Variant report

Variant	rs689460
Chromosome Location	chr16:69760286-69760287
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:413)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	TAF1	chr16:69760110-69760469	GM12891	blood:	n/a	n/a
9	CEBPD	chr16:69760045-69760793	HepG2	liver:	n/a	n/a
10	TCF12	chr16:69760014-69761236	ECC-1	luminal epithelium:	n/a	n/a
11	YY1	chr16:69760014-69760665	GM12878	blood:	n/a	n/a
12	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
13	CHD2	chr16:69760116-69761074	HepG2	liver:	n/a	n/a
14	POLR2A	chr16:69760103-69761172	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr16:69759246-69761561	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr16:69760111-69761074	H1-hESC	embryonic stem cell:	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	YY1	chr16:69760152-69760574	SK-N-SH_RA	brain:	n/a	n/a
24	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
25	MAX	chr16:69760145-69760817	H1-hESC	embryonic stem cell:	n/a	chr16:69760446-69760462
26	POLR2A	chr16:69759969-69761099	GM12891	blood:	n/a	n/a
27	FOXA1	chr16:69760254-69760668	T-47D	breast:	n/a	n/a
28	BCLAF1	chr16:69759913-69760967	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:69760085-69761231	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr16:69759965-69761116	A549	lung:	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	NR2F2	chr16:69759885-69760364	K562	blood:	n/a	n/a
37	YY1	chr16:69760085-69760939	GM12878	blood:	n/a	n/a
38	POLR2A	chr16:69760069-69761212	HL-60	blood:	n/a	n/a
39	GATA3	chr16:69760226-69761215	MCF-7	breast:	n/a	chr16:69760743-69760751
40	POLR2A	chr16:69760074-69761159	A549	lung:	n/a	n/a
41	HMGN3	chr16:69760189-69761160	K562	blood:	n/a	n/a
42	MAX	chr16:69759989-69761211	MCF-7	breast:	n/a	chr16:69760446-69760462
43	CUX1	chr16:69759848-69760593	K562	blood:	n/a	n/a
44	CEBPB	chr16:69760257-69761018	Hela-S3	cervix:	n/a	chr16:69760366-69760374
45	NR3C1	chr16:69760235-69761059	A549	lung:	n/a	chr16:69760910-69760919
46	KAP1	chr16:69760249-69760626	U2OS	brain:	n/a	n/a
47	ZNF143	chr16:69760119-69760571	GM12878	blood:	n/a	n/a
48	SIN3AK20	chr16:69760160-69761041	K562	blood:	n/a	n/a
49	POLR2A	chr16:69759620-69761175	K562	blood:	n/a	n/a
50	POLR2A	chr16:69760177-69760845	HepG2	liver:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:69755811..69761889-chr16:69791851..69798633,14	K562	blood:
2	chr16:69759856..69760477-chr9:139964538..139965074,2	Hela-S3	cervix:
3	chr16:69599623..69601716-chr16:69757663..69760565,3	MCF-7	breast:
4	chr16:69758127..69765240-chr16:69786072..69790209,13	K562	blood:
5	chr16:3156073..3156730-chr16:69759829..69760364,2	Hela-S3	cervix:
6	chr16:69741703..69743553-chr16:69758543..69761964,3	MCF-7	breast:
7	chr16:69363088..69367214-chr16:69757729..69760450,3	MCF-7	breast:
8	chr16:69759977..69760601-chr6:26123707..26124559,2	Hela-S3	cervix:
9	chr16:69757296..69762552-chr16:69785671..69789636,11	K562	blood:
10	chr15:59664607..59665354-chr16:69759970..69760751,2	Hela-S3	cervix:
11	chr15:65596483..65597273-chr16:69760131..69761076,2	Hela-S3	cervix:
12	chr16:69759874..69760457-chr6:27114701..27115264,2	Hela-S3	cervix:
13	chr16:69756628..69762611-chr16:69781362..69792848,24	MCF-7	breast:
14	chr16:69760067..69762510-chr16:69795079..69797612,5	MCF-7	breast:
15	chr16:69757858..69760516-chr16:69796168..69797980,2	MCF-7	breast:
16	chr16:69759967..69760569-chr17:7387261..7388114,2	Hela-S3	cervix:
17	chr16:69759185..69761889-chr16:69795379..69799385,4	K562	blood:
18	chr1:33282755..33283732-chr16:69759684..69760498,2	Hela-S3	cervix:
19	chr16:69759859..69760476-chr9:115141655..115142628,2	Hela-S3	cervix:
20	chr16:69759955..69760753-chr17:56756782..56757406,2	Hela-S3	cervix:
21	chr16:69758592..69760994-chr16:70729394..70731021,2	K562	blood:
22	chr16:69741680..69751385-chr16:69755023..69763559,18	MCF-7	breast:
23	chr16:69759014..69761546-chr17:57916568..57918656,2	MCF-7	breast:
24	chr15:75931960..75934199-chr16:69758900..69760428,2	K562	blood:
25	chr16:69760069..69760838-chr3:32022271..32023246,3	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000262136	TF binding region
ENSG00000200997	Chromatin interaction
ENSG00000238683	Chromatin interaction
ENSG00000116497	Chromatin interaction
ENSG00000258429	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000141101	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000134684	Chromatin interaction
ENSG00000157470	Chromatin interaction
ENSG00000186193	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000177971	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000119471	Chromatin interaction
