Variant report

Variant	rs568177575
Chromosome Location	chr16:71757020-71757021
allele	A/G
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	MAZ	chr16:71756616-71758293	GM12878	blood:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
2	CEBPB	chr16:71756773-71757226	HepG2	liver:	n/a	chr16:71756939-71756950
3	POLR2A	chr16:71756660-71757342	U87	brain:	n/a	n/a
4	TAF1	chr16:71756752-71758033	ECC-1	luminal epithelium:	n/a	n/a
5	MYC	chr16:71756771-71757119	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr16:71756829-71758129	ProgFib	skin:	n/a	n/a
7	MAZ	chr16:71756790-71757199	HepG2	liver:	n/a	n/a
8	TAF1	chr16:71756754-71758163	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3AK20	chr16:71756693-71757066	A549	lung:	n/a	n/a
10	POLR2A	chr16:71756738-71757293	SK-N-MC	brain:	n/a	n/a
11	ZKSCAN1	chr16:71756942-71757326	Hela-S3	cervix:	n/a	n/a
12	PBX3	chr16:71756859-71757392	A549	lung:	n/a	n/a
13	POLR2A	chr16:71756749-71758263	H1-neurons	neurons:	n/a	n/a
14	HEY1	chr16:71756896-71757348	HepG2	liver:	n/a	chr16:71757326-71757341 chr16:71756982-71756997
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	BCL3	chr16:71756646-71757162	A549	lung:	n/a	n/a
18	SIN3AK20	chr16:71756737-71757282	HepG2	liver:	n/a	n/a
19	BRCA1	chr16:71756908-71757108	HepG2	liver:	n/a	n/a
20	POLR2A	chr16:71756716-71758390	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr16:71756878-71757340	HepG2	liver:	n/a	n/a
22	MAX	chr16:71756957-71757113	K562	blood:	n/a	n/a
23	SP1	chr16:71756771-71757360	A549	lung:	n/a	chr16:71756899-71756909 chr16:71757005-71757012 chr16:71757019-71757031 chr16:71757020-71757034
24	SP1	chr16:71756620-71757389	A549	lung:	n/a	chr16:71756899-71756909 chr16:71757005-71757012 chr16:71757019-71757031 chr16:71757020-71757034
25	FOXM1	chr16:71756552-71757077	GM12878	blood:	n/a	n/a
26	TAF1	chr16:71756885-71757281	A549	lung:	n/a	n/a
27	ZNF143	chr16:71756852-71757289	Hela-S3	cervix:	n/a	chr16:71757183-71757193
28	RCOR1	chr16:71756786-71757293	HepG2	liver:	n/a	n/a
29	TCF12	chr16:71756783-71757429	ECC-1	luminal epithelium:	n/a	n/a
30	MYC	chr16:71756946-71757319	MCF-7	breast:	n/a	n/a
31	POLR2A	chr16:71756800-71758261	GM12892	blood:	n/a	n/a
32	TEAD4	chr16:71756463-71757099	HepG2	liver:	n/a	n/a
33	EP300	chr16:71756784-71757131	HepG2	liver:	n/a	chr16:71756985-71757001 chr16:71756897-71756910 chr16:71756984-71757000
34	NFIC	chr16:71756569-71757104	HepG2	liver:	n/a	n/a
35	YY1	chr16:71756876-71757129	H1-hESC	embryonic stem cell:	n/a	chr16:71756981-71756995
36	POLR2A	chr16:71756946-71757334	A549	lung:	n/a	n/a
37	CEBPB	chr16:71756647-71757308	A549	lung:	n/a	chr16:71756939-71756950
38	CTBP2	chr16:71756759-71757345	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr16:71756992-71758114	HepG2	liver:	n/a	n/a
40	POLR2A	chr16:71756651-71758136	Hela-S3	cervix:	n/a	n/a
41	RCOR1	chr16:71756459-71758468	IMR90	lung:	n/a	n/a
42	MYC	chr16:71756985-71757034	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr16:71756757-71758351	Hela-S3	cervix:	n/a	n/a
44	MYBL2	chr16:71756683-71757316	HepG2	liver:	n/a	n/a
45	MAZ	chr16:71756566-71758423	IMR90	lung:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
46	POLR2A	chr16:71756859-71758154	A549	lung:	n/a	n/a
47	MYBL2	chr16:71756645-71757159	HepG2	liver:	n/a	n/a
48	EP300	chr16:71756934-71757305	T-47D	breast:	n/a	chr16:71757184-71757193 chr16:71756985-71757001 chr16:71756984-71757000
49	JUND	chr16:71756842-71757435	A549	lung:	n/a	chr16:71757413-71757422
50	POLR2A	chr16:71756932-71757275	U87	brain:	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	chr16:71756649..71759449-chr16:71879809..71882216,3	MCF-7	breast:
11	chr16:71755635..71758602-chr16:71927230..71929480,2	MCF-7	breast:
12	chr16:71756251..71759040-chr16:71918074..71919809,2	K562	blood:
13	chr16:71658952..71666464-chr16:71755738..71760832,8	MCF-7	breast:
14	chr1:11967125..11969776-chr16:71755847..71757507,2	MCF-7	breast:
15	chr16:71755880..71759578-chr16:71759607..71764621,8	MCF-7	breast:
16	chr16:71756009..71758513-chr16:71878989..71881221,2	K562	blood:

Variant related genes	Relation type
ENSG00000260612	TF binding region
ENSG00000261513	TF binding region
ENSG00000224470	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000140832	Chromatin interaction
ENSG00000260612	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000261765	Chromatin interaction
ENSG00000260593	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000102984	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	chr16:71756400-71757200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr16:71756400-71757200	Flanking Active TSS	Dnd41	blood
16	chr16:71756400-71757200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
17	chr16:71756400-71757400	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr16:71756400-71757400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr16:71756400-71757400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:71756400-71758000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr16:71756400-71758000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr16:71756400-71758000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:71756400-71758000	Active TSS	Placenta	Placenta
24	chr16:71756400-71758200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr16:71756400-71758200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr16:71756400-71758200	Active TSS	H1 Cell Line	embryonic stem cell
27	chr16:71756400-71758200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:71756400-71758200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr16:71756400-71758200	Active TSS	Brain Germinal Matrix	brain
30	chr16:71756400-71758200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr16:71756400-71758200	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr16:71756400-71758200	Active TSS	HSMMtube	muscle
33	chr16:71756400-71758200	Active TSS	NHDF-Ad	bronchial
34	chr16:71756400-71758400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr16:71756400-71758400	Active TSS	H9 Cell Line	embryonic stem cell
36	chr16:71756400-71758400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr16:71756600-71757200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr16:71756600-71757200	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr16:71756600-71757200	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr16:71756600-71757200	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr16:71756600-71757200	Flanking Active TSS	Thymus	Thymus
42	chr16:71756600-71757600	Active TSS	Right Atrium	heart
43	chr16:71756600-71758000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr16:71756600-71758000	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr16:71756600-71758000	Active TSS	Primary T cells fromperipheralblood	blood
46	chr16:71756600-71758000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr16:71756600-71758000	Active TSS	Muscle Satellite Cultured Cells	--
48	chr16:71756600-71758000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr16:71756600-71758000	Active TSS	Fetal Muscle Leg	muscle
50	chr16:71756600-71758000	Active TSS	HMEC	breast

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