Variant report

Variant	rs547523146
Chromosome Location	chr5:17215996-17215997
allele	C/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	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	REST	chr5:17215926-17216793	A549	lung:	n/a	n/a
4	BRCA1	chr5:17215786-17217331	Hela-S3	cervix:	n/a	n/a
5	FOXA2	chr5:17215819-17216722	A549	lung:	n/a	n/a
6	MAX	chr5:17215989-17216992	A549	lung:	n/a	n/a
7	RAD21	chr5:17215696-17217908	SK-N-SH	brain:	n/a	chr5:17217826-17217839
8	NR3C1	chr5:17215975-17216601	A549	lung:	n/a	n/a
9	SP1	chr5:17215936-17217943	A549	lung:	n/a	chr5:17217486-17217500
10	EP300	chr5:17215962-17217908	A549	lung:	n/a	n/a
11	NR3C1	chr5:17215959-17216584	A549	lung:	n/a	n/a
12	CTCF	chr5:17215899-17217427	SK-N-SH	brain:	n/a	n/a
13	MAX	chr5:17215806-17219739	A549	lung:	n/a	chr5:17218380-17218390
14	BCL3	chr5:17215965-17217474	A549	lung:	n/a	chr5:17217253-17217262 chr5:17217256-17217265 chr5:17217251-17217264
15	E2F6	chr5:17215742-17217278	H1-hESC	embryonic stem cell:	n/a	chr5:17216123-17216132 chr5:17216400-17216408 chr5:17217250-17217259 chr5:17217247-17217257
16	RAD21	chr5:17215985-17217405	A549	lung:	n/a	n/a
17	MAFK	chr5:17215610-17217327	Hela-S3	cervix:	n/a	n/a
18	SIN3AK20	chr5:17215891-17217285	MCF-7	breast:	n/a	n/a
19	RAD21	chr5:17215965-17217073	MCF-7	breast:	n/a	n/a
20	MAX	chr5:17215960-17217400	MCF-7	breast:	n/a	n/a
21	MAX	chr5:17215995-17217353	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr5:17215956-17217385	A549	lung:	n/a	n/a
23	TCF12	chr5:17215851-17220113	A549	lung:	n/a	chr5:17218840-17218850 chr5:17216098-17216107 chr5:17215997-17216004
24	TFAP2C	chr5:17215985-17217405	Hela-S3	cervix:	n/a	chr5:17216295-17216310
25	RFX5	chr5:17214940-17217355	Hela-S3	cervix:	n/a	chr5:17215164-17215179 chr5:17215164-17215179 chr5:17215164-17215179 chr5:17215163-17215180
26	REST	chr5:17215249-17221561	H1-neurons	neurons:	n/a	chr5:17217790-17217803
27	SMC3	chr5:17215939-17217428	SK-N-SH	brain:	n/a	chr5:17217247-17217257
28	MAZ	chr5:17215963-17218738	GM12878	blood:	n/a	chr5:17218380-17218390
29	MAZ	chr5:17215715-17219699	IMR90	lung:	n/a	chr5:17218380-17218390
30	SP1	chr5:17215944-17217945	A549	lung:	n/a	chr5:17217486-17217500
31	TBP	chr5:17215950-17217240	Hela-S3	cervix:	n/a	n/a
32	SMARCC1	chr5:17215434-17217316	Hela-S3	cervix:	n/a	n/a
33	MAX	chr5:17215935-17217425	A549	lung:	n/a	n/a
34	GATA3	chr5:17215996-17217496	MCF-7	breast:	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:

Variant related genes	Relation type
BASP1	TF binding region
ENSG00000185296	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:42 , 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	chr5:17215200-17216000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:17215200-17217200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr5:17215400-17216000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:17215400-17216800	Active TSS	Brain Hippocampus Middle	brain
22	chr5:17215400-17219800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr5:17215400-17221000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:17215600-17216000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:17215600-17216000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr5:17215600-17216200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:17215600-17216200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
28	chr5:17215600-17216200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:17215600-17216400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr5:17215600-17217400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr5:17215600-17219000	Active TSS	Brain Cingulate Gyrus	brain
32	chr5:17215800-17216000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:17215800-17216200	Enhancers	Osteobl	bone
34	chr5:17215800-17216400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:17215800-17216400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr5:17215800-17216400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:17215800-17216400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr5:17215800-17216400	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr5:17215800-17216600	Active TSS	Brain Germinal Matrix	brain
40	chr5:17215800-17219400	Active TSS	H1 Cell Line	embryonic stem cell
41	chr5:17215800-17219400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:17215800-17220400	Active TSS	Brain Anterior Caudate	brain

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