Variant report

Variant	rs689454
Chromosome Location	chr16:69761733-69761734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 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	POLR2A	chr16:69761553-69762079	Hela-S3	cervix:	n/a	n/a
3	MAX	chr16:69761288-69762082	A549	lung:	n/a	n/a
4	POLR2A	chr16:69758784-69762098	Hela-S3	cervix:	n/a	n/a
5	CHD2	chr16:69761462-69761741	Hela-S3	cervix:	n/a	n/a
6	GTF2F1	chr16:69760034-69761773	Hela-S3	cervix:	n/a	n/a
7	UBTF	chr16:69761436-69762092	K562	blood:	n/a	n/a
8	POLR2A	chr16:69761535-69761768	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr16:69761507-69761742	A549	lung:	n/a	n/a
10	MAX	chr16:69761491-69762187	K562	blood:	n/a	n/a
11	POLR2A	chr16:69761565-69762071	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr16:69759024-69762149	Hela-S3	cervix:	n/a	n/a
13	E2F6	chr16:69761374-69762229	A549	lung:	n/a	n/a
14	CEBPB	chr16:69761724-69761759	Hela-S3	cervix:	n/a	n/a
15	UBTF	chr16:69761465-69761737	K562	blood:	n/a	n/a
16	EP300	chr16:69760069-69761737	A549	lung:	n/a	chr16:69761583-69761590
17	TBP	chr16:69760063-69762124	Hela-S3	cervix:	n/a	n/a
18	FOSL2	chr16:69761420-69761938	A549	lung:	n/a	n/a
19	MAX	chr16:69759767-69762253	A549	lung:	n/a	chr16:69760446-69760462
20	MAX	chr16:69761463-69762125	Hela-S3	cervix:	n/a	n/a
21	HCFC1	chr16:69759627-69762365	Hela-S3	cervix:	n/a	n/a
22	TCF12	chr16:69758736-69761990	A549	lung:	n/a	n/a
23	POLR2A	chr16:69758931-69761864	MCF-7	breast:	n/a	n/a
24	E2F6	chr16:69761580-69761781	K562	blood:	n/a	n/a
25	POLR2A	chr16:69760048-69762083	K562	blood:	n/a	n/a
26	MAX	chr16:69759617-69762681	A549	lung:	n/a	chr16:69762517-69762527 chr16:69760446-69760462
27	POLR2A	chr16:69761557-69761749	A549	lung:	n/a	n/a
28	SMARCB1	chr16:69759427-69761770	Hela-S3	cervix:	n/a	chr16:69760911-69760920
29	POLR2A	chr16:69761195-69761734	K562	blood:	n/a	n/a
30	POLR2A	chr16:69761584-69761743	A549	lung:	n/a	n/a
31	POLR2A	chr16:69761592-69762089	K562	blood:	n/a	n/a
32	POLR2A	chr16:69759948-69762089	K562	blood:	n/a	n/a
33	RPC155	chr16:69760988-69761789	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr16:69759239-69761792	K562	blood:	n/a	n/a
35	MAFF	chr16:69761713-69762129	K562	blood:	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
ENSG00000261602	Chromatin interaction
ENSG00000260772	Chromatin interaction
ENSG00000198373	Chromatin interaction
ENSG00000132603	Chromatin interaction
ENSG00000141101	Chromatin interaction
ENSG00000132612	Chromatin interaction
ENSG00000236383	Chromatin interaction
ENSG00000238683	Chromatin interaction
ENSG00000213380	Chromatin interaction
ENSG00000260290	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs11863900	1.00[ASN][1000 genomes]
rs11864904	1.00[ASN][1000 genomes]
rs1437137	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16958951	1.00[ASN][1000 genomes]
rs16958953	1.00[ASN][1000 genomes]
rs17230557	1.00[ASN][1000 genomes]
rs17230612	1.00[ASN][1000 genomes]
rs17231138	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17231474	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17297088	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17297207	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17298718	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17300801	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28444781	1.00[ASN][1000 genomes]
rs45564335	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55635123	1.00[ASN][1000 genomes]
rs55844704	1.00[ASN][1000 genomes]
rs55897481	1.00[ASN][1000 genomes]
rs55921818	1.00[ASN][1000 genomes]
rs56000913	1.00[ASN][1000 genomes]
rs56043436	1.00[ASN][1000 genomes]
rs56073658	1.00[ASN][1000 genomes]
rs56105992	1.00[ASN][1000 genomes]
rs56127339	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56170853	1.00[ASN][1000 genomes]
rs56171157	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56180453	1.00[ASN][1000 genomes]
rs56186702	1.00[ASN][1000 genomes]
rs56221028	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56369384	1.00[ASN][1000 genomes]
rs56377800	1.00[ASN][1000 genomes]
rs58722949	1.00[ASN][1000 genomes]
rs6499230	1.00[ASN][1000 genomes]
rs6499238	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689453	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7190756	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7191376	1.00[ASN][1000 genomes]
rs7193205	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7203292	1.00[ASN][1000 genomes]
rs7204326	1.00[ASN][1000 genomes]
rs72783105	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783116	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783117	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783118	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783119	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783121	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783128	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783139	0.80[EUR][1000 genomes]
rs72783158	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783160	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783163	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783165	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783174	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783183	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783184	1.00[ASN][1000 genomes]
rs72783188	1.00[ASN][1000 genomes]
rs72783189	1.00[ASN][1000 genomes]
rs72783195	1.00[ASN][1000 genomes]
rs72783198	1.00[ASN][1000 genomes]
rs72785009	1.00[ASN][1000 genomes]
rs72785012	1.00[ASN][1000 genomes]
rs72785019	1.00[ASN][1000 genomes]
rs72785020	1.00[ASN][1000 genomes]
rs72785024	1.00[ASN][1000 genomes]
rs72785026	1.00[ASN][1000 genomes]
rs72785029	1.00[ASN][1000 genomes]
rs72785033	1.00[ASN][1000 genomes]
rs72785034	1.00[ASN][1000 genomes]