ENSG00000223109	Chromatin interaction
ENSG00000261602	Chromatin interaction
ENSG00000198373	Chromatin interaction
ENSG00000102908	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000103043	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000144645	Chromatin interaction
ENSG00000260290	Chromatin interaction
ENSG00000157483	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10454066	0.81[YRI][hapmap]
rs11075728	0.82[YRI][hapmap]
rs11639947	0.81[YRI][hapmap]
rs11642030	0.82[YRI][hapmap]
rs12595869	0.81[YRI][hapmap]
rs16958970	0.81[YRI][hapmap]
rs16959200	1.00[EUR][1000 genomes]
rs1800566	0.81[YRI][hapmap]
rs3743673	0.82[YRI][hapmap]
rs41454046	1.00[EUR][1000 genomes]
rs57869957	1.00[EUR][1000 genomes]
rs59740587	1.00[EUR][1000 genomes]
rs60816774	1.00[EUR][1000 genomes]
rs7198242	0.81[YRI][hapmap]
rs7205972	1.00[EUR][1000 genomes]
rs73572193	1.00[EUR][1000 genomes]
rs73576131	1.00[EUR][1000 genomes]
rs73576152	1.00[EUR][1000 genomes]
rs8043950	1.00[EUR][1000 genomes]
rs8053447	1.00[EUR][1000 genomes]
rs9302603	1.00[EUR][1000 genomes]
rs9788837	0.81[YRI][hapmap]

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	chr16:69756800-69760600	Active TSS	Stomach Mucosa	stomach
2	chr16:69758200-69761200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:69758600-69761400	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr16:69758600-69762600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr16:69758800-69761200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:69759000-69761200	Active TSS	Gastric	stomach
7	chr16:69759000-69761800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr16:69759000-69762000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr16:69759200-69760800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:69759200-69760800	Active TSS	NH-A	brain
11	chr16:69759200-69761200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:69759200-69761400	Active TSS	NHLF	lung
13	chr16:69759400-69760600	Active TSS	Brain Hippocampus Middle	brain
14	chr16:69759400-69760800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr16:69759400-69760800	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr16:69759400-69760800	Active TSS	HSMMtube	muscle
17	chr16:69759400-69761000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:69759400-69761000	Active TSS	Brain Substantia Nigra	brain
19	chr16:69759400-69761600	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr16:69759600-69760600	Active TSS	Muscle Satellite Cultured Cells	--
21	chr16:69759600-69760600	Active TSS	Lung	lung
22	chr16:69759600-69760600	Active TSS	HepG2	liver
23	chr16:69759600-69760600	Active TSS	HMEC	breast
24	chr16:69759600-69760800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:69759600-69760800	Active TSS	NHDF-Ad	bronchial
26	chr16:69759600-69761000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:69759600-69761000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:69759600-69761000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr16:69759600-69761600	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr16:69759600-69761800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:69759600-69761800	Active TSS	A549	lung
32	chr16:69759600-69762000	Active TSS	Hela-S3	cervix
33	chr16:69759800-69760600	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr16:69759800-69760600	Active TSS	Fetal Brain Female	brain
35	chr16:69759800-69760600	Active TSS	Fetal Intestine Large	intestine
36	chr16:69759800-69760600	Active TSS	Right Ventricle	heart
37	chr16:69759800-69760800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:69759800-69760800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr16:69759800-69760800	Active TSS	Colon Smooth Muscle	Colon
40	chr16:69759800-69760800	Active TSS	Esophagus	oesophagus
41	chr16:69759800-69760800	Active TSS	Left Ventricle	heart
42	chr16:69759800-69761000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr16:69759800-69761000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr16:69759800-69761000	Active TSS	Brain Angular Gyrus	brain
45	chr16:69759800-69761000	Active TSS	Brain Anterior Caudate	brain
46	chr16:69759800-69761000	Active TSS	Right Atrium	heart
47	chr16:69759800-69761200	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr16:69759800-69761200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr16:69759800-69761200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr16:69759800-69761200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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