Variant report

Variant	rs2884737
Chromosome Location	chr16:31105554-31105555
allele	A/C
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	MAX	chr16:31105284-31106441	H1-hESC	embryonic stem cell:	n/a	chr16:31105374-31105383 chr16:31105850-31105859
2	MAX	chr16:31105452-31106416	K562	blood:	n/a	chr16:31105850-31105859
3	RAD21	chr16:31105493-31106417	IMR90	lung:	n/a	chr16:31106281-31106295
4	HA-E2F1	chr16:31105348-31106461	MCF-7	breast:	n/a	chr16:31106149-31106158
5	MAX	chr16:31105275-31106467	A549	lung:	n/a	chr16:31105374-31105383 chr16:31105850-31105859
6	E2F6	chr16:31105205-31106391	H1-hESC	embryonic stem cell:	n/a	chr16:31106149-31106158
7	SMARCB1	chr16:31105337-31106250	Hela-S3	cervix:	n/a	n/a
8	E2F6	chr16:31105324-31106371	A549	lung:	n/a	chr16:31106149-31106158
9	ZEB1	chr16:31105506-31106297	GM12878	blood:	n/a	chr16:31105871-31105880
10	RAD21	chr16:31105487-31105674	A549	lung:	n/a	n/a
11	KAT2A	chr16:31105533-31106059	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr16:31105528-31106495	Raji	blood:	n/a	n/a
13	MAX	chr16:31105437-31105808	H1-hESC	embryonic stem cell:	n/a	n/a
14	ETS1	chr16:31105377-31106416	K562	blood:	n/a	chr16:31106304-31106311 chr16:31106302-31106315 chr16:31105850-31105863 chr16:31106303-31106316
15	MAX	chr16:31105365-31106445	Hela-S3	cervix:	n/a	chr16:31105374-31105383 chr16:31105850-31105859
16	MYC	chr16:31105524-31106419	MCF10A-Er-Src	breast:	n/a	chr16:31105850-31105859
17	HDAC2	chr16:31105395-31106412	HepG2	liver:	n/a	n/a
18	SIN3AK20	chr16:31105430-31105899	H1-hESC	embryonic stem cell:	n/a	n/a
19	TCF7L2	chr16:31105414-31106377	Hela-S3	cervix:	n/a	n/a
20	RCOR1	chr16:31105533-31106367	HepG2	liver:	n/a	n/a
21	MYC	chr16:31105440-31106465	K562	blood:	n/a	chr16:31105850-31105859
22	JUND	chr16:31105430-31105834	H1-hESC	embryonic stem cell:	n/a	n/a
23	CREB1	chr16:31105251-31106454	HepG2	liver:	n/a	n/a
24	MAX	chr16:31105318-31106444	A549	lung:	n/a	chr16:31105374-31105383 chr16:31105850-31105859
25	POLR2A	chr16:31105466-31105710	H1-hESC	embryonic stem cell:	n/a	n/a
26	E2F6	chr16:31105419-31105627	K562	blood:	n/a	n/a
27	TCF12	chr16:31105362-31106475	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr16:31103890-31106642	HepG2	liver:	n/a	n/a
29	MAX	chr16:31105458-31106491	NB4	blood:	n/a	chr16:31105850-31105859
30	E2F1	chr16:31105410-31106419	Hela-S3	cervix:	n/a	chr16:31106149-31106158
31	SIN3AK20	chr16:31105485-31106492	MCF-7	breast:	n/a	n/a
32	CREB1	chr16:31105376-31106427	K562	blood:	n/a	n/a
33	MAX	chr16:31105295-31106433	MCF-7	breast:	n/a	chr16:31105374-31105383 chr16:31105850-31105859
34	ELK1	chr16:31105478-31106370	Hela-S3	cervix:	n/a	n/a
35	MAZ	chr16:31105481-31105576	HepG2	liver:	n/a	n/a
36	BHLHE40	chr16:31105449-31106458	K562	blood:	n/a	chr16:31106275-31106291
37	SIN3A	chr16:31105348-31106505	GM12878	blood:	n/a	n/a
38	YY1	chr16:31105283-31105600	SK-N-SH_RA	brain:	n/a	n/a
39	MAX	chr16:31105358-31106426	ECC-1	luminal epithelium:	n/a	chr16:31105374-31105383 chr16:31105850-31105859
40	TFAP2C	chr16:31105288-31106432	Hela-S3	cervix:	n/a	n/a
41	PBX3	chr16:31105526-31106406	A549	lung:	n/a	n/a
42	ZNF263	chr16:31105542-31106277	HEK293-T-REx	kidney:	n/a	n/a
43	MYC	chr16:31105503-31105661	MCF-7	breast:	n/a	n/a
44	YY1	chr16:31105432-31106432	ECC-1	luminal epithelium:	n/a	chr16:31105589-31105601
45	POLR2A	chr16:31105433-31106369	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr16:31105302-31106517	SK-N-MC	brain:	n/a	n/a
47	MAX	chr16:31105313-31106466	HCT-116	colon:	n/a	chr16:31105374-31105383 chr16:31105850-31105859
48	POLR2A	chr16:31105314-31106433	Hela-S3	cervix:	n/a	n/a
49	MYBL2	chr16:31105401-31106617	HepG2	liver:	n/a	n/a
50	MAX	chr16:31105342-31106440	SK-N-SH	brain:	n/a	chr16:31105374-31105383 chr16:31105850-31105859

