Variant report

Variant	rs536414183
Chromosome Location	chr5:17216105-17216106
allele	-/AT
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	CHD1	chr5:17215944-17216869	IMR90	lung:	n/a	n/a
2	E2F6	chr5:17215660-17217396	A549	lung:	n/a	chr5:17216123-17216132 chr5:17216400-17216408 chr5:17217250-17217259 chr5:17217247-17217257
3	RAD21	chr5:17216041-17217409	IMR90	lung:	n/a	n/a
4	ZNF143	chr5:17216102-17217290	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr5:17215926-17216793	A549	lung:	n/a	n/a
6	BRCA1	chr5:17215786-17217331	Hela-S3	cervix:	n/a	n/a
7	HDAC2	chr5:17216090-17216942	MCF-7	breast:	n/a	chr5:17216098-17216107
8	RAD21	chr5:17216083-17216734	HCT-116	colon:	n/a	n/a
9	RAD21	chr5:17216103-17216737	ECC-1	luminal epithelium:	n/a	n/a
10	USF1	chr5:17216000-17216774	A549	lung:	n/a	n/a
11	SMARCC2	chr5:17216014-17217258	Hela-S3	cervix:	n/a	n/a
12	HDAC2	chr5:17216043-17217490	MCF-7	breast:	n/a	chr5:17216098-17216107
13	FOXA2	chr5:17215819-17216722	A549	lung:	n/a	n/a
14	NR2F2	chr5:17216004-17216934	MCF-7	breast:	n/a	n/a
15	CHD2	chr5:17216100-17219472	Hela-S3	cervix:	n/a	chr5:17218841-17218851 chr5:17218352-17218362 chr5:17218195-17218205
16	MAX	chr5:17215989-17216992	A549	lung:	n/a	n/a
17	RAD21	chr5:17215696-17217908	SK-N-SH	brain:	n/a	chr5:17217826-17217839
18	NR3C1	chr5:17215975-17216601	A549	lung:	n/a	n/a
19	GATA3	chr5:17216024-17218174	A549	lung:	n/a	chr5:17218110-17218119
20	SP1	chr5:17215936-17217943	A549	lung:	n/a	chr5:17217486-17217500
21	EP300	chr5:17215962-17217908	A549	lung:	n/a	n/a
22	NR3C1	chr5:17215959-17216584	A549	lung:	n/a	n/a
23	NR3C1	chr5:17216065-17216541	A549	lung:	n/a	n/a
24	CTCF	chr5:17215899-17217427	SK-N-SH	brain:	n/a	n/a
25	EP300	chr5:17216014-17216765	MCF-7	breast:	n/a	n/a
26	MAX	chr5:17215806-17219739	A549	lung:	n/a	chr5:17218380-17218390
27	TCF7L2	chr5:17216093-17217341	Hela-S3	cervix:	n/a	n/a
28	MAX	chr5:17216069-17217307	Hela-S3	cervix:	n/a	n/a
29	SIN3AK20	chr5:17216057-17216767	A549	lung:	n/a	n/a
30	BCL3	chr5:17215965-17217474	A549	lung:	n/a	chr5:17217253-17217262 chr5:17217256-17217265 chr5:17217251-17217264
31	E2F6	chr5:17215742-17217278	H1-hESC	embryonic stem cell:	n/a	chr5:17216123-17216132 chr5:17216400-17216408 chr5:17217250-17217259 chr5:17217247-17217257
32	ELK1	chr5:17216077-17217289	Hela-S3	cervix:	n/a	n/a
33	RAD21	chr5:17215985-17217405	A549	lung:	n/a	n/a
34	MAFK	chr5:17215610-17217327	Hela-S3	cervix:	n/a	n/a
35	USF2	chr5:17216078-17216658	Hela-S3	cervix:	n/a	n/a
36	EP300	chr5:17216005-17218133	ECC-1	luminal epithelium:	n/a	n/a
37	SIN3AK20	chr5:17215891-17217285	MCF-7	breast:	n/a	n/a
38	RAD21	chr5:17215965-17217073	MCF-7	breast:	n/a	n/a
39	MAX	chr5:17216096-17217420	ECC-1	luminal epithelium:	n/a	n/a
40	NR3C1	chr5:17216055-17216484	A549	lung:	n/a	n/a
41	POLR2A	chr5:17216079-17220341	Hela-S3	cervix:	n/a	n/a
42	MAX	chr5:17215960-17217400	MCF-7	breast:	n/a	n/a
43	MAX	chr5:17215995-17217353	Hela-S3	cervix:	n/a	n/a
44	CREB1	chr5:17216046-17217371	A549	lung:	n/a	n/a
45	CTCF	chr5:17216060-17216210	AoAF	blood vessel:	n/a	n/a
46	MXI1	chr5:17216081-17217233	Hela-S3	cervix:	n/a	n/a
47	EP300	chr5:17216105-17217565	A549	lung:	n/a	n/a
48	CTCF	chr5:17216051-17217274	IMR90	lung:	n/a	n/a
49	RAD21	chr5:17216023-17217335	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr5:17215956-17217385	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:17215544..17223113-chr5:17298591..17308160,18	MCF-7	breast:
2	chr5:17215651..17216975-chr5:18113428..18114478,9	MCF-7	breast:
3	chr5:17215630..17217000-chr5:18305120..18306424,11	MCF-7	breast:
4	chr5:17215446..17220855-chr5:17303141..17309835,13	MCF-7	breast:
5	chr5:17216009..17216850-chr5:18113524..18114293,3	MCF-7	breast:
6	chr5:17216105..17216884-chr5:18043166..18043878,2	MCF-7	breast:
7	chr5:17216042..17216848-chr5:18305108..18306015,2	K562	blood:

Variant related genes	Relation type
BASP1	TF binding region
ENSG00000185296	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	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv830218	chr5:17093162-17290045	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv4738	chr5:17178267-17223677	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv521697	chr5:17211649-17225333	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv597312	chr5:17214901-17225333	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv823015	chr5:17216009-17219199	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
9	esv3343514	chr5:17216052-17219850	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17200000-17216200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:17212400-17216600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:17213400-17216200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:17213600-17216400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:17213600-17222200	Active TSS	Fetal Brain Female	brain
6	chr5:17213800-17216400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:17213800-17217200	Active TSS	Fetal Brain Male	brain
8	chr5:17214000-17216200	Active TSS	Brain Angular Gyrus	brain
9	chr5:17214000-17219800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:17214200-17216200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:17214200-17216400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:17214600-17216400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:17214600-17219400	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr5:17214800-17218800	Active TSS	A549	lung
15	chr5:17215000-17216200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:17215000-17217200	Flanking Active TSS	Hela-S3	cervix
17	chr5:17215000-17219400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr5:17215200-17217200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr5:17215400-17216800	Active TSS	Brain Hippocampus Middle	brain
20	chr5:17215400-17219800	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr5:17215400-17221000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:17215600-17216200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:17215600-17216200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
24	chr5:17215600-17216200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:17215600-17216400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:17215600-17217400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr5:17215600-17219000	Active TSS	Brain Cingulate Gyrus	brain
28	chr5:17215800-17216200	Enhancers	Osteobl	bone
29	chr5:17215800-17216400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:17215800-17216400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr5:17215800-17216400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:17215800-17216400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr5:17215800-17216400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr5:17215800-17216600	Active TSS	Brain Germinal Matrix	brain
35	chr5:17215800-17219400	Active TSS	H1 Cell Line	embryonic stem cell
36	chr5:17215800-17219400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:17215800-17220400	Active TSS	Brain Anterior Caudate	brain
38	chr5:17216000-17216200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:17216000-17216200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr5:17216000-17216200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
41	chr5:17216000-17216200	Enhancers	NH-A	brain
42	chr5:17216000-17216200	Enhancers	NHLF	lung
43	chr5:17216000-17216400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr5:17216000-17216400	Active TSS	Primary B cells from cord blood	blood
45	chr5:17216000-17216400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:17216000-17216400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:17216000-17216800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:17216000-17217200	Enhancers	Liver	Liver
49	chr5:17216000-17219400	Active TSS	Fetal Kidney	kidney

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