Variant report

Variant	rs689459
Chromosome Location	chr16:69760622-69760623
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr16:69760033-69761216	Hela-S3	cervix:	n/a	n/a
2	TAF7	chr16:69760190-69760642	K562	blood:	n/a	n/a
3	GTF2B	chr16:69760068-69761163	K562	blood:	n/a	n/a
4	POLR2A	chr16:69760209-69761118	A549	lung:	n/a	n/a
5	ZNF143	chr16:69760096-69761164	Hela-S3	cervix:	n/a	chr16:69760599-69760617 chr16:69760594-69760613
6	POLR2A	chr16:69757538-69761443	HepG2	liver:	n/a	n/a
7	TAF1	chr16:69759995-69761131	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPD	chr16:69760045-69760793	HepG2	liver:	n/a	n/a
9	TCF12	chr16:69760014-69761236	ECC-1	luminal epithelium:	n/a	n/a
10	YY1	chr16:69760014-69760665	GM12878	blood:	n/a	n/a
11	NFYA	chr16:69760074-69760910	Hela-S3	cervix:	n/a	chr16:69760358-69760376 chr16:69760365-69760375 chr16:69760366-69760378 chr16:69760362-69760377 chr16:69760363-69760377 chr16:69760362-69760377
12	CHD2	chr16:69760116-69761074	HepG2	liver:	n/a	n/a
13	POLR2A	chr16:69760103-69761172	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr16:69759246-69761561	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr16:69760111-69761074	H1-hESC	embryonic stem cell:	n/a	n/a
16	STAT3	chr16:69760307-69761029	MCF10A-Er-Src	breast:	n/a	n/a
17	NR3C1	chr16:69760241-69761036	A549	lung:	n/a	chr16:69760910-69760919
18	POLR2A	chr16:69759975-69761144	GM12891	blood:	n/a	n/a
19	POLR2A	chr16:69760035-69761071	HL-60	blood:	n/a	n/a
20	PBX3	chr16:69760000-69761184	A549	lung:	n/a	chr16:69760365-69760374
21	BHLHE40	chr16:69760247-69760921	HepG2	liver:	n/a	n/a
22	POLR2A	chr16:69760053-69761446	MCF-7	breast:	n/a	n/a
23	REST	chr16:69760010-69761224	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
24	MAX	chr16:69760145-69760817	H1-hESC	embryonic stem cell:	n/a	chr16:69760446-69760462
25	POLR2A	chr16:69759969-69761099	GM12891	blood:	n/a	n/a
26	FOXA1	chr16:69760254-69760668	T-47D	breast:	n/a	n/a
27	BCLAF1	chr16:69759913-69760967	GM12878	blood:	n/a	n/a
28	POLR2A	chr16:69760085-69761231	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr16:69759965-69761116	A549	lung:	n/a	n/a
30	CTCF	chr16:69760540-69760690	HMEC	breast:	n/a	n/a
31	GTF2F1	chr16:69760264-69760936	H1-hESC	embryonic stem cell:	n/a	n/a
32	CBX3	chr16:69759971-69761072	K562	blood:	n/a	n/a
33	SIN3AK20	chr16:69760089-69761141	SK-N-SH	brain:	n/a	n/a
34	BHLHE40	chr16:69760277-69761059	A549	lung:	n/a	n/a
35	POLR2A	chr16:69758784-69762098	Hela-S3	cervix:	n/a	n/a
36	YY1	chr16:69760085-69760939	GM12878	blood:	n/a	n/a
37	POLR2A	chr16:69760069-69761212	HL-60	blood:	n/a	n/a
38	GATA3	chr16:69760226-69761215	MCF-7	breast:	n/a	chr16:69760743-69760751
39	POLR2A	chr16:69760074-69761159	A549	lung:	n/a	n/a
40	HMGN3	chr16:69760189-69761160	K562	blood:	n/a	n/a
41	NFIC	chr16:69760322-69761043	GM12878	blood:	n/a	n/a
42	MAX	chr16:69759989-69761211	MCF-7	breast:	n/a	chr16:69760446-69760462
43	CEBPB	chr16:69760257-69761018	Hela-S3	cervix:	n/a	chr16:69760366-69760374
44	NR3C1	chr16:69760235-69761059	A549	lung:	n/a	chr16:69760910-69760919
45	KAP1	chr16:69760249-69760626	U2OS	brain:	n/a	n/a
46	SIN3AK20	chr16:69760160-69761041	K562	blood:	n/a	n/a
47	POLR2A	chr16:69759620-69761175	K562	blood:	n/a	n/a
48	POLR2A	chr16:69760177-69760845	HepG2	liver:	n/a	n/a
49	RUNX3	chr16:69759877-69761153	GM12878	blood:	n/a	n/a
50	ELF1	chr16:69760069-69761120	A549	lung:	n/a	n/a

