Variant report

Variant	rs145181184
Chromosome Location	chr16:70286146-70286147
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:251)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TRIM28	chr16:70285545-70286216	K562	blood:	n/a	chr16:70286028-70286036
2	POLR2A	chr16:70285528-70286229	H1-neurons	neurons:	n/a	n/a
3	CHD1	chr16:70284609-70286363	IMR90	lung:	n/a	n/a
4	PML	chr16:70285539-70286234	MCF-7	breast:	n/a	chr16:70286028-70286036
5	YY1	chr16:70285577-70286156	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr16:70284719-70286585	HL-60	blood:	n/a	n/a
7	GTF2F1	chr16:70285680-70286790	Hela-S3	cervix:	n/a	n/a
8	UBTF	chr16:70284737-70286795	K562	blood:	n/a	n/a
9	POLR2A	chr16:70284547-70286177	H1-hESC	embryonic stem cell:	n/a	n/a
10	KAP1	chr16:70285610-70286878	HEK293	kidney:	n/a	chr16:70286028-70286036
11	POLR2A	chr16:70285129-70286156	ECC-1	luminal epithelium:	n/a	n/a
12	PBX3	chr16:70285503-70286243	A549	lung:	n/a	n/a
13	EP300	chr16:70285395-70286361	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr16:70284594-70286177	GM12878	blood:	n/a	n/a
15	CEBPB	chr16:70285616-70286218	GM12878	blood:	n/a	n/a
16	MAX	chr16:70284710-70286335	HepG2	liver:	n/a	n/a
17	ELF1	chr16:70285565-70286150	SK-N-SH	brain:	n/a	n/a
18	GABPA	chr16:70285454-70286198	MCF-7	breast:	n/a	n/a
19	REST	chr16:70284832-70286384	H1-neurons	neurons:	n/a	chr16:70286002-70286015
20	ATF2	chr16:70285560-70286287	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAFK	chr16:70285812-70286483	K562	blood:	n/a	n/a
22	IRF1	chr16:70285675-70286239	K562	blood:	n/a	n/a
23	YY1	chr16:70285510-70286151	SK-N-SH_RA	brain:	n/a	n/a
24	NFIC	chr16:70285567-70286213	ECC-1	luminal epithelium:	n/a	n/a
25	BCLAF1	chr16:70285593-70286227	K562	blood:	n/a	chr16:70285921-70285929
26	HDAC2	chr16:70285619-70286181	MCF-7	breast:	n/a	n/a
27	TEAD4	chr16:70285535-70286247	HepG2	liver:	n/a	n/a
28	POLR2A	chr16:70284712-70286219	PANC-1	pancreas:	n/a	n/a
29	ZNF143	chr16:70285669-70286146	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr16:70284903-70286162	GM15510	blood:	n/a	n/a
31	ATF2	chr16:70285539-70286157	GM12878	blood:	n/a	n/a
32	POLR2A	chr16:70284783-70289133	Hela-S3	cervix:	n/a	n/a
33	MYBL2	chr16:70285401-70286289	HepG2	liver:	n/a	n/a
34	CREB1	chr16:70284855-70286340	HepG2	liver:	n/a	n/a
35	EP300	chr16:70285591-70286234	A549	lung:	n/a	n/a
36	CHD2	chr16:70285285-70286168	Hela-S3	cervix:	n/a	n/a
37	STAT5A	chr16:70285458-70286205	GM12878	blood:	n/a	n/a
38	E2F4	chr16:70284926-70286188	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr16:70285711-70286251	IMR90	lung:	n/a	chr16:70286194-70286207 chr16:70285927-70285936 chr16:70286197-70286210
40	PML	chr16:70285447-70286868	K562	blood:	n/a	chr16:70286028-70286036
41	FOXM1	chr16:70285545-70286232	GM12878	blood:	n/a	n/a
42	SIN3AK20	chr16:70285434-70286367	HCT-116	colon:	n/a	n/a
43	POLR2A	chr16:70284912-70286363	K562	blood:	n/a	n/a
44	CCNT2	chr16:70284868-70286831	K562	blood:	n/a	n/a
45	FOXA2	chr16:70285553-70286167	A549	lung:	n/a	n/a
46	POLR2A	chr16:70284901-70286146	GM19193	blood:	n/a	n/a
47	BHLHE40	chr16:70285592-70286156	GM12878	blood:	n/a	n/a
48	JUND	chr16:70285353-70286199	A549	lung:	n/a	n/a
49	ZBTB33	chr16:70285546-70286179	SK-N-SH	brain:	n/a	n/a
50	CEBPD	chr16:70285569-70286448	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70278247..70283453-chr16:70284015..70287841,6	MCF-7	breast:
2	chr16:70284207..70286196-chr16:70321648..70323975,3	MCF-7	breast:
3	chr16:70279273..70282169-chr16:70284255..70286204,3	K562	blood:
4	chr16:70285239..70287287-chr16:70556700..70559340,2	K562	blood:
5	chr16:70284511..70286776-chr16:70330314..70334173,3	MCF-7	breast:
6	chr16:70279244..70282169-chr16:70284255..70286230,4	K562	blood:
7	chr16:70284251..70286200-chr16:70298122..70301114,5	MCF-7	breast:
8	chr16:70284271..70287113-chr16:70301564..70303205,2	MCF-7	breast:
9	chr16:70285367..70286970-chr17:73718097..73720794,2	MCF-7	breast:
10	chr16:70284505..70286615-chr16:70556732..70559559,2	MCF-7	breast:
11	chr16:70285081..70287489-chr16:70291525..70295571,5	K562	blood:
12	chr16:70284942..70287057-chr16:70291525..70294943,4	K562	blood:
13	chr16:70285876..70288887-chr16:70302566..70307390,4	K562	blood:

