Variant report

Variant	rs572802635
Chromosome Location	chr16:81068851-81068852
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	ZEB1	chr16:81068794-81069558	HepG2	liver:	n/a	chr16:81069123-81069130 chr16:81069280-81069289
2	ZEB1	chr16:81068846-81069514	HepG2	liver:	n/a	chr16:81069123-81069130 chr16:81069280-81069289
3	CTCF	chr16:81068247-81070668	SK-N-SH	brain:	n/a	chr16:81069997-81070010 chr16:81069952-81069965 chr16:81069291-81069307 chr16:81069272-81069280
4	MAZ	chr16:81068773-81070314	IMR90	lung:	n/a	n/a
5	CTCF	chr16:81068683-81069533	HCT-116	colon:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
6	SMC3	chr16:81068815-81070491	SK-N-SH	brain:	n/a	n/a
7	MXI1	chr16:81068735-81071186	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr16:81068604-81069509	HCT-116	colon:	n/a	chr16:81069291-81069307 chr16:81069272-81069280
9	CTCF	chr16:81068844-81070964	A549	lung:	n/a	chr16:81069997-81070010 chr16:81069952-81069965 chr16:81069291-81069307 chr16:81069272-81069280

No.	Distal block	Cell Line	Cell type
1	chr16:81038105..81044923-chr16:81066300..81070952,14	MCF-7	breast:
2	chr16:81067084..81072191-chr16:81106033..81112629,21	MCF-7	breast:
3	chr16:81068163..81070898-chr16:81108747..81112001,7	MCF-7	breast:
4	chr16:81061882..81066764-chr16:81067446..81071538,9	MCF-7	breast:
5	chr16:81067728..81071580-chr16:81109086..81113987,13	K562	blood:
6	chr16:81066967..81071215-chr16:81128766..81132498,3	MCF-7	breast:
7	chr16:81068207..81071925-chr16:81073357..81079831,13	MCF-7	breast:
8	chr16:81037151..81044642-chr16:81065528..81070966,16	K562	blood:
9	chr16:81037151..81042784-chr16:81066438..81073797,14	K562	blood:
10	chr16:81051240..81053871-chr16:81067800..81070435,3	K562	blood:
11	chr16:81056962..81059865-chr16:81068197..81070898,3	K562	blood:
12	chr16:81037996..81043724-chr16:81066407..81071400,11	MCF-7	breast:
13	chr16:81068545..81070561-chr16:81128158..81130238,2	K562	blood:
14	chr16:81067878..81071089-chr16:81109086..81112093,6	K562	blood:
15	chr16:81068173..81071730-chr16:81126382..81131671,6	MCF-7	breast:
16	chr16:81068843..81069464-chr16:81129450..81130206,2	MCF-7	breast:
17	chr16:81055761..81058462-chr16:81067542..81069697,2	K562	blood:
18	chr16:81067967..81070895-chr16:81477501..81479169,2	K562	blood:
19	chr16:81068545..81070466-chr16:81128738..81130368,2	K562	blood:

Variant related genes	Relation type
ATMIN	TF binding region
ENSG00000261061	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000140905	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000245059	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000153815	Chromatin interaction
ENSG00000103121	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
6	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	56 gene(s)	inside rSNPs	diseases
7	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription 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	49 gene(s)	inside rSNPs	diseases
9	nsv995083	chr16:81050917-81076406	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv1897	chr16:81060566-81105260	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	esv1802804	chr16:81061827-81070110	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	esv1838483	chr16:81061827-81070110	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	esv1841728	chr16:81061827-81070110	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	esv3374530	chr16:81068676-81071224	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81041800-81069000	Weak transcription	Ovary	ovary
2	chr16:81041800-81069000	Weak transcription	Small Intestine	intestine
3	chr16:81042000-81069000	Weak transcription	Esophagus	oesophagus
4	chr16:81042000-81069000	Weak transcription	Pancreas	Pancrea
5	chr16:81042000-81069600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr16:81042200-81069000	Weak transcription	Colonic Mucosa	Colon
7	chr16:81042200-81069600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:81042400-81069000	Weak transcription	Brain Germinal Matrix	brain
9	chr16:81042400-81069000	Weak transcription	Fetal Heart	heart
10	chr16:81047800-81069000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr16:81048400-81069000	Weak transcription	Fetal Kidney	kidney
12	chr16:81048600-81069000	Weak transcription	Fetal Brain Female	brain
13	chr16:81049000-81069000	Weak transcription	Right Ventricle	heart
14	chr16:81050200-81069000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr16:81050600-81069000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr16:81053000-81069400	Weak transcription	Aorta	Aorta
17	chr16:81053600-81069000	Weak transcription	Brain Anterior Caudate	brain
18	chr16:81054200-81069000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr16:81055200-81069400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:81055200-81069600	Weak transcription	Spleen	Spleen
21	chr16:81055400-81069000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr16:81055400-81069200	Weak transcription	NHLF	lung
23	chr16:81055600-81069000	Weak transcription	Lung	lung
24	chr16:81055600-81069400	Weak transcription	Gastric	stomach
25	chr16:81055600-81069600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr16:81055800-81069000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr16:81055800-81069400	Weak transcription	Left Ventricle	heart
28	chr16:81055800-81069600	Weak transcription	HSMMtube	muscle
29	chr16:81056200-81069600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr16:81057000-81069000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr16:81057000-81069000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr16:81057000-81069600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr16:81057200-81069000	Weak transcription	Primary B cells from cord blood	blood
34	chr16:81057600-81069400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:81057800-81069400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr16:81058200-81069000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr16:81061000-81069400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr16:81061200-81069000	Weak transcription	Fetal Lung	lung
39	chr16:81061600-81069000	Weak transcription	Fetal Muscle Leg	muscle
40	chr16:81062200-81069200	Weak transcription	HSMM	muscle
41	chr16:81062600-81069000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr16:81062600-81069000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr16:81062600-81069000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:81062600-81069000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr16:81062600-81069000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr16:81062600-81069000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:81062600-81069000	Weak transcription	Adipose Nuclei	Adipose
48	chr16:81062600-81069000	Weak transcription	HepG2	liver
49	chr16:81062600-81069000	Weak transcription	NHEK	skin
50	chr16:81062600-81069600	Weak transcription	Primary T cells from cord blood	blood

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