Variant report

Variant	rs8060947
Chromosome Location	chr16:70823633-70823634
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr16:70823011-70823949	A549	lung:	n/a	n/a
2	TEAD4	chr16:70823166-70823669	A549	lung:	n/a	n/a
3	ATF3	chr16:70823076-70823759	HCT-116	colon:	n/a	n/a
4	POLR2A	chr16:70823069-70823705	PFSK-1	brain:	n/a	n/a
5	RPC155	chr16:70823213-70823817	K562	blood:	n/a	n/a
6	POLR2A	chr16:70822952-70823967	PFSK-1	brain:	n/a	n/a
7	SP1	chr16:70823127-70823674	A549	lung:	n/a	n/a
8	ZBTB33	chr16:70823157-70823637	A549	lung:	n/a	n/a
9	POLR2A	chr16:70823139-70823876	MCF-7	breast:	n/a	n/a
10	BCL3	chr16:70823181-70823758	A549	lung:	n/a	n/a
11	POLR2A	chr16:70823030-70823792	SK-N-MC	brain:	n/a	n/a
12	REST	chr16:70823157-70823641	A549	lung:	n/a	n/a
13	BCL3	chr16:70823127-70823694	A549	lung:	n/a	n/a
14	ATF3	chr16:70823116-70823880	A549	lung:	n/a	n/a
15	POLR2A	chr16:70823244-70823655	ECC-1	luminal epithelium:	n/a	n/a
16	TCF12	chr16:70823139-70823755	A549	lung:	n/a	n/a
17	ETS1	chr16:70823139-70823729	A549	lung:	n/a	chr16:70823671-70823682 chr16:70823238-70823251
18	EP300	chr16:70823103-70823662	A549	lung:	n/a	n/a
19	SIX5	chr16:70823080-70823715	A549	lung:	n/a	n/a
20	SIN3AK20	chr16:70823206-70823657	A549	lung:	n/a	n/a
21	ATF3	chr16:70823184-70823752	K562	blood:	n/a	n/a
22	SP1	chr16:70823183-70823666	A549	lung:	n/a	n/a
23	TEAD4	chr16:70823161-70823745	ECC-1	luminal epithelium:	n/a	n/a
24	ATF3	chr16:70823109-70823717	HCT-116	colon:	n/a	n/a
25	RPC155	chr16:70823213-70823704	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70817141..70820954-chr16:70822085..70825144,5	K562	blood:
2	chr16:70814166..70816406-chr16:70822559..70825300,2	MCF-7	breast:
3	chr16:70820021..70824247-chr16:70832528..70836441,6	MCF-7	breast:
4	chr16:70820987..70825073-chr16:70825115..70829640,4	MCF-7	breast:
5	chr16:70819364..70820954-chr16:70822085..70823946,2	K562	blood:
6	chr16:70823151..70825602-chr16:70832330..70835062,2	K562	blood:

No data

Variant related genes	Relation type
VAC14	TF binding region
ENSG00000103043	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1009285	0.89[ASN][1000 genomes]
rs11863319	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11864614	0.83[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs11866379	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12920588	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12924064	0.81[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12926985	0.91[ASN][1000 genomes]
rs12928270	0.93[ASN][1000 genomes]
rs12929374	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12934723	0.91[ASN][1000 genomes]
rs12935645	0.91[ASN][1000 genomes]
rs13335758	0.92[ASN][1000 genomes]
rs1551528	0.83[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1551529	0.83[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16970484	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16970513	0.93[CEU][hapmap];0.92[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17248914	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2290614	0.93[CEU][hapmap]
rs28676580	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2902830	0.92[CEU][hapmap]
rs34268521	0.92[ASN][1000 genomes]
rs35144432	0.96[ASN][1000 genomes]
rs35426120	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35665975	0.89[ASN][1000 genomes]
rs3743988	0.86[CEU][hapmap]
rs3760118	0.93[CEU][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3855651	0.85[ASN][1000 genomes]
rs4985364	1.00[CEU][hapmap];0.92[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985423	1.00[CEU][hapmap];0.82[GIH][hapmap]
rs4985425	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs52826576	0.89[ASN][1000 genomes]
rs60190856	0.89[ASN][1000 genomes]
rs6499335	0.93[CEU][hapmap];0.86[MEX][hapmap]
rs6499336	1.00[JPT][hapmap]
rs713511	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs71384769	0.92[ASN][1000 genomes]
rs71401831	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7185921	0.93[CEU][hapmap];0.92[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7188712	0.85[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7194091	0.93[CEU][hapmap];0.88[JPT][hapmap];0.93[MEX][hapmap]
rs7202363	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7203578	1.00[CEU][hapmap]
rs74024449	0.81[ASN][1000 genomes]
rs8044133	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8052615	0.83[ASW][hapmap];0.87[CEU][hapmap];0.92[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9931380	0.87[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv916160	chr16:70809280-71120138	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8060947	VAC14	cis	Lymphoblastoid	GTEx
rs8060947	ST3GAL2	cis	cerebellum	SCAN
rs8060947	FUK	cis	cerebellum	SCAN
rs8060947	VAC14	cis	multi-tissue	Pritchard
rs8060947	VAC14	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70781200-70826800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr16:70785000-70825000	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr16:70785800-70828000	Strong transcription	Primary T cells from cord blood	blood
4	chr16:70788000-70826600	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr16:70799200-70824000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr16:70802400-70825000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr16:70805200-70834000	Weak transcription	Fetal Heart	heart
8	chr16:70807400-70833800	Weak transcription	Fetal Brain Male	brain
9	chr16:70811400-70827600	Strong transcription	Primary B cells from cord blood	blood
10	chr16:70813600-70827400	Strong transcription	HepG2	liver
11	chr16:70815200-70824200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr16:70816200-70827200	Strong transcription	Fetal Intestine Small	intestine
13	chr16:70816600-70824200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr16:70817000-70824000	Weak transcription	Stomach Mucosa	stomach
15	chr16:70817200-70825200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr16:70817200-70826600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr16:70817400-70832600	Weak transcription	Small Intestine	intestine
18	chr16:70818000-70825600	Weak transcription	NH-A	brain
19	chr16:70818000-70833000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr16:70818200-70832600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr16:70818400-70824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:70818400-70832600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr16:70818400-70833400	Weak transcription	HUVEC	blood vessel
24	chr16:70818600-70824400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:70819000-70833400	Weak transcription	K562	blood
26	chr16:70819200-70833000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr16:70819400-70824400	Genic enhancers	Spleen	Spleen
28	chr16:70819400-70832800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr16:70819400-70833600	Weak transcription	NHDF-Ad	bronchial
30	chr16:70819400-70833800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr16:70819800-70833400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:70820000-70833400	Weak transcription	HSMMtube	muscle
33	chr16:70820200-70824000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:70820200-70832400	Weak transcription	Fetal Brain Female	brain
35	chr16:70820200-70833200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr16:70820200-70833200	Weak transcription	Brain Substantia Nigra	brain
37	chr16:70820200-70833400	Weak transcription	Esophagus	oesophagus
38	chr16:70820200-70833400	Weak transcription	NHLF	lung
39	chr16:70820200-70833600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr16:70820200-70833800	Weak transcription	Brain Hippocampus Middle	brain
41	chr16:70820200-70834000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr16:70820400-70823800	Weak transcription	Ovary	ovary
43	chr16:70820400-70825200	Weak transcription	Liver	Liver
44	chr16:70820400-70832600	Weak transcription	Brain Anterior Caudate	brain
45	chr16:70820400-70833000	Weak transcription	HMEC	breast
46	chr16:70820400-70833200	Weak transcription	Brain Angular Gyrus	brain
47	chr16:70820400-70833800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr16:70820400-70834000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr16:70820400-70834000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr16:70820400-70834200	Weak transcription	Colonic Mucosa	Colon

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