Variant report

Variant	rs8056929
Chromosome Location	chr16:30570011-30570012
allele	G/T
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	YY1	chr16:30569307-30570018	GM12892	blood:	n/a	chr16:30569713-30569723 chr16:30569803-30569825 chr16:30569701-30569723 chr16:30569706-30569725 chr16:30569718-30569727 chr16:30569814-30569822 chr16:30569815-30569825 chr16:30569713-30569723 chr16:30569808-30569827 chr16:30569711-30569723 chr16:30569721-30569730
2	CCNT2	chr16:30569205-30570100	K562	blood:	n/a	n/a
3	CTCF	chr16:30569597-30570039	K562	blood:	n/a	chr16:30569641-30569649
4	POLR2A	chr16:30569519-30570197	HCT-116	colon:	n/a	n/a
5	POLR2A	chr16:30569347-30570202	MCF10A-Er-Src	breast:	n/a	n/a
6	TAF1	chr16:30569307-30570162	A549	lung:	n/a	n/a
7	ZBTB33	chr16:30569783-30570107	HepG2	liver:	n/a	n/a
8	GABPA	chr16:30569695-30570045	K562	blood:	n/a	n/a
9	JUND	chr16:30569613-30570211	A549	lung:	n/a	chr16:30569825-30569836 chr16:30569826-30569836
10	SRF	chr16:30569687-30570052	HepG2	liver:	n/a	n/a
11	BRCA1	chr16:30569799-30570114	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3AK20	chr16:30569283-30570237	MCF-7	breast:	n/a	n/a
13	POLR2A	chr16:30569493-30570214	K562	blood:	n/a	n/a
14	REST	chr16:30568725-30570431	H1-neurons	neurons:	n/a	chr16:30568881-30568889
15	POLR2A	chr16:30568681-30570222	Raji	blood:	n/a	n/a
16	SIN3AK20	chr16:30569386-30570169	K562	blood:	n/a	n/a
17	YY1	chr16:30569020-30570097	GM12892	blood:	n/a	chr16:30569713-30569723 chr16:30569803-30569825 chr16:30569701-30569723 chr16:30569706-30569725 chr16:30569718-30569727 chr16:30569814-30569822 chr16:30569815-30569825 chr16:30569713-30569723 chr16:30569808-30569827 chr16:30569711-30569723 chr16:30569210-30569221 chr16:30569721-30569730
18	NFIC	chr16:30569369-30570246	HepG2	liver:	n/a	n/a
19	MAX	chr16:30568968-30570433	HCT-116	colon:	n/a	n/a
20	YY1	chr16:30569358-30570273	ECC-1	luminal epithelium:	n/a	chr16:30569713-30569723 chr16:30569803-30569825 chr16:30569701-30569723 chr16:30569706-30569725 chr16:30569718-30569727 chr16:30569814-30569822 chr16:30569815-30569825 chr16:30569713-30569723 chr16:30569808-30569827 chr16:30569711-30569723 chr16:30569721-30569730
21	EGR1	chr16:30569290-30570392	HCT-116	colon:	n/a	chr16:30570142-30570153
22	EP300	chr16:30569612-30570250	K562	blood:	n/a	n/a
23	ELF1	chr16:30569361-30570244	MCF-7	breast:	n/a	chr16:30569718-30569727
24	MAX	chr16:30569538-30570054	A549	lung:	n/a	n/a
25	SP1	chr16:30569473-30570129	GM12878	blood:	n/a	n/a
26	ARID3A	chr16:30569585-30570169	K562	blood:	n/a	n/a
27	RCOR1	chr16:30569331-30570183	HepG2	liver:	n/a	n/a
28	POLR2A	chr16:30569395-30570205	K562	blood:	n/a	n/a
29	ATF1	chr16:30569613-30570230	K562	blood:	n/a	n/a
30	ZBTB33	chr16:30569548-30570196	HCT-116	colon:	n/a	n/a
31	MYC	chr16:30569580-30570045	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr16:30569525-30570160	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr16:30569172-30570310	U87	brain:	n/a	n/a
34	ETS1	chr16:30569423-30570026	K562	blood:	n/a	n/a
35	FOXA2	chr16:30569622-30570115	HepG2	liver:	n/a	n/a
36	EP300	chr16:30569665-30570134	K562	blood:	n/a	n/a
37	FOS	chr16:30569608-30570018	MCF10A-Er-Src	breast:	n/a	chr16:30569826-30569836
38	POLR2A	chr16:30569276-30570350	H1-hESC	embryonic stem cell:	n/a	n/a
39	RFX5	chr16:30569893-30570134	HepG2	liver:	n/a	n/a
40	TEAD4	chr16:30569493-30570419	K562	blood:	n/a	n/a
41	POLR2A	chr16:30569322-30570320	HUVEC	blood vessel:	n/a	n/a
42	BHLHE40	chr16:30569517-30570029	GM12878	blood:	n/a	n/a
43	ELF1	chr16:30569435-30570089	MCF-7	breast:	n/a	chr16:30569718-30569727
44	POLR2A	chr16:30569139-30570161	GM18526	blood:	n/a	n/a
45	POLR2A	chr16:30568718-30570160	GM12891	blood:	n/a	n/a
46	E2F4	chr16:30569429-30570035	K562	blood:	n/a	chr16:30569721-30569730
47	BHLHE40	chr16:30569570-30570317	K562	blood:	n/a	n/a
48	CHD2	chr16:30569620-30570176	HepG2	liver:	n/a	n/a
49	RCOR1	chr16:30569509-30570297	K562	blood:	n/a	n/a
50	CBX3	chr16:30569858-30570360	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30569976-30570026	AG04450	lung:	fetal
2	chr16:30569976-30570026	NT2-D1	testis:	n/a
3	chr16:30569978-30570028	AG09309	skin:	n/a
