Variant report

Variant	rs191067381
Chromosome Location	chr16:81477662-81477663
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	ZBTB7A	chr16:81477526-81478391	ECC-1	luminal epithelium:	n/a	n/a
2	MTA3	chr16:81477419-81477845	GM12878	blood:	n/a	n/a
3	ZBTB7A	chr16:81477499-81479563	K562	blood:	n/a	n/a
4	CREB1	chr16:81477623-81478545	H1-hESC	embryonic stem cell:	n/a	n/a
5	NR3C1	chr16:81477626-81478811	A549	lung:	n/a	chr16:81477958-81477971 chr16:81477805-81477818
6	POLR2A	chr16:81477367-81478529	HepG2	liver:	n/a	n/a
7	MAZ	chr16:81477499-81480759	IMR90	lung:	n/a	chr16:81480230-81480240
8	POLR2A	chr16:81477195-81480546	IMR90	lung:	n/a	n/a
9	CTCF	chr16:81477660-81477810	GM12878	blood:	n/a	n/a
10	ZBTB7A	chr16:81477628-81478345	K562	blood:	n/a	n/a
11	CREB1	chr16:81477472-81479349	HepG2	liver:	n/a	n/a
12	MAX	chr16:81476981-81479502	A549	lung:	n/a	chr16:81477368-81477379 chr16:81477369-81477378 chr16:81477370-81477377 chr16:81477368-81477378
13	TEAD4	chr16:81476991-81477953	K562	blood:	n/a	n/a
14	ZNF263	chr16:81476180-81477673	HEK293-T-REx	kidney:	n/a	n/a
15	NR2F2	chr16:81477338-81477958	K562	blood:	n/a	n/a
16	TCF12	chr16:81477303-81478079	A549	lung:	n/a	n/a
17	SP1	chr16:81477558-81478435	A549	lung:	n/a	chr16:81477959-81477968 chr16:81477690-81477704 chr16:81477967-81477980
18	E2F6	chr16:81477219-81478768	K562	blood:	n/a	chr16:81478316-81478325 chr16:81478222-81478231 chr16:81477961-81477971
19	ZBTB7A	chr16:81477361-81478498	ECC-1	luminal epithelium:	n/a	n/a
20	EGR1	chr16:81477598-81478257	MCF-7	breast:	n/a	chr16:81477961-81477974 chr16:81478183-81478197
21	HDAC2	chr16:81477464-81478766	HepG2	liver:	n/a	n/a
22	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
23	MAX	chr16:81477123-81479385	HepG2	liver:	n/a	chr16:81477368-81477379 chr16:81477369-81477378 chr16:81477370-81477377 chr16:81477368-81477378
24	POLR2A	chr16:81477382-81477681	MCF10A-Er-Src	breast:	n/a	n/a
25	HCFC1	chr16:81477588-81477764	K562	blood:	n/a	n/a
26	MYBL2	chr16:81477557-81478044	HepG2	liver:	n/a	n/a
27	MAX	chr16:81476959-81478111	K562	blood:	n/a	chr16:81477368-81477379 chr16:81477369-81477378 chr16:81477370-81477377 chr16:81477368-81477378

No.	Distal block	Cell Line	Cell type
1	chr1:153939722..153940249-chr16:81477656..81478327,2	Hela-S3	cervix:
2	chr16:81477412..81480094-chr16:81509013..81511595,4	MCF-7	breast:
3	chr16:81476563..81478400-chr16:81499399..81501663,2	MCF-7	breast:
4	chr16:81067967..81070895-chr16:81477501..81479169,2	K562	blood:
5	chr16:81476183..81478436-chr16:81605516..81607162,2	K562	blood:
6	chr16:81475472..81478406-chr16:81671837..81673759,2	MCF-7	breast:
7	chr16:81475858..81478568-chr16:81729319..81732099,2	K562	blood:
8	chr16:81477150..81481169-chr16:81642368..81644770,3	MCF-7	breast:
9	chr16:81476956..81478649-chr16:81496180..81498094,2	MCF-7	breast:
10	chr16:81476822..81479616-chr16:81528551..81531319,2	MCF-7	breast:

Variant related genes	Relation type
CMIP	TF binding region
ENSG00000143570	Chromatin interaction
ENSG00000260229	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000153815	Chromatin interaction
ENSG00000166454	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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
7	esv3333736	chr16:81477276-81479824	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	esv3435927	chr16:81477351-81480049	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv3402692	chr16:81477376-81480074	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81476000-81477800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr16:81476000-81478000	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr16:81476000-81478000	Enhancers	Stomach Mucosa	stomach
4	chr16:81476400-81477800	Flanking Active TSS	A549	lung
5	chr16:81476600-81478000	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr16:81476800-81477800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr16:81477000-81477800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr16:81477200-81477800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr16:81477200-81477800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
10	chr16:81477200-81478000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:81477200-81478000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr16:81477200-81478000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr16:81477200-81478000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:81477200-81478000	Enhancers	NHEK	skin
15	chr16:81477400-81477800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:81477400-81477800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr16:81477400-81477800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:81477400-81477800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:81477400-81477800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:81477400-81477800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr16:81477400-81477800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:81477400-81477800	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr16:81477400-81477800	Flanking Active TSS	Fetal Brain Female	brain
24	chr16:81477400-81477800	Enhancers	Lung	lung
25	chr16:81477400-81477800	Enhancers	Ovary	ovary
26	chr16:81477400-81477800	Enhancers	Pancreas	Pancrea
27	chr16:81477400-81477800	Weak transcription	HSMMtube	muscle
28	chr16:81477400-81478000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
29	chr16:81477400-81478000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr16:81477400-81478000	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr16:81477400-81478000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr16:81477400-81478000	Active TSS	Brain Hippocampus Middle	brain
33	chr16:81477400-81478000	Enhancers	Fetal Brain Male	brain
34	chr16:81477400-81478000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr16:81477400-81478000	Flanking Active TSS	HepG2	liver
36	chr16:81477400-81478000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr16:81477400-81480000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr16:81477400-81481000	Active TSS	H9 Cell Line	embryonic stem cell
39	chr16:81477600-81477800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
40	chr16:81477600-81477800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr16:81477600-81477800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr16:81477600-81477800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr16:81477600-81477800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:81477600-81477800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr16:81477600-81477800	Enhancers	Primary B cells from cord blood	blood
46	chr16:81477600-81477800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr16:81477600-81477800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
48	chr16:81477600-81477800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:81477600-81477800	Active TSS	Brain Germinal Matrix	brain
50	chr16:81477600-81477800	Flanking Active TSS	Brain Substantia Nigra	brain

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