Variant report

Variant	rs138819717
Chromosome Location	chr16:81477186-81477187
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	CBX3	chr16:81477160-81477504	K562	blood:	n/a	n/a
2	MAX	chr16:81477166-81477512	K562	blood:	n/a	chr16:81477368-81477379 chr16:81477369-81477378 chr16:81477370-81477377 chr16:81477368-81477378
3	CTCF	chr16:81477080-81477230	GM12878	blood:	n/a	n/a
4	MAX	chr16:81476981-81479502	A549	lung:	n/a	chr16:81477368-81477379 chr16:81477369-81477378 chr16:81477370-81477377 chr16:81477368-81477378
5	TEAD4	chr16:81476991-81477953	K562	blood:	n/a	n/a
6	ZNF263	chr16:81476180-81477673	HEK293-T-REx	kidney:	n/a	n/a
7	E2F6	chr16:81477170-81477478	K562	blood:	n/a	n/a
8	REST	chr16:81477084-81480682	H1-neurons	neurons:	n/a	chr16:81480227-81480240 chr16:81479176-81479189 chr16:81477962-81477972 chr16:81477178-81477186 chr16:81477893-81477906 chr16:81478810-81478823 chr16:81479250-81479263 chr16:81480623-81480636
9	MAX	chr16:81477123-81479385	HepG2	liver:	n/a	chr16:81477368-81477379 chr16:81477369-81477378 chr16:81477370-81477377 chr16:81477368-81477378
10	ZNF263	chr16:81476953-81477531	K562	blood:	n/a	n/a
11	MAX	chr16:81476959-81478111	K562	blood:	n/a	chr16:81477368-81477379 chr16:81477369-81477378 chr16:81477370-81477377 chr16:81477368-81477378
12	MYC	chr16:81477177-81477646	K562	blood:	n/a	chr16:81477368-81477379 chr16:81477369-81477378 chr16:81477370-81477377 chr16:81477368-81477378
13	POLR2A	chr16:81477051-81477648	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81476563..81478400-chr16:81499399..81501663,2	MCF-7	breast:
2	chr16:81476183..81478436-chr16:81605516..81607162,2	K562	blood:
3	chr16:81475472..81478406-chr16:81671837..81673759,2	MCF-7	breast:
4	chr16:81475858..81478568-chr16:81729319..81732099,2	K562	blood:
5	chr16:81477150..81481169-chr16:81642368..81644770,3	MCF-7	breast:
6	chr16:81476956..81478649-chr16:81496180..81498094,2	MCF-7	breast:
7	chr16:81476822..81479616-chr16:81528551..81531319,2	MCF-7	breast:

Variant related genes	Relation type
CMIP	TF binding region
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
4	esv34108	chr16:81469090-81510471	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	esv3357337	chr16:81476876-81479424	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	esv3364489	chr16:81476951-81480349	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81474000-81477200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr16:81474000-81477400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr16:81474400-81477600	Weak transcription	Right Atrium	heart
4	chr16:81474800-81477600	Weak transcription	Fetal Lung	lung
5	chr16:81474800-81477600	Weak transcription	Spleen	Spleen
6	chr16:81475000-81477400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:81475200-81477200	Weak transcription	NHEK	skin
8	chr16:81475200-81477400	Weak transcription	Ovary	ovary
9	chr16:81475200-81477600	Weak transcription	Esophagus	oesophagus
10	chr16:81475400-81477400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:81475600-81477400	Enhancers	HSMMtube	muscle
12	chr16:81475800-81477400	Weak transcription	Fetal Brain Female	brain
13	chr16:81475800-81477600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr16:81476000-81477600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr16:81476000-81477800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr16:81476000-81478000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr16:81476000-81478000	Enhancers	Stomach Mucosa	stomach
18	chr16:81476200-81477600	Enhancers	Primary hematopoietic stem cells	blood
19	chr16:81476200-81477600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr16:81476200-81477600	Enhancers	Brain Substantia Nigra	brain
21	chr16:81476200-81477600	Enhancers	Duodenum Mucosa	Duodenum
22	chr16:81476400-81477200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:81476400-81477200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr16:81476400-81477400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr16:81476400-81477600	Enhancers	Primary B cells from peripheral blood	blood
26	chr16:81476400-81477600	Enhancers	Colonic Mucosa	Colon
27	chr16:81476400-81477600	Enhancers	Fetal Intestine Large	intestine
28	chr16:81476400-81477800	Flanking Active TSS	A549	lung
29	chr16:81476600-81477600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr16:81476600-81477600	Enhancers	Fetal Thymus	thymus
31	chr16:81476600-81478000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr16:81476800-81477200	Weak transcription	Colon Smooth Muscle	Colon
33	chr16:81476800-81477600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr16:81476800-81477600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:81476800-81477600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr16:81476800-81477600	Enhancers	Fetal Intestine Small	intestine
37	chr16:81476800-81477600	Enhancers	Placenta	Placenta
38	chr16:81476800-81477600	Weak transcription	Thymus	Thymus
39	chr16:81476800-81477600	Enhancers	GM12878-XiMat	blood
40	chr16:81476800-81477800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr16:81477000-81477200	Enhancers	Stomach Smooth Muscle	stomach
42	chr16:81477000-81477200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
43	chr16:81477000-81477400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr16:81477000-81477400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr16:81477000-81477400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
46	chr16:81477000-81477400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr16:81477000-81477400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr16:81477000-81477400	Flanking Bivalent TSS/Enh	HepG2	liver
49	chr16:81477000-81477600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr16:81477000-81477600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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