Variant report

Variant	rs13337470
Chromosome Location	chr16:31105392-31105393
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	MAX	chr16:31105284-31106441	H1-hESC	embryonic stem cell:	n/a	chr16:31105374-31105383 chr16:31105850-31105859
2	HA-E2F1	chr16:31105348-31106461	MCF-7	breast:	n/a	chr16:31106149-31106158
3	MAX	chr16:31105275-31106467	A549	lung:	n/a	chr16:31105374-31105383 chr16:31105850-31105859
4	E2F6	chr16:31105205-31106391	H1-hESC	embryonic stem cell:	n/a	chr16:31106149-31106158
5	SMARCB1	chr16:31105337-31106250	Hela-S3	cervix:	n/a	n/a
6	E2F6	chr16:31105324-31106371	A549	lung:	n/a	chr16:31106149-31106158
7	ETS1	chr16:31105377-31106416	K562	blood:	n/a	chr16:31106304-31106311 chr16:31106302-31106315 chr16:31105850-31105863 chr16:31106303-31106316
8	MAX	chr16:31105365-31106445	Hela-S3	cervix:	n/a	chr16:31105374-31105383 chr16:31105850-31105859
9	CREB1	chr16:31105251-31106454	HepG2	liver:	n/a	n/a
10	MAX	chr16:31105318-31106444	A549	lung:	n/a	chr16:31105374-31105383 chr16:31105850-31105859
11	TCF12	chr16:31105362-31106475	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr16:31103890-31106642	HepG2	liver:	n/a	n/a
13	CREB1	chr16:31105376-31106427	K562	blood:	n/a	n/a
14	MAX	chr16:31105295-31106433	MCF-7	breast:	n/a	chr16:31105374-31105383 chr16:31105850-31105859
15	SIN3A	chr16:31105348-31106505	GM12878	blood:	n/a	n/a
16	YY1	chr16:31105283-31105600	SK-N-SH_RA	brain:	n/a	n/a
17	MAX	chr16:31105358-31106426	ECC-1	luminal epithelium:	n/a	chr16:31105374-31105383 chr16:31105850-31105859
18	TFAP2C	chr16:31105288-31106432	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr16:31105302-31106517	SK-N-MC	brain:	n/a	n/a
20	MAX	chr16:31105313-31106466	HCT-116	colon:	n/a	chr16:31105374-31105383 chr16:31105850-31105859
21	POLR2A	chr16:31105314-31106433	Hela-S3	cervix:	n/a	n/a
22	MAX	chr16:31105342-31106440	SK-N-SH	brain:	n/a	chr16:31105374-31105383 chr16:31105850-31105859
23	MXI1	chr16:31105220-31106478	IMR90	lung:	n/a	n/a
24	SIN3AK20	chr16:31105319-31106477	MCF-7	breast:	n/a	n/a
25	MXI1	chr16:31105384-31106496	GM12878	blood:	n/a	n/a
26	YY1	chr16:31105289-31106427	GM12892	blood:	n/a	chr16:31105589-31105601
27	MAX	chr16:31105284-31106431	HepG2	liver:	n/a	chr16:31105374-31105383 chr16:31105850-31105859
28	STAT5A	chr16:31105391-31106302	GM12878	blood:	n/a	chr16:31106126-31106138
29	MAX	chr16:31105303-31106438	K562	blood:	n/a	chr16:31105374-31105383 chr16:31105850-31105859
30	YY1	chr16:31105343-31105661	GM12891	blood:	n/a	chr16:31105589-31105601
31	SIN3A	chr16:31105307-31106444	H1-hESC	embryonic stem cell:	n/a	n/a
32	TBP	chr16:31105357-31105486	K562	blood:	n/a	n/a
33	POLR2A	chr16:31103667-31119079	K562	blood:	n/a	n/a
34	REST	chr16:31105186-31106439	H1-neurons	neurons:	n/a	chr16:31105432-31105442
35	MTA3	chr16:31105235-31106443	GM12878	blood:	n/a	n/a
36	ELF1	chr16:31105310-31107551	GM12878	blood:	n/a	chr16:31106099-31106111 chr16:31107279-31107292
37	POLR2A	chr16:31105370-31106338	Hela-S3	cervix:	n/a	n/a
38	TCF7L2	chr16:31105360-31106392	HCT-116	colon:	n/a	n/a
39	HDAC2	chr16:31105373-31106434	MCF-7	breast:	n/a	n/a
40	TAF1	chr16:31105353-31106429	HepG2	liver:	n/a	n/a
41	PML	chr16:31105366-31106486	GM12878	blood:	n/a	n/a
42	MAX	chr16:31105367-31106436	SK-N-SH	brain:	n/a	chr16:31105374-31105383 chr16:31105850-31105859
43	MXI1	chr16:31104145-31106481	SK-N-SH	brain:	n/a	n/a
44	YY1	chr16:31105334-31106554	HepG2	liver:	n/a	chr16:31105589-31105601
45	GTF2F1	chr16:31105320-31106429	Hela-S3	cervix:	n/a	n/a
46	MAX	chr16:31105323-31106434	ECC-1	luminal epithelium:	n/a	chr16:31105374-31105383 chr16:31105850-31105859
47	MXI1	chr16:31105381-31106479	HepG2	liver:	n/a	n/a
48	YY1	chr16:31105385-31106439	K562	blood:	n/a	chr16:31105589-31105601
49	POLR2A	chr16:31105341-31106418	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr16:31105246-31106507	H1-hESC	embryonic stem cell:	n/a	n/a