No data

Variant related genes	Relation type
EXOSC6	TF binding region
ENSG00000260537	Chromatin interaction
ENSG00000261556	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000132470	Chromatin interaction
ENSG00000265230	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv1830874	chr16:69968850-70298988	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv428328	chr16:69986563-70313222	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1802826	chr16:69988100-70287669	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	esv1820100	chr16:70048808-70311044	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv33745	chr16:70116599-70319873	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	esv1801017	chr16:70141558-70303736	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS 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	51 gene(s)	inside rSNPs	diseases
10	esv1796562	chr16:70206819-70289517	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	esv1825452	chr16:70206819-70289517	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	esv1804795	chr16:70206819-70294463	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv1061286	chr16:70253809-70331407	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	esv1826506	chr16:70253919-70287669	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv906868	chr16:70270429-70292810	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	esv3338628	chr16:70283151-70287449	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
17	esv3505211	chr16:70284351-70286799	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
18	esv3505212	chr16:70284351-70286799	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
19	nsv906869	chr16:70285901-70292810	Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	18 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	chr16:70283600-70286200	Active TSS	Hela-S3	cervix
2	chr16:70284400-70286200	Active TSS	Fetal Brain Female	brain
3	chr16:70284600-70286200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr16:70284600-70286200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:70284800-70286200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr16:70284800-70286400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr16:70285000-70286200	Active TSS	Duodenum Mucosa	Duodenum
8	chr16:70285000-70286200	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr16:70285000-70289800	Weak transcription	Fetal Brain Male	brain
10	chr16:70285200-70286200	Active TSS	Spleen	Spleen
11	chr16:70285800-70286200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr16:70285800-70286200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr16:70285800-70286200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:70285800-70286200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr16:70285800-70286200	Weak transcription	Stomach Mucosa	stomach
16	chr16:70285800-70286200	Weak transcription	NHDF-Ad	bronchial
17	chr16:70285800-70286400	Weak transcription	Primary B cells from cord blood	blood
18	chr16:70285800-70286400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr16:70285800-70286400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr16:70285800-70286400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr16:70285800-70286400	Weak transcription	Aorta	Aorta
22	chr16:70285800-70286400	Weak transcription	Psoas Muscle	Psoas
23	chr16:70285800-70286800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr16:70285800-70291600	Weak transcription	Fetal Kidney	kidney
25	chr16:70285800-70310200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:70286000-70286200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
27	chr16:70286000-70286200	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
28	chr16:70286000-70286200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:70286000-70286200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr16:70286000-70286200	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
31	chr16:70286000-70286200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
32	chr16:70286000-70286200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr16:70286000-70286200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr16:70286000-70286200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr16:70286000-70286200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr16:70286000-70286200	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr16:70286000-70286200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
38	chr16:70286000-70286200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr16:70286000-70286200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr16:70286000-70286200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr16:70286000-70286200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr16:70286000-70286200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
43	chr16:70286000-70286200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr16:70286000-70286200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr16:70286000-70286200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr16:70286000-70286200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr16:70286000-70286200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr16:70286000-70286200	Transcr. at gene 5' and 3'	Brain Angular Gyrus	brain
49	chr16:70286000-70286200	Enhancers	Brain Anterior Caudate	brain
50	chr16:70286000-70286200	Weak transcription	Brain Cingulate Gyrus	brain

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