4	chr16:30569976-30570026	Caco-2	colon:	n/a
5	chr16:30569978-30570028	NB4	blood:	n/a
6	chr16:30569978-30570028	NT2-D1	testis:	n/a
7	chr16:30569976-30570026	AG10803	skin:	n/a
8	chr16:30569976-30570026	PANC-1	pancreas:	n/a
9	chr16:30569978-30570028	SK-N-SH_RA	brain:	n/a
10	chr16:30569978-30570028	HRE	kidney:	n/a
11	chr16:30569978-30570028	ovcar-3	ovarian:	n/a
12	chr16:30569978-30570028	NH-A	brain:	n/a
13	chr16:30569978-30570028	ECC-1	luminal epithelium:	n/a
14	chr16:30569978-30570028	HCF	heart:	n/a
15	chr16:30569978-30570028	PFSK-1	brain:	n/a
16	chr16:30569976-30570026	SK-N-MC	brain:	n/a
17	chr16:30569978-30570028	HMEC	breast:	n/a
18	chr16:30569978-30570028	HRCEpiC	kidney:	n/a
19	chr16:30569978-30570028	A549	lung:	n/a
20	chr16:30569976-30570026	IMR90	lung:	fetal
21	chr16:30569978-30570028	AoSMC	blood vessel:	n/a
22	chr16:30569978-30570028	RPTEC	kidney:	n/a
23	chr16:30569976-30570026	NHDF-neo	bronchial:	n/a
24	chr16:30569978-30570028	MCF10A-Er-Src	breast:	n/a
25	chr16:30569978-30570028	NHBE	bronchial:	n/a
26	chr16:30569976-30570026	HCM	heart:	n/a
27	chr16:30569976-30570026	HRE	kidney:	n/a
28	chr16:30569978-30570028	Hepatocyte	liver:	n/a
29	chr16:30569978-30570028	GM12891	blood:	n/a
30	chr16:30569976-30570026	BJ	skin:	n/a
31	chr16:30569976-30570026	HCPEpiC	choroid plexus:	n/a
32	chr16:30569978-30570028	Hela-S3	cervix:	n/a
33	chr16:30569976-30570026	T-47D	breast:	n/a
34	chr16:30569976-30570026	SK-N-SH_RA	brain:	n/a
35	chr16:30569976-30570026	GM12891	blood:	n/a
36	chr16:30569978-30570028	HPAEpiC	pulmonary alveolar:	n/a
37	chr16:30569976-30570026	PrEC	prostate:	n/a
38	chr16:30569976-30570026	MCF-7	breast:	n/a
39	chr16:30569976-30570026	HRCEpiC	kidney:	n/a
40	chr16:30569978-30570028	AG09319	gingival:	n/a
41	chr16:30569976-30570026	GM12878	blood:	n/a
42	chr16:30569978-30570028	ProgFib	skin:	n/a
43	chr16:30569976-30570026	HEK293	kidney:	embryo
44	chr16:30569978-30570028	SKMC	muscle:	n/a
45	chr16:30569976-30570026	HAEpiC	amniotic membrane:	n/a
46	chr16:30569976-30570026	HIPEpiC	eye:	n/a
47	chr16:30569978-30570028	PrEC	prostate:	n/a
48	chr16:30569978-30570028	HepG2	liver:	n/a
49	chr16:30569978-30570028	HL-60	blood:	n/a
50	chr16:30569976-30570026	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type
1	chr16:30455450..30458862-chr16:30569304..30572069,4	K562	blood:
2	chr16:30567563..30571772-chr16:30581766..30584287,7	MCF-7	breast:
3	chr16:30545977..30548808-chr16:30568240..30572636,5	K562	blood:
4	chr16:30555395..30557197-chr16:30569839..30572289,2	K562	blood:
5	chr16:30534557..30548684-chr16:30561877..30572653,49	MCF-7	breast:
6	chr16:30545944..30548930-chr16:30568116..30571083,5	K562	blood:
7	chr16:30569565..30570310-chr17:41115952..41116748,2	Hela-S3	cervix:
8	chr16:30566138..30571776-chr16:30580042..30586389,14	K562	blood:
9	chr16:30567962..30575227-chr16:30576961..30586002,21	MCF-7	breast:
10	chr16:30440234..30443993-chr16:30568188..30571380,4	MCF-7	breast:
11	chr16:30568302..30571284-chr16:30621692..30624575,2	MCF-7	breast:
12	chr16:30569322..30571012-chr16:30595108..30597618,2	K562	blood:
13	chr16:30569328..30570273-chr16:30583071..30583783,3	MCF-7	breast:
14	chr16:30568530..30574160-chr16:30594464..30599047,9	MCF-7	breast:
15	chr16:30455822..30457375-chr16:30569677..30571496,2	MCF-7	breast:
16	chr16:30568254..30570090-chr16:30667629..30670948,3	K562	blood:
17	chr16:30440010..30443715-chr16:30568872..30571255,4	MCF-7	breast:
18	chr16:30455870..30458862-chr16:30569304..30571226,2	K562	blood:
19	chr16:30568081..30571222-chr16:30660229..30663794,5	K562	blood:
20	chr16:30546047..30547051-chr16:30568755..30570523,5	MCF-7	breast:
21	chr16:30567520..30571513-chr16:30580042..30586732,13	K562	blood:

Variant related genes	Relation type
ZNF764	TF binding region
ENSG00000260869	TF binding region
ENSG00000260869	CpG island
ZNF764	CpG island
ENSG00000179958	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000169955	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000266967	Chromatin interaction
ENSG00000261459	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000260167	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17790906	0.82[MEX][hapmap]