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	chr16:69758127..69765240-chr16:69786072..69790209,13	K562	blood:
4	chr16:69741703..69743553-chr16:69758543..69761964,3	MCF-7	breast:
5	chr16:69736062..69737792-chr16:69760571..69762249,2	K562	blood:
6	chr16:69757296..69762552-chr16:69785671..69789636,11	K562	blood:
7	chr15:59664607..59665354-chr16:69759970..69760751,2	Hela-S3	cervix:
8	chr15:65596483..65597273-chr16:69760131..69761076,2	Hela-S3	cervix:
9	chr16:69756628..69762611-chr16:69781362..69792848,24	MCF-7	breast:
10	chr13:21750653..21751540-chr16:69760391..69760971,2	Hela-S3	cervix:
11	chr16:69760067..69762510-chr16:69795079..69797612,5	MCF-7	breast:
12	chr1:160231868..160232438-chr16:69760352..69760879,2	Hela-S3	cervix:
13	chr16:69759185..69761889-chr16:69795379..69799385,4	K562	blood:
14	chr16:69760319..69761822-chr17:41380625..41382126,2	MCF-7	breast:
15	chr16:69343879..69346969-chr16:69760328..69762421,3	MCF-7	breast:
16	chr1:11968139..11969017-chr16:69760466..69761304,2	Hela-S3	cervix:
17	chr16:69759955..69760753-chr17:56756782..56757406,2	Hela-S3	cervix:
18	chr16:69758592..69760994-chr16:70729394..70731021,2	K562	blood:
19	chr16:69741680..69751385-chr16:69755023..69763559,18	MCF-7	breast:
20	chr16:69759014..69761546-chr17:57916568..57918656,2	MCF-7	breast:
21	chr16:69760069..69760838-chr3:32022271..32023246,3	Hela-S3	cervix:

Variant related genes	Relation type
NQO1	TF binding region
ENSG00000262136	TF binding region
ENSG00000260290	Chromatin interaction
ENSG00000261602	Chromatin interaction
ENSG00000236383	Chromatin interaction
ENSG00000103043	Chromatin interaction
ENSG00000132603	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000157470	Chromatin interaction
ENSG00000132612	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000238683	Chromatin interaction
ENSG00000173141	Chromatin interaction
ENSG00000141101	Chromatin interaction
ENSG00000144645	Chromatin interaction
ENSG00000157483	Chromatin interaction
ENSG00000200997	Chromatin interaction
ENSG00000132716	Chromatin interaction
ENSG00000165480	Chromatin interaction
ENSG00000198373	Chromatin interaction
ENSG00000260772	Chromatin interaction
ENSG00000213380	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11859488	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11860750	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11861496	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11861500	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11862202	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11863013	0.86[AFR][1000 genomes]
rs11864225	0.89[YRI][hapmap]
rs11864406	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11864525	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11865019	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11866304	1.00[AMR][1000 genomes]
rs13330277	0.81[AFR][1000 genomes]
rs28525492	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61730073	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499233	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499235	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499236	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499242	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499245	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7185263	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7185430	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7186199	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7187272	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7188149	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7190711	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195974	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7196193	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7199248	1.00[AMR][1000 genomes]
rs7204285	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7204339	1.00[AMR][1000 genomes]
rs8046469	0.84[YRI][hapmap]
rs8047010	0.89[YRI][hapmap]
rs8047310	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8049055	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8052967	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053497	1.00[AMR][1000 genomes]
rs8054678	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056135	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8058514	0.92[AFR][1000 genomes]
rs8058669	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs8059162	0.89[YRI][hapmap]
rs8059310	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059311	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059804	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8060543	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8062543	0.89[YRI][hapmap]
rs8063483	1.00[AMR][1000 genomes]
rs9746717	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921129	1.00[YRI][hapmap];0.89[AFR][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69758200-69761200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr16:69758600-69761400	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr16:69758600-69762600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr16:69758800-69761200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:69759000-69761200	Active TSS	Gastric	stomach
6	chr16:69759000-69761800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr16:69759000-69762000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr16:69759200-69760800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:69759200-69760800	Active TSS	NH-A	brain
10	chr16:69759200-69761200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr16:69759200-69761400	Active TSS	NHLF	lung
12	chr16:69759400-69760800	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr16:69759400-69760800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr16:69759400-69760800	Active TSS	HSMMtube	muscle
15	chr16:69759400-69761000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:69759400-69761000	Active TSS	Brain Substantia Nigra	brain
17	chr16:69759400-69761600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr16:69759600-69760800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:69759600-69760800	Active TSS	NHDF-Ad	bronchial
20	chr16:69759600-69761000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:69759600-69761000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr16:69759600-69761000	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr16:69759600-69761600	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr16:69759600-69761800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:69759600-69761800	Active TSS	A549	lung
26	chr16:69759600-69762000	Active TSS	Hela-S3	cervix
27	chr16:69759800-69760800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:69759800-69760800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr16:69759800-69760800	Active TSS	Colon Smooth Muscle	Colon
30	chr16:69759800-69760800	Active TSS	Esophagus	oesophagus
31	chr16:69759800-69760800	Active TSS	Left Ventricle	heart
32	chr16:69759800-69761000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:69759800-69761000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr16:69759800-69761000	Active TSS	Brain Angular Gyrus	brain
35	chr16:69759800-69761000	Active TSS	Brain Anterior Caudate	brain
36	chr16:69759800-69761000	Active TSS	Right Atrium	heart
37	chr16:69759800-69761200	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr16:69759800-69761200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr16:69759800-69761200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr16:69759800-69761200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr16:69759800-69761200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr16:69759800-69761200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr16:69759800-69761200	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr16:69759800-69761400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr16:69759800-69761400	Active TSS	Psoas Muscle	Psoas
46	chr16:69759800-69761400	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr16:69759800-69761400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr16:69759800-69761600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr16:69759800-69761800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr16:69759800-69761800	Flanking Active TSS	Dnd41	blood

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