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28566553	1.00[AFR][1000 genomes]
rs59532700	0.82[AFR][1000 genomes]
rs8053474	1.00[AFR][1000 genomes]
rs9889109	0.82[AFR][1000 genomes]
rs9924048	0.84[AFR][1000 genomes]
rs9924515	0.82[AFR][1000 genomes]
rs9925820	0.82[AFR][1000 genomes]
rs9932671	0.82[AFR][1000 genomes]

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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31102800-31105400	Weak transcription	Aorta	Aorta
2	chr16:31103000-31105400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:31103800-31105400	Enhancers	Gastric	stomach
4	chr16:31104000-31105600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr16:31104200-31105400	Enhancers	Primary B cells from peripheral blood	blood
6	chr16:31104200-31105400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:31104200-31105400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr16:31104200-31105800	Flanking Active TSS	Dnd41	blood
9	chr16:31104200-31106400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:31104200-31106400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:31104400-31105400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr16:31104400-31105800	Flanking Active TSS	Fetal Muscle Leg	muscle
13	chr16:31104400-31106200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr16:31104400-31106200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr16:31104400-31106200	Active TSS	HSMM	muscle
16	chr16:31104400-31106400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr16:31104400-31106400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr16:31104400-31106400	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr16:31104400-31106400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr16:31104600-31105400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr16:31104600-31105400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr16:31104600-31105400	Flanking Active TSS	Fetal Brain Male	brain
23	chr16:31104600-31105400	Enhancers	Spleen	Spleen
24	chr16:31104600-31105600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr16:31104600-31105800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr16:31104600-31105800	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr16:31104600-31105800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr16:31104600-31105800	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr16:31104600-31106000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr16:31104600-31106200	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr16:31104600-31106200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:31104600-31106200	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr16:31104600-31106200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr16:31104600-31106400	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr16:31104600-31106400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr16:31104600-31106400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:31104600-31106600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr16:31104600-31106600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:31104800-31105400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr16:31104800-31105400	Enhancers	Stomach Mucosa	stomach
41	chr16:31104800-31105600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr16:31104800-31105800	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr16:31104800-31105800	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr16:31104800-31106000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr16:31104800-31106000	Bivalent/Poised TSS	HepG2	liver
46	chr16:31104800-31106200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr16:31104800-31106200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr16:31104800-31106200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:31104800-31106800	Active TSS	HSMMtube	muscle
50	chr16:31105000-31105400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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