rs17839548	0.87[GIH][hapmap]
rs56153335	0.81[EUR][1000 genomes]
rs6565191	1.00[CHD][hapmap]
rs72793351	0.81[EUR][1000 genomes]
rs8044603	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs8063005	0.93[CEU][hapmap];0.87[GIH][hapmap];0.84[YRI][hapmap]
rs9888820	0.84[EUR][1000 genomes]
rs9924077	0.95[YRI][hapmap]
rs9934806	0.93[CEU][hapmap];0.87[GIH][hapmap];0.83[EUR][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	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
4	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8056929	ZNF689	cis	brain	seeQTL
rs8056929	DCTPP1	cis	cerebellum	SCAN
rs8056929	SPN	cis	parietal	SCAN
rs8056929	ZNF843	cis	cerebellum	SCAN
rs8056929	ENSG00000156853	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30568400-30570200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr16:30568400-30570400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:30568400-30570400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr16:30568400-30570400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:30568400-30570400	Active TSS	Fetal Brain Female	brain
6	chr16:30568600-30570200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr16:30568600-30570200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:30568600-30570200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:30568600-30570200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr16:30568600-30570200	Active TSS	Pancreas	Pancrea
11	chr16:30568600-30570200	Active TSS	HSMM	muscle
12	chr16:30568600-30570200	Active TSS	HSMMtube	muscle
13	chr16:30568600-30570200	Active TSS	NHDF-Ad	bronchial
14	chr16:30568600-30570400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr16:30568600-30570400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr16:30568600-30570400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:30568600-30570400	Active TSS	Osteobl	bone
18	chr16:30568800-30570200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr16:30568800-30570200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:30568800-30570200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr16:30568800-30570200	Active TSS	Esophagus	oesophagus
22	chr16:30568800-30570200	Active TSS	Fetal Kidney	kidney
23	chr16:30568800-30570200	Active TSS	Gastric	stomach
24	chr16:30568800-30570200	Active TSS	Left Ventricle	heart
25	chr16:30568800-30570200	Active TSS	Ovary	ovary
26	chr16:30568800-30570200	Active TSS	Right Ventricle	heart
27	chr16:30568800-30570400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:30568800-30570400	Active TSS	Brain Substantia Nigra	brain
29	chr16:30568800-30570400	Active TSS	Colon Smooth Muscle	Colon
30	chr16:30569000-30570200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr16:30569000-30570200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr16:30569000-30570200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:30569000-30570200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr16:30569000-30570200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:30569000-30570200	Active TSS	Brain Anterior Caudate	brain
36	chr16:30569000-30570200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:30569000-30570200	Active TSS	Psoas Muscle	Psoas
38	chr16:30569000-30570200	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr16:30569000-30570200	Active TSS	Right Atrium	heart
40	chr16:30569000-30570400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr16:30569000-30570400	Active TSS	Brain Angular Gyrus	brain
42	chr16:30569000-30570400	Active TSS	A549	lung
43	chr16:30569000-30570600	Active TSS	Thymus	Thymus
44	chr16:30569200-30570200	Active TSS	Brain Cingulate Gyrus	brain
45	chr16:30569200-30570200	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr16:30569200-30570200	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr16:30569200-30570400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr16:30569400-30570200	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr16:30569400-30570200	Active TSS	Primary hematopoietic stem cells	blood
50	chr16:30569600-30570200	Active TSS	Colonic Mucosa	Colon

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