Variant report

Variant	rs540584160
Chromosome Location	chr16:81070402-81070403
allele	G/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	MYBL2	chr16:81070183-81070687	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:81070325-81070533	Hela-S3	cervix:	n/a	n/a
3	RCOR1	chr16:81070268-81070425	K562	blood:	n/a	n/a
4	POLR2A	chr16:81070181-81070648	HepG2	liver:	n/a	n/a
5	MXI1	chr16:81069807-81070419	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr16:81068247-81070668	SK-N-SH	brain:	n/a	chr16:81069997-81070010 chr16:81069952-81069965 chr16:81069291-81069307 chr16:81069272-81069280
7	CEBPB	chr16:81069945-81070447	MCF-7	breast:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
8	POLR2A	chr16:81068857-81071180	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYC	chr16:81070200-81070796	MCF10A-Er-Src	breast:	n/a	n/a
10	HCFC1	chr16:81068860-81070884	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr16:81069096-81070711	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr16:81069248-81070708	Hela-S3	cervix:	n/a	n/a
13	ZNF384	chr16:81070062-81070604	K562	blood:	n/a	n/a
14	MAX	chr16:81069600-81070505	MCF-7	breast:	n/a	n/a
15	CEBPB	chr16:81069920-81070447	A549	lung:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
16	CEBPB	chr16:81070006-81070438	K562	blood:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
17	TEAD4	chr16:81070171-81071061	K562	blood:	n/a	n/a
18	CEBPB	chr16:81070008-81071044	K562	blood:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
19	MAX	chr16:81068982-81070527	HepG2	liver:	n/a	n/a
20	MXI1	chr16:81069146-81070581	IMR90	lung:	n/a	n/a
21	MAX	chr16:81069165-81070410	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr16:81069123-81070621	HepG2	liver:	n/a	n/a
23	SMC3	chr16:81068815-81070491	SK-N-SH	brain:	n/a	n/a
24	ESRRA	chr16:81068955-81070833	GM12878	blood:	n/a	n/a
25	MXI1	chr16:81068735-81071186	SK-N-SH	brain:	n/a	n/a
26	CEBPB	chr16:81069788-81070933	Hela-S3	cervix:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
27	REST	chr16:81068973-81070723	H1-neurons	neurons:	n/a	chr16:81069913-81069931 chr16:81069933-81069946
28	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	chr16:81068890..81071040-chr16:81770218..81773249,4	MCF-7	breast:
2	chr16:81038105..81044923-chr16:81066300..81070952,14	MCF-7	breast:
3	chr16:81067084..81072191-chr16:81106033..81112629,21	MCF-7	breast:
4	chr16:81068163..81070898-chr16:81108747..81112001,7	MCF-7	breast:
5	chr16:81061882..81066764-chr16:81067446..81071538,9	MCF-7	breast:
6	chr16:81067728..81071580-chr16:81109086..81113987,13	K562	blood:
7	chr16:81069395..81071569-chr16:81120451..81122846,2	K562	blood:
8	chr16:81066967..81071215-chr16:81128766..81132498,3	MCF-7	breast:
9	chr16:81068207..81071925-chr16:81073357..81079831,13	MCF-7	breast:
10	chr16:81056423..81058180-chr16:81069392..81072113,2	MCF-7	breast:
11	chr16:81052685..81055352-chr16:81069386..81070952,2	MCF-7	breast:
12	chr16:81037151..81044642-chr16:81065528..81070966,16	K562	blood:
13	chr16:81037151..81042784-chr16:81066438..81073797,14	K562	blood:
14	chr16:81051240..81053871-chr16:81067800..81070435,3	K562	blood:
15	chr16:81069108..81070906-chr16:81231938..81234335,3	MCF-7	breast:
16	chr16:81056962..81059865-chr16:81068197..81070898,3	K562	blood:
17	chr16:81037996..81043724-chr16:81066407..81071400,11	MCF-7	breast:
18	chr16:81068545..81070561-chr16:81128158..81130238,2	K562	blood:
19	chr16:81067878..81071089-chr16:81109086..81112093,6	K562	blood:
20	chr16:81068173..81071730-chr16:81126382..81131671,6	MCF-7	breast:
21	chr16:81067967..81070895-chr16:81477501..81479169,2	K562	blood:
22	chr16:81068545..81070466-chr16:81128738..81130368,2	K562	blood:

Variant related genes	Relation type
ENSG00000260213	TF binding region
ATMIN	TF binding region
ENSG00000261061	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000153815	Chromatin interaction
ENSG00000166473	Chromatin interaction
ENSG00000140905	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000245059	Chromatin interaction
ENSG00000261218	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000260643	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000197943	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
13	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
14	esv1820959	chr16:81069247-81070697	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81068800-81071200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr16:81069000-81070600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr16:81069000-81070600	Active TSS	Fetal Muscle Trunk	muscle
4	chr16:81069000-81070800	Active TSS	Psoas Muscle	Psoas
5	chr16:81069200-81070600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr16:81069200-81070600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr16:81069200-81070600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:81069200-81070600	Active TSS	Right Atrium	heart
9	chr16:81069200-81070600	Active TSS	HSMM	muscle
10	chr16:81069200-81070800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr16:81069200-81070800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:81069200-81071000	Active TSS	H1 Cell Line	embryonic stem cell
13	chr16:81069200-81071000	Active TSS	Colonic Mucosa	Colon
14	chr16:81069400-81070600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:81069400-81070600	Active TSS	Lung	lung
16	chr16:81069400-81070800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:81069400-81070800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:81069400-81070800	Active TSS	Left Ventricle	heart
19	chr16:81069400-81071000	Active TSS	Right Ventricle	heart
20	chr16:81069600-81070600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr16:81069600-81070600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:81069600-81070600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr16:81069600-81070600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr16:81069600-81070800	Active TSS	HSMMtube	muscle
25	chr16:81069600-81071000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr16:81069600-81071200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr16:81069800-81070600	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr16:81070000-81070600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr16:81070000-81070600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr16:81070000-81070600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr16:81070000-81070600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr16:81070000-81070600	Bivalent/Poised TSS	HepG2	liver
33	chr16:81070000-81070800	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr16:81070000-81070800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr16:81070000-81070800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr16:81070000-81070800	Flanking Active TSS	Fetal Thymus	thymus
37	chr16:81070000-81071000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr16:81070000-81071000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr16:81070000-81071200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr16:81070200-81070600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:81070200-81070600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr16:81070200-81070600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr16:81070200-81070600	Flanking Active TSS	Aorta	Aorta
44	chr16:81070200-81070600	Flanking Active TSS	Placenta	Placenta
45	chr16:81070200-81070600	Flanking Active TSS	Fetal Stomach	stomach
46	chr16:81070200-81070600	Flanking Active TSS	Thymus	Thymus
47	chr16:81070200-81070800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr16:81070200-81070800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:81070200-81070800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr16:81070200-81070800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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