Variant report

Variant	rs569334111
Chromosome Location	chr16:71758010-71758011
allele	C/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	chr16:71757566-71758455	MCF-7	breast:	n/a	chr16:71757985-71757994
2	MAZ	chr16:71756616-71758293	GM12878	blood:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
3	TAF1	chr16:71756752-71758033	ECC-1	luminal epithelium:	n/a	n/a
4	CTCF	chr16:71758000-71758150	GM12874	blood:	n/a	n/a
5	CTBP2	chr16:71757654-71758377	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAZ	chr16:71757461-71758041	HepG2	liver:	n/a	chr16:71757985-71757994
7	POLR2A	chr16:71756829-71758129	ProgFib	skin:	n/a	n/a
8	MYC	chr16:71757557-71758267	K562	blood:	n/a	chr16:71757985-71757994
9	TAF1	chr16:71756754-71758163	H1-hESC	embryonic stem cell:	n/a	n/a
10	GTF2F1	chr16:71757986-71758037	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZEB1	chr16:71757935-71758248	GM12878	blood:	n/a	chr16:71758190-71758197
12	ETS1	chr16:71757536-71758151	K562	blood:	n/a	chr16:71757572-71757583
13	TEAD4	chr16:71757849-71758044	HepG2	liver:	n/a	n/a
14	POLR2A	chr16:71756749-71758263	H1-neurons	neurons:	n/a	n/a
15	MAX	chr16:71757747-71758408	H1-hESC	embryonic stem cell:	n/a	chr16:71757985-71757994
16	E2F6	chr16:71756996-71758318	K562	blood:	n/a	chr16:71757575-71757585 chr16:71757417-71757426 chr16:71758032-71758041 chr16:71757578-71757588 chr16:71757474-71757483 chr16:71757190-71757199 chr16:71758084-71758096 chr16:71757826-71757835 chr16:71757183-71757193
17	POLR2A	chr16:71756799-71758243	Hela-S3	cervix:	n/a	n/a
18	TBP	chr16:71757519-71758133	K562	blood:	n/a	n/a
19	POLR2A	chr16:71756716-71758390	H1-hESC	embryonic stem cell:	n/a	n/a
20	HDAC2	chr16:71757827-71758269	H1-hESC	embryonic stem cell:	n/a	n/a
21	MYC	chr16:71757887-71758235	MCF-7	breast:	n/a	chr16:71757985-71757994
22	RCOR1	chr16:71757903-71758056	HepG2	liver:	n/a	n/a
23	EP300	chr16:71757983-71758236	GM12878	blood:	n/a	n/a
24	POLR2A	chr16:71756800-71758261	GM12892	blood:	n/a	n/a
25	MAX	chr16:71757375-71758280	GM12878	blood:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
26	MYC	chr16:71758003-71758011	HepG2	liver:	n/a	n/a
27	POLR2A	chr16:71756992-71758114	HepG2	liver:	n/a	n/a
28	E2F4	chr16:71757638-71758296	MCF10A-Er-Src	breast:	n/a	chr16:71758032-71758041 chr16:71758084-71758096 chr16:71757826-71757835
29	POLR2A	chr16:71756651-71758136	Hela-S3	cervix:	n/a	n/a
30	RCOR1	chr16:71756459-71758468	IMR90	lung:	n/a	n/a
31	POLR2A	chr16:71756757-71758351	Hela-S3	cervix:	n/a	n/a
32	MAZ	chr16:71756566-71758423	IMR90	lung:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
33	POLR2A	chr16:71757901-71758088	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr16:71756859-71758154	A549	lung:	n/a	n/a
35	MAX	chr16:71757840-71758500	ECC-1	luminal epithelium:	n/a	chr16:71757985-71757994
36	MYC	chr16:71757881-71758155	MCF-7	breast:	n/a	chr16:71757985-71757994
37	CTCF	chr16:71757940-71758090	GM12871	blood:	n/a	n/a
38	GATA1	chr16:71756650-71758722	PBDE	blood:	n/a	chr16:71758249-71758265
39	E2F1	chr16:71756927-71758261	Hela-S3	cervix:	n/a	chr16:71757575-71757585 chr16:71757417-71757426 chr16:71758032-71758041 chr16:71757578-71757588 chr16:71757474-71757483 chr16:71757190-71757199 chr16:71758084-71758096 chr16:71757826-71757835 chr16:71757183-71757193
40	POLR2A	chr16:71756918-71758053	GM12878	blood:	n/a	n/a
41	SMC3	chr16:71757940-71758317	Hela-S3	cervix:	n/a	chr16:71758120-71758130
42	CTCF	chr16:71757622-71758177	GM12878	blood:	n/a	n/a
43	RFX5	chr16:71757645-71758341	Hela-S3	cervix:	n/a	n/a
44	MAX	chr16:71756582-71758511	A549	lung:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
45	EBF1	chr16:71757809-71758324	GM12878	blood:	n/a	n/a
46	MXI1	chr16:71757894-71758346	H1-hESC	embryonic stem cell:	n/a	n/a
47	HDAC2	chr16:71757754-71758387	MCF-7	breast:	n/a	n/a
48	E2F6	chr16:71757837-71758356	H1-hESC	embryonic stem cell:	n/a	chr16:71758032-71758041 chr16:71758084-71758096
49	MAX	chr16:71757810-71758288	A549	lung:	n/a	chr16:71757985-71757994
50	POLR2A	chr16:71756774-71758145	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71756712..71759795-chr16:71768156..71771579,4	MCF-7	breast:
2	chr16:71756383..71758703-chr16:71759355..71761226,2	MCF-7	breast:
3	chr16:71756102..71758936-chr16:71915033..71919382,3	MCF-7	breast:
4	chr16:71756273..71758753-chr16:71927656..71930818,3	MCF-7	breast:
5	chr16:71755537..71758357-chr16:71878950..71881033,2	K562	blood:
6	chr16:71697444..71699494-chr16:71756866..71759011,2	MCF-7	breast:
7	chr16:71756413..71761113-chr16:71764688..71769079,7	K562	blood:
8	chr16:71748955..71755873-chr16:71756069..71760101,14	MCF-7	breast:
9	chr16:71756422..71758416-chr16:71842004..71843953,2	MCF-7	breast:
10	chr16:71696881..71698945-chr16:71757287..71759170,2	MCF-7	breast:
11	chr16:71756649..71759449-chr16:71879809..71882216,3	MCF-7	breast:
12	chr16:71755635..71758602-chr16:71927230..71929480,2	MCF-7	breast:
13	chr16:71756251..71759040-chr16:71918074..71919809,2	K562	blood:
14	chr16:71658952..71666464-chr16:71755738..71760832,8	MCF-7	breast:
15	chr16:71755880..71759578-chr16:71759607..71764621,8	MCF-7	breast:
16	chr16:71756009..71758513-chr16:71878989..71881221,2	K562	blood:
17	chr16:71757196..71759664-chr16:71766555..71771218,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARVELD3-2	chr16:71757619-71758133	ENSG00000261513.1

