:69791851..69798633,14	K562	blood:
2	chr16:69372207..69373788-chr16:69760411..69761951,2	MCF-7	breast:
3	chr16:69760962..69763485-chr16:69779702..69781778,2	K562	blood:
4	chr16:69758127..69765240-chr16:69786072..69790209,13	K562	blood:
5	chr16:69741703..69743553-chr16:69758543..69761964,3	MCF-7	breast:
6	chr16:69736062..69737792-chr16:69760571..69762249,2	K562	blood:
7	chr16:69757296..69762552-chr16:69785671..69789636,11	K562	blood:
8	chr16:69761047..69762666-chr16:69765285..69767009,2	MCF-7	breast:
9	chr16:69756628..69762611-chr16:69781362..69792848,24	MCF-7	breast:
10	chr16:69760067..69762510-chr16:69795079..69797612,5	MCF-7	breast:
11	chr16:69759185..69761889-chr16:69795379..69799385,4	K562	blood:
12	chr16:69760319..69761822-chr17:41380625..41382126,2	MCF-7	breast:
13	chr16:69343879..69346969-chr16:69760328..69762421,3	MCF-7	breast:
14	chr16:69741680..69751385-chr16:69755023..69763559,18	MCF-7	breast:

No data

Variant related genes	Relation type
NQO1	TF binding region
ENSG00000198373	Chromatin interaction
ENSG00000213380	Chromatin interaction
ENSG00000132612	Chromatin interaction
ENSG00000260290	Chromatin interaction
ENSG00000238683	Chromatin interaction
ENSG00000132603	Chromatin interaction
ENSG00000141101	Chromatin interaction
ENSG00000260772	Chromatin interaction
ENSG00000261602	Chromatin interaction
ENSG00000236383	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10517	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11075736	0.90[EUR][1000 genomes]
rs1139177	0.83[EUR][1000 genomes]
rs1142105	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12102305	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12921017	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13329844	0.93[ASN][1000 genomes]
rs13331055	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13331071	0.84[ASN][1000 genomes]
rs13331216	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13335149	0.87[ASN][1000 genomes]
rs13335664	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13338560	0.84[AMR][1000 genomes]
rs16958965	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16958997	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16959059	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2304526	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28392989	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28473508	0.82[ASN][1000 genomes]
rs2917665	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2917667	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2917669	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2917672	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2917673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2917674	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2917675	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2917676	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2917682	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2917683	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2965752	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2965757	0.83[ASN][1000 genomes]
rs3785075	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs3826154	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3926183	0.82[ASN][1000 genomes]
rs4247107	0.83[EUR][1000 genomes]
rs4247109	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4442796	0.80[EUR][1000 genomes]
rs4619391	0.81[EUR][1000 genomes]
rs61628167	0.84[ASN][1000 genomes]
rs6499246	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6499248	0.83[EUR][1000 genomes]
rs6499249	0.83[EUR][1000 genomes]
rs689452	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7200270	0.81[ASN][1000 genomes]
rs7200420	0.93[ASN][1000 genomes]
rs7204615	0.86[EUR][1000 genomes]
rs7359387	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs8050369	0.81[EUR][1000 genomes]
rs8057938	0.90[EUR][1000 genomes]
rs9888993	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9889219	0.88[ASN][1000 genomes]
rs9921652	0.82[ASN][1000 genomes]
rs9924264	0.85[ASN][1000 genomes]
rs9924271	0.83[ASN][1000 genomes]
rs9924953	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9927809	0.92[ASN][1000 genomes]
rs9934264	0.87[ASN][1000 genomes]
rs9934321	0.92[ASN][1000 genomes]
rs9934681	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9936464	0.86[ASN][1000 genomes]
rs9937018	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	54 gene(s)	inside rSNPs	diseases
2	esv3396845	chr16:69721905-69770627	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv517207	chr16:69745145-69771914	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv524364	chr16:69745145-69803443	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69758600-69762600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr16:69759000-69761800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr16:69759000-69762000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr16:69759400-69761600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr16:69759600-69761600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr16:69759600-69761800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:69759600-69761800	Active TSS	A549	lung
8	chr16:69759600-69762000	Active TSS	Hela-S3	cervix
9	chr16:69759800-69761600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr16:69759800-69761800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr16:69759800-69761800	Flanking Active TSS	Dnd41	blood
12	chr16:69760200-69761600	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr16:69760200-69761800	Active TSS	K562	blood
14	chr16:69760400-69761600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr16:69760600-69761600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr16:69760600-69761600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr16:69760600-69761600	Flanking Active TSS	HMEC	breast
18	chr16:69760600-69761600	Flanking Active TSS	HUVEC	blood vessel
19	chr16:69760600-69761800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr16:69760600-69761800	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr16:69760600-69761800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr16:69760600-69761800	Flanking Active TSS	HepG2	liver
23	chr16:69760600-69762200	Enhancers	Spleen	Spleen
24	chr16:69760800-69761600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:69760800-69761600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:69760800-69761600	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr16:69760800-69761600	Enhancers	Small Intestine	intestine
28	chr16:69760800-69761600	Flanking Active TSS	NHEK	skin
29	chr16:69760800-69761800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr16:69761000-69761600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
31	chr16:69761000-69761600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:69761000-69761600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr16:69761000-69761600	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr16:69761000-69761800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr16:69761000-69773200	Weak transcription	Brain Germinal Matrix	brain
36	chr16:69761000-69773400	Weak transcription	Fetal Lung	lung
37	chr16:69761200-69761600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr16:69761200-69761600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr16:69761200-69761600	Enhancers	Primary B cells from peripheral blood	blood
40	chr16:69761200-69761600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr16:69761200-69761600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr16:69761200-69761600	Enhancers	Colon Smooth Muscle	Colon
43	chr16:69761200-69761600	Enhancers	Fetal Muscle Trunk	muscle
44	chr16:69761200-69761600	Enhancers	Fetal Thymus	thymus
45	chr16:69761200-69761600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr16:69761200-69761600	Enhancers	Thymus	Thymus
47	chr16:69761200-69761800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr16:69761200-69761800	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr16:69761200-69761800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr16:69761200-69761800	Enhancers	Primary T helper cells fromperipheralblood	blood

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