Variant report

Variant	rs372656363
Chromosome Location	chr16:71757620-71757621
allele	-/CCGCTTGCCCGCTCGC
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	POLR2A	chr16:71757516-71757828	HepG2	liver:	n/a	n/a
2	MAX	chr16:71757566-71758455	MCF-7	breast:	n/a	chr16:71757985-71757994
3	MAZ	chr16:71756616-71758293	GM12878	blood:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
4	TAF1	chr16:71756752-71758033	ECC-1	luminal epithelium:	n/a	n/a
5	EGR1	chr16:71757184-71757805	K562	blood:	n/a	chr16:71757575-71757584 chr16:71757575-71757585 chr16:71757572-71757585 chr16:71757474-71757484 chr16:71757572-71757585 chr16:71757572-71757585
6	POLR2A	chr16:71757598-71757819	HepG2	liver:	n/a	n/a
7	MAZ	chr16:71757461-71758041	HepG2	liver:	n/a	chr16:71757985-71757994
8	POLR2A	chr16:71756829-71758129	ProgFib	skin:	n/a	n/a
9	MYC	chr16:71757557-71758267	K562	blood:	n/a	chr16:71757985-71757994
10	TAF1	chr16:71756754-71758163	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr16:71757552-71757889	SK-N-SH	brain:	n/a	n/a
12	EGR1	chr16:71757265-71757773	GM12878	blood:	n/a	chr16:71757575-71757584 chr16:71757575-71757585 chr16:71757572-71757585 chr16:71757474-71757484 chr16:71757572-71757585 chr16:71757572-71757585
13	ETS1	chr16:71757536-71758151	K562	blood:	n/a	chr16:71757572-71757583
14	POLR2A	chr16:71756749-71758263	H1-neurons	neurons:	n/a	n/a
15	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
16	POLR2A	chr16:71756799-71758243	Hela-S3	cervix:	n/a	n/a
17	TBP	chr16:71757519-71758133	K562	blood:	n/a	n/a
18	POLR2A	chr16:71756716-71758390	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr16:71756800-71758261	GM12892	blood:	n/a	n/a
20	MAX	chr16:71757375-71758280	GM12878	blood:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
21	PML	chr16:71757544-71757834	K562	blood:	n/a	n/a
22	POLR2A	chr16:71756992-71758114	HepG2	liver:	n/a	n/a
23	POLR2A	chr16:71756651-71758136	Hela-S3	cervix:	n/a	n/a
24	RCOR1	chr16:71756459-71758468	IMR90	lung:	n/a	n/a
25	POLR2A	chr16:71756757-71758351	Hela-S3	cervix:	n/a	n/a
26	MAZ	chr16:71756566-71758423	IMR90	lung:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
27	POLR2A	chr16:71757602-71757916	K562	blood:	n/a	n/a
28	POLR2A	chr16:71756859-71758154	A549	lung:	n/a	n/a
29	JUND	chr16:71757389-71757770	K562	blood:	n/a	chr16:71757413-71757422 chr16:71757570-71757579
30	POLR2A	chr16:71757401-71757875	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr16:71757532-71757931	U87	brain:	n/a	n/a
32	EP300	chr16:71757534-71757667	HepG2	liver:	n/a	chr16:71757543-71757552 chr16:71757540-71757549
33	GATA1	chr16:71756650-71758722	PBDE	blood:	n/a	chr16:71758249-71758265
34	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
35	POLR2A	chr16:71756918-71758053	GM12878	blood:	n/a	n/a
36	CTCF	chr16:71757600-71757750	GM12867	blood:	n/a	n/a
37	MAX	chr16:71756582-71758511	A549	lung:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
38	POLR2A	chr16:71757519-71757829	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr16:71757479-71757849	SK-N-MC	brain:	n/a	n/a
40	TAF1	chr16:71757406-71757952	GM12878	blood:	n/a	n/a
41	TAF1	chr16:71757500-71757970	K562	blood:	n/a	n/a
42	YY1	chr16:71757143-71757852	GM12878	blood:	n/a	chr16:71757537-71757551 chr16:71757581-71757592 chr16:71757574-71757588 chr16:71757574-71757583 chr16:71757199-71757219 chr16:71757572-71757583 chr16:71757568-71757582
43	POLR2A	chr16:71756774-71758145	GM12878	blood:	n/a	n/a
44	POLR2A	chr16:71756840-71758219	GM19193	blood:	n/a	n/a
45	MAX	chr16:71756562-71758473	HepG2	liver:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
46	POLR2A	chr16:71757547-71758062	A549	lung:	n/a	n/a
47	TFAP2C	chr16:71756605-71758168	Hela-S3	cervix:	n/a	chr16:71757129-71757144
48	POLR2A	chr16:71756952-71758132	GM15510	blood:	n/a	n/a
49	JUND	chr16:71757518-71757986	A549	lung:	n/a	chr16:71757570-71757579
50	PML	chr16:71757444-71758482	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	chr1:6844657..6845258-chr16:71757161..71757923,2	Hela-S3	cervix:
4	chr16:71756102..71758936-chr16:71915033..71919382,3	MCF-7	breast:
5	chr16:71756273..71758753-chr16:71927656..71930818,3	MCF-7	breast:
6	chr16:71755537..71758357-chr16:71878950..71881033,2	K562	blood:
7	chr16:71697444..71699494-chr16:71756866..71759011,2	MCF-7	breast:
8	chr16:71756413..71761113-chr16:71764688..71769079,7	K562	blood:
9	chr16:71748955..71755873-chr16:71756069..71760101,14	MCF-7	breast:
