Variant report

Variant	rs571834718
Chromosome Location	chr16:71758273-71758274
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	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	CTBP2	chr16:71757654-71758377	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr16:71757747-71758408	H1-hESC	embryonic stem cell:	n/a	chr16:71757985-71757994
5	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
6	POLR2A	chr16:71756716-71758390	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr16:71758140-71758290	GM12878	blood:	n/a	n/a
8	CTCF	chr16:71758180-71758330	GM12873	blood:	n/a	n/a
9	MAX	chr16:71757375-71758280	GM12878	blood:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
10	E2F4	chr16:71757638-71758296	MCF10A-Er-Src	breast:	n/a	chr16:71758032-71758041 chr16:71758084-71758096 chr16:71757826-71757835
11	CHD2	chr16:71758096-71758289	HepG2	liver:	n/a	n/a
12	RCOR1	chr16:71756459-71758468	IMR90	lung:	n/a	n/a
13	POLR2A	chr16:71756757-71758351	Hela-S3	cervix:	n/a	n/a
14	MAZ	chr16:71756566-71758423	IMR90	lung:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
15	MAX	chr16:71757840-71758500	ECC-1	luminal epithelium:	n/a	chr16:71757985-71757994
16	CTCF	chr16:71758140-71758290	GM12864	blood:	n/a	n/a
17	GATA1	chr16:71756650-71758722	PBDE	blood:	n/a	chr16:71758249-71758265
18	SMC3	chr16:71757940-71758317	Hela-S3	cervix:	n/a	chr16:71758120-71758130
19	RFX5	chr16:71757645-71758341	Hela-S3	cervix:	n/a	n/a
20	MAX	chr16:71756582-71758511	A549	lung:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
21	EBF1	chr16:71757809-71758324	GM12878	blood:	n/a	n/a
22	MXI1	chr16:71757894-71758346	H1-hESC	embryonic stem cell:	n/a	n/a
23	HDAC2	chr16:71757754-71758387	MCF-7	breast:	n/a	n/a
24	E2F6	chr16:71757837-71758356	H1-hESC	embryonic stem cell:	n/a	chr16:71758032-71758041 chr16:71758084-71758096
25	MAX	chr16:71757810-71758288	A549	lung:	n/a	chr16:71757985-71757994
26	MAX	chr16:71756562-71758473	HepG2	liver:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
27	SIN3AK20	chr16:71757835-71758355	H1-hESC	embryonic stem cell:	n/a	n/a
28	PML	chr16:71757444-71758482	GM12878	blood:	n/a	n/a
29	ZEB1	chr16:71757877-71758367	GM12878	blood:	n/a	chr16:71758190-71758197
30	MAX	chr16:71758022-71758319	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr16:71757508-71758298	PBDE	blood:	n/a	n/a
32	MAX	chr16:71756628-71758357	Hela-S3	cervix:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
33	POLR2A	chr16:71756677-71758281	Raji	blood:	n/a	n/a
34	MAX	chr16:71757746-71758470	MCF-7	breast:	n/a	chr16:71757985-71757994
35	POLR2A	chr16:71757543-71758354	HepG2	liver:	n/a	n/a
36	POLR2A	chr16:71756810-71758303	GM18505	blood:	n/a	n/a
37	SIN3AK20	chr16:71756401-71758541	MCF-7	breast:	n/a	n/a
38	SIN3AK20	chr16:71757846-71758525	MCF-7	breast:	n/a	n/a
39	RCOR1	chr16:71757980-71758548	K562	blood:	n/a	n/a
40	MXI1	chr16:71756739-71758392	HepG2	liver:	n/a	n/a
41	SIN3AK20	chr16:71757905-71758325	H1-hESC	embryonic stem cell:	n/a	n/a
42	TCF12	chr16:71757853-71758290	GM12878	blood:	n/a	n/a
43	E2F6	chr16:71757884-71758417	H1-hESC	embryonic stem cell:	n/a	chr16:71758032-71758041 chr16:71758084-71758096
44	MAX	chr16:71756721-71758449	HepG2	liver:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
45	POLR2A	chr16:71756793-71758354	MCF-7	breast:	n/a	n/a
46	MAX	chr16:71756932-71758309	HepG2	liver:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
47	MAZ	chr16:71756595-71758403	K562	blood:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
48	MAX	chr16:71756783-71758466	ECC-1	luminal epithelium:	n/a	chr16:71757985-71757994 chr16:71757398-71757407
49	CTCF	chr16:71758160-71758310	WERI-Rb-1	eye:	n/a	n/a
50	MAX	chr16:71757739-71758366	H1-hESC	embryonic stem cell:	n/a	chr16:71757985-71757994

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:
18	chr16:71758014..71760790-chr16:71779924..71782486,2	K562	blood:

Variant related genes	Relation type
PHLPP2	TF binding region
ENSG00000260612	TF binding region
ENSG00000040199	Chromatin interaction
ENSG00000260593	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000260612	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000140832	Chromatin interaction
ENSG00000261765	Chromatin interaction
ENSG00000102984	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71755800-71758400	Active TSS	NHLF	lung
2	chr16:71756200-71758400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:71756200-71758400	Active TSS	Fetal Kidney	kidney
4	chr16:71756400-71758400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:71756400-71758400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr16:71756400-71758400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr16:71756600-71758400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:71756600-71758400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:71756600-71758400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:71756600-71758400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr16:71756600-71758400	Active TSS	Left Ventricle	heart
12	chr16:71756600-71758400	Active TSS	Psoas Muscle	Psoas
13	chr16:71756800-71758400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:71756800-71758400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr16:71757000-71758400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr16:71757000-71758400	Active TSS	K562	blood
17	chr16:71757000-71758600	Active TSS	Rectal Smooth Muscle	rectum
18	chr16:71757200-71758400	Active TSS	Esophagus	oesophagus
19	chr16:71757200-71758600	Active TSS	Thymus	Thymus
20	chr16:71757400-71758400	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr16:71758000-71758400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:71758000-71758400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:71758000-71758400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr16:71758000-71758400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
25	chr16:71758000-71758400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr16:71758000-71758400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr16:71758000-71758400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr16:71758000-71758400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr16:71758000-71758400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr16:71758000-71758400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr16:71758000-71758400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr16:71758000-71758400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr16:71758000-71758400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:71758000-71758400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr16:71758000-71758400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr16:71758000-71758400	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr16:71758000-71758400	Flanking Active TSS	Liver	Liver
38	chr16:71758000-71758400	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr16:71758000-71758400	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr16:71758000-71758400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr16:71758000-71758400	Flanking Active TSS	Fetal Brain Male	brain
42	chr16:71758000-71758400	Flanking Active TSS	Fetal Lung	lung
43	chr16:71758000-71758400	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr16:71758000-71758400	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr16:71758000-71758400	Flanking Active TSS	Placenta	Placenta
46	chr16:71758000-71758400	Flanking Active TSS	Fetal Stomach	stomach
47	chr16:71758000-71758400	Flanking Active TSS	Fetal Thymus	thymus
48	chr16:71758000-71758400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr16:71758000-71758400	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr16:71758000-71758400	Flanking Active TSS	HMEC	breast

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