No.	Distal block	Cell Line	Cell type
1	chr16:31043165..31047105-chr16:31102487..31107326,5	MCF-7	breast:
2	chr16:30996263..30999050-chr16:31104681..31107631,2	K562	blood:
3	chr16:31104440..31108567-chr16:31128079..31131886,5	MCF-7	breast:
4	chr16:31103018..31109714-chr16:31190079..31193155,12	K562	blood:
5	chr16:31104411..31107220-chr16:31127738..31130777,6	K562	blood:
6	chr16:31104719..31108663-chr16:31190189..31193568,7	MCF-7	breast:
7	chr16:31103889..31108377-chr16:31189247..31192858,8	MCF-7	breast:
8	chr16:31044055..31045706-chr16:31104803..31106842,2	K562	blood:
9	chr16:30995825..30999208-chr16:31104283..31108641,3	MCF-7	breast:
10	chr16:30959011..30961742-chr16:31104551..31107586,3	K562	blood:
11	chr16:31104754..31107641-chr16:31225871..31228750,3	MCF-7	breast:
12	chr16:30993478..30998928-chr16:31103966..31108613,11	MCF-7	breast:
13	chr16:31043723..31046982-chr16:31104763..31108455,4	MCF-7	breast:
14	chr16:31104000..31106191-chr16:31152891..31155014,2	K562	blood:
15	chr16:30968024..30972662-chr16:31101043..31106214,4	MCF-7	breast:
16	chr16:30958416..30960902-chr16:31103309..31106232,3	MCF-7	breast:
17	chr16:31098290..31102055-chr16:31103024..31106957,5	MCF-7	breast:
18	chr16:31103434..31106492-chr16:31118402..31121759,4	K562	blood:
19	chr16:31104992..31108435-chr16:31119873..31122866,3	K562	blood:
20	chr16:31100062..31102619-chr16:31104236..31105774,2	K562	blood:
21	chr16:31008048..31010924-chr16:31103164..31107386,3	MCF-7	breast:
22	chr16:31076020..31078080-chr16:31104345..31106297,2	MCF-7	breast:
23	chr16:31103018..31108579-chr16:31189579..31192896,9	K562	blood:
24	chr16:31104528..31108651-chr16:31117626..31121071,4	MCF-7	breast:
25	chr16:31104484..31106009-chr16:31127592..31130114,2	MCF-7	breast:
26	chr16:30968251..30971465-chr16:31104162..31108928,5	MCF-7	breast:
27	chr16:31105355..31107694-chr16:31153094..31155338,3	MCF-7	breast:

Variant related genes	Relation type
VKORC1	TF binding region
PRSS53	TF binding region
ENSG00000178226	Chromatin interaction
ENSG00000262766	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000151006	Chromatin interaction
ENSG00000261124	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000169900	Chromatin interaction
ENSG00000089280	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11640961	1.00[LWK][hapmap];0.82[MKK][hapmap]
rs2032915	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs4889603	1.00[LWK][hapmap];0.82[MKK][hapmap]
rs8046707	1.00[LWK][hapmap];0.82[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
11	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
12	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
13	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs2884737	STX1B	cis	parietal	SCAN
rs2884737	MYST1	cis	cerebellum	SCAN
rs2884737	STX1B	cis	cerebellum	SCAN
rs2884737	HSD3B7	cis	Whole Blood	GTEx
rs2884737	LAT	cis	parietal	SCAN
rs2884737	AHSP	cis	parietal	SCAN
rs2884737	C16orf93	cis	parietal	SCAN
rs2884737	ZNF668	cis	cerebellum	SCAN
rs2884737	MYST1	cis	parietal	SCAN
rs2884737	NCRNA00095	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31104000-31105600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr16:31104200-31105800	Flanking Active TSS	Dnd41	blood
3	chr16:31104200-31106400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:31104200-31106400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:31104400-31105800	Flanking Active TSS	Fetal Muscle Leg	muscle
6	chr16:31104400-31106200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr16:31104400-31106200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:31104400-31106200	Active TSS	HSMM	muscle
9	chr16:31104400-31106400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr16:31104400-31106400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:31104400-31106400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr16:31104400-31106400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:31104600-31105600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr16:31104600-31105800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr16:31104600-31105800	Flanking Active TSS	Fetal Muscle Trunk	muscle
16	chr16:31104600-31105800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr16:31104600-31105800	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr16:31104600-31106000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr16:31104600-31106200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr16:31104600-31106200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr16:31104600-31106200	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr16:31104600-31106200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr16:31104600-31106400	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr16:31104600-31106400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:31104600-31106400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:31104600-31106600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:31104600-31106600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:31104800-31105600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr16:31104800-31105800	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr16:31104800-31105800	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr16:31104800-31106000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr16:31104800-31106000	Bivalent/Poised TSS	HepG2	liver
33	chr16:31104800-31106200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr16:31104800-31106200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr16:31104800-31106200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr16:31104800-31106800	Active TSS	HSMMtube	muscle
37	chr16:31105000-31105600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr16:31105000-31106000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr16:31105000-31106200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:31105000-31106200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:31105000-31106200	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr16:31105000-31106200	Active TSS	Muscle Satellite Cultured Cells	--
43	chr16:31105000-31106200	Active TSS	A549	lung
44	chr16:31105000-31106200	Active TSS	HMEC	breast
45	chr16:31105000-31106200	Active TSS	HUVEC	blood vessel
46	chr16:31105000-31106200	Active TSS	NH-A	brain
47	chr16:31105000-31106200	Active TSS	NHDF-Ad	bronchial
48	chr16:31105000-31106200	Active TSS	NHLF	lung
49	chr16:31105000-31106400	Active TSS	H1 Cell Line	embryonic stem cell
50	chr16:31105000-31106400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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