10	chr16:71756422..71758416-chr16:71842004..71843953,2	MCF-7	breast:
11	chr16:71696881..71698945-chr16:71757287..71759170,2	MCF-7	breast:
12	chr16:71756649..71759449-chr16:71879809..71882216,3	MCF-7	breast:
13	chr16:71755635..71758602-chr16:71927230..71929480,2	MCF-7	breast:
14	chr16:71756251..71759040-chr16:71918074..71919809,2	K562	blood:
15	chr16:71658952..71666464-chr16:71755738..71760832,8	MCF-7	breast:
16	chr16:71755880..71759578-chr16:71759607..71764621,8	MCF-7	breast:
17	chr16:71756009..71758513-chr16:71878989..71881221,2	K562	blood:
18	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
ENSG00000224470	Chromatin interaction
ENSG00000260612	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000261765	Chromatin interaction
ENSG00000237436	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000140832	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000260593	Chromatin interaction
ENSG00000166747	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	chr16:71755600-71758000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr16:71755800-71758400	Active TSS	NHLF	lung
3	chr16:71756200-71758000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr16:71756200-71758000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr16:71756200-71758000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:71756200-71758200	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr16:71756200-71758200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr16:71756200-71758200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:71756200-71758200	Active TSS	Colonic Mucosa	Colon
10	chr16:71756200-71758200	Active TSS	A549	lung
11	chr16:71756200-71758200	Active TSS	HSMM	muscle
12	chr16:71756200-71758400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:71756200-71758400	Active TSS	Fetal Kidney	kidney
14	chr16:71756400-71758000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:71756400-71758000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:71756400-71758000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr16:71756400-71758000	Active TSS	Placenta	Placenta
18	chr16:71756400-71758200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr16:71756400-71758200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr16:71756400-71758200	Active TSS	H1 Cell Line	embryonic stem cell
21	chr16:71756400-71758200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:71756400-71758200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:71756400-71758200	Active TSS	Brain Germinal Matrix	brain
24	chr16:71756400-71758200	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr16:71756400-71758200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr16:71756400-71758200	Active TSS	HSMMtube	muscle
27	chr16:71756400-71758200	Active TSS	NHDF-Ad	bronchial
28	chr16:71756400-71758400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr16:71756400-71758400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr16:71756400-71758400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr16:71756600-71758000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr16:71756600-71758000	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr16:71756600-71758000	Active TSS	Primary T cells fromperipheralblood	blood
34	chr16:71756600-71758000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:71756600-71758000	Active TSS	Muscle Satellite Cultured Cells	--
36	chr16:71756600-71758000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:71756600-71758000	Active TSS	Fetal Muscle Leg	muscle
38	chr16:71756600-71758000	Active TSS	HMEC	breast
39	chr16:71756600-71758200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:71756600-71758200	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr16:71756600-71758200	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr16:71756600-71758200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr16:71756600-71758200	Active TSS	Aorta	Aorta
44	chr16:71756600-71758200	Active TSS	Colon Smooth Muscle	Colon
45	chr16:71756600-71758200	Active TSS	Ovary	ovary
46	chr16:71756600-71758200	Active TSS	Right Ventricle	heart
47	chr16:71756600-71758200	Active TSS	Osteobl	bone
48	chr16:71756600-71758400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:71756600-71758400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr16:71756600-71758400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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