Variant related genes	Relation type
ENSG00000260612	TF binding region
PHLPP2	TF binding region
ENSG00000260593	Chromatin interaction
ENSG00000140832	Chromatin interaction
ENSG00000261765	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000260612	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000182149	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS 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	89 gene(s)	inside rSNPs	diseases
4	esv1819402	chr16:71755852-71816899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	n/a
5	esv3326836	chr16:71756476-71759024	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
6	esv3524934	chr16:71756501-71759099	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
7	esv3524935	chr16:71756501-71759099	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
8	esv11117	chr16:71756826-71758273	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71755800-71758400	Active TSS	NHLF	lung
2	chr16:71756200-71758200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr16:71756200-71758200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr16:71756200-71758200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:71756200-71758200	Active TSS	Colonic Mucosa	Colon
6	chr16:71756200-71758200	Active TSS	A549	lung
7	chr16:71756200-71758200	Active TSS	HSMM	muscle
8	chr16:71756200-71758400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:71756200-71758400	Active TSS	Fetal Kidney	kidney
10	chr16:71756400-71758200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr16:71756400-71758200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr16:71756400-71758200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr16:71756400-71758200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:71756400-71758200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr16:71756400-71758200	Active TSS	Brain Germinal Matrix	brain
16	chr16:71756400-71758200	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr16:71756400-71758200	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr16:71756400-71758200	Active TSS	HSMMtube	muscle
19	chr16:71756400-71758200	Active TSS	NHDF-Ad	bronchial
20	chr16:71756400-71758400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr16:71756400-71758400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr16:71756400-71758400	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr16:71756600-71758200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:71756600-71758200	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr16:71756600-71758200	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr16:71756600-71758200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr16:71756600-71758200	Active TSS	Aorta	Aorta
28	chr16:71756600-71758200	Active TSS	Colon Smooth Muscle	Colon
29	chr16:71756600-71758200	Active TSS	Ovary	ovary
30	chr16:71756600-71758200	Active TSS	Right Ventricle	heart
31	chr16:71756600-71758200	Active TSS	Osteobl	bone
32	chr16:71756600-71758400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr16:71756600-71758400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr16:71756600-71758400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr16:71756600-71758400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr16:71756600-71758400	Active TSS	Left Ventricle	heart
37	chr16:71756600-71758400	Active TSS	Psoas Muscle	Psoas
38	chr16:71756800-71758200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr16:71756800-71758200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:71756800-71758200	Active TSS	Primary T cells from cord blood	blood
41	chr16:71756800-71758200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr16:71756800-71758200	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr16:71756800-71758200	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr16:71756800-71758200	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr16:71756800-71758200	Active TSS	Brain Angular Gyrus	brain
46	chr16:71756800-71758200	Active TSS	Brain Substantia Nigra	brain
47	chr16:71756800-71758200	Active TSS	Fetal Intestine Large	intestine
48	chr16:71756800-71758200	Active TSS	Fetal Intestine Small	intestine
49	chr16:71756800-71758200	Active TSS	Lung	lung
50	chr16:71756800-71758200	Active TSS	Placenta Amnion	Placenta Amnion

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