rs72785037	1.00[ASN][1000 genomes]
rs72785038	1.00[ASN][1000 genomes]
rs72785045	1.00[ASN][1000 genomes]
rs72785047	1.00[ASN][1000 genomes]
rs72785048	1.00[ASN][1000 genomes]
rs72785052	1.00[ASN][1000 genomes]
rs72785055	1.00[ASN][1000 genomes]
rs72785058	1.00[ASN][1000 genomes]
rs72785059	1.00[ASN][1000 genomes]
rs72785064	1.00[ASN][1000 genomes]
rs72785065	1.00[ASN][1000 genomes]
rs72785073	1.00[ASN][1000 genomes]
rs72799373	1.00[ASN][1000 genomes]
rs72799378	1.00[ASN][1000 genomes]
rs72799379	1.00[ASN][1000 genomes]
rs72799381	1.00[ASN][1000 genomes]
rs72799385	1.00[ASN][1000 genomes]
rs72799386	1.00[ASN][1000 genomes]
rs72799387	1.00[ASN][1000 genomes]
rs72799393	1.00[ASN][1000 genomes]
rs72799394	1.00[ASN][1000 genomes]
rs72799398	1.00[ASN][1000 genomes]
rs72799400	1.00[ASN][1000 genomes]
rs72799402	1.00[ASN][1000 genomes]
rs72801305	1.00[ASN][1000 genomes]
rs72801307	1.00[ASN][1000 genomes]
rs72801308	1.00[ASN][1000 genomes]
rs72801312	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72801314	1.00[ASN][1000 genomes]
rs72801315	1.00[ASN][1000 genomes]
rs72801317	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72801318	1.00[ASN][1000 genomes]
rs72801319	1.00[ASN][1000 genomes]
rs72801320	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72801321	1.00[ASN][1000 genomes]
rs72801322	1.00[ASN][1000 genomes]
rs72801323	1.00[ASN][1000 genomes]
rs72801325	1.00[ASN][1000 genomes]
rs72801326	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72801328	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72801330	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801332	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801333	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801337	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801338	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801339	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801344	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801347	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801350	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72801352	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801354	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8049366	1.00[ASN][1000 genomes]
rs8055148	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8062809	1.00[ASN][1000 genomes]
rs9935643	1.00[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:105 , 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	chr16:69759600-69761800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:69759600-69761800	Active TSS	A549	lung
6	chr16:69759600-69762000	Active TSS	Hela-S3	cervix
7	chr16:69759800-69761800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr16:69759800-69761800	Flanking Active TSS	Dnd41	blood
9	chr16:69760200-69761800	Active TSS	K562	blood
10	chr16:69760600-69761800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr16:69760600-69761800	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr16:69760600-69761800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr16:69760600-69761800	Flanking Active TSS	HepG2	liver
14	chr16:69760600-69762200	Enhancers	Spleen	Spleen
15	chr16:69760800-69761800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:69761000-69761800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr16:69761000-69773200	Weak transcription	Brain Germinal Matrix	brain
18	chr16:69761000-69773400	Weak transcription	Fetal Lung	lung
19	chr16:69761200-69761800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr16:69761200-69761800	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr16:69761200-69761800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr16:69761200-69761800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr16:69761200-69761800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:69761200-69761800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr16:69761200-69761800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr16:69761200-69761800	Enhancers	Right Atrium	heart
27	chr16:69761200-69762000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr16:69761200-69762000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr16:69761200-69762000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr16:69761200-69762000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr16:69761200-69762000	Enhancers	Stomach Mucosa	stomach
32	chr16:69761200-69762000	Enhancers	HSMMtube	muscle
33	chr16:69761200-69762200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:69761200-69762200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr16:69761200-69762200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr16:69761200-69762200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr16:69761200-69762200	Enhancers	Lung	lung
38	chr16:69761200-69762400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:69761200-69762800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:69761200-69772600	Weak transcription	Fetal Stomach	stomach
41	chr16:69761200-69773000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr16:69761200-69773000	Weak transcription	Fetal Brain Female	brain
43	chr16:69761200-69773000	Weak transcription	Fetal Intestine Large	intestine
44	chr16:69761200-69773200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr16:69761200-69773200	Weak transcription	Pancreas	Pancrea
46	chr16:69761200-69775400	Weak transcription	Fetal Brain Male	brain
47	chr16:69761200-69776200	Weak transcription	Ovary	ovary
48	chr16:69761400-69761800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:69761400-69761800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr16:69761400-69761800	Enhancers	Primary T helper cells PMA-I stimulated	--

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