Variant report

Variant	rs573800939
Chromosome Location	chr5:17216609-17216610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:210)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:210 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:17216560-17216710	A549	lung:	n/a	n/a
2	CHD1	chr5:17215944-17216869	IMR90	lung:	n/a	n/a
3	E2F6	chr5:17215660-17217396	A549	lung:	n/a	chr5:17216123-17216132 chr5:17216400-17216408 chr5:17217250-17217259 chr5:17217247-17217257
4	RAD21	chr5:17216041-17217409	IMR90	lung:	n/a	n/a
5	MAX	chr5:17216158-17217126	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr5:17216155-17217462	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF143	chr5:17216102-17217290	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr5:17216156-17217263	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr5:17216606-17216930	GM19240	blood:	n/a	n/a
10	REST	chr5:17215926-17216793	A549	lung:	n/a	n/a
11	RAD21	chr5:17216133-17216670	HepG2	liver:	n/a	n/a
12	RAD21	chr5:17216131-17217425	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr5:17216510-17217072	GM12891	blood:	n/a	n/a
14	MXI1	chr5:17216298-17217088	H1-hESC	embryonic stem cell:	n/a	n/a
15	NFIC	chr5:17216148-17217326	ECC-1	luminal epithelium:	n/a	n/a
16	BRCA1	chr5:17215786-17217331	Hela-S3	cervix:	n/a	n/a
17	RAD21	chr5:17216126-17217194	H1-hESC	embryonic stem cell:	n/a	n/a
18	STAT3	chr5:17216329-17216653	GM12878	blood:	n/a	n/a
19	RAD21	chr5:17216192-17216632	HepG2	liver:	n/a	n/a
20	HDAC2	chr5:17216090-17216942	MCF-7	breast:	n/a	chr5:17216098-17216107
21	CEBPB	chr5:17216329-17216630	A549	lung:	n/a	n/a
22	CTCF	chr5:17216201-17216617	K562	blood:	n/a	n/a
23	NFIC	chr5:17216479-17216914	GM12878	blood:	n/a	n/a
24	RAD21	chr5:17216083-17216734	HCT-116	colon:	n/a	n/a
25	MAX	chr5:17216212-17216994	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr5:17216430-17216674	MCF10A-Er-Src	breast:	n/a	n/a
27	RAD21	chr5:17216103-17216737	ECC-1	luminal epithelium:	n/a	n/a
28	MYC	chr5:17216216-17216952	NB4	blood:	n/a	n/a
29	MAX	chr5:17216185-17217215	H1-hESC	embryonic stem cell:	n/a	n/a
30	USF1	chr5:17216000-17216774	A549	lung:	n/a	n/a
31	EP300	chr5:17216143-17216625	GM12878	blood:	n/a	n/a
32	SMARCC2	chr5:17216014-17217258	Hela-S3	cervix:	n/a	n/a
33	YY1	chr5:17216182-17217047	GM12878	blood:	n/a	n/a
34	BCLAF1	chr5:17216156-17216780	GM12878	blood:	n/a	n/a
35	CHD1	chr5:17216273-17216883	GM12878	blood:	n/a	n/a
36	SIN3AK20	chr5:17216115-17216667	PANC-1	pancreas:	n/a	n/a
37	WRNIP1	chr5:17216175-17216758	GM12878	blood:	n/a	n/a
38	POLR2A	chr5:17216529-17217172	A549	lung:	n/a	n/a
39	IRF4	chr5:17216145-17216730	GM12878	blood:	n/a	n/a
40	HDAC2	chr5:17216043-17217490	MCF-7	breast:	n/a	chr5:17216098-17216107
41	RCOR1	chr5:17216146-17217216	GM12878	blood:	n/a	n/a
42	FOXA2	chr5:17215819-17216722	A549	lung:	n/a	n/a
43	NR2F2	chr5:17216004-17216934	MCF-7	breast:	n/a	n/a
44	MYC	chr5:17216276-17216681	MCF10A-Er-Src	breast:	n/a	n/a
45	CHD2	chr5:17216100-17219472	Hela-S3	cervix:	n/a	chr5:17218841-17218851 chr5:17218352-17218362 chr5:17218195-17218205
46	MAX	chr5:17215989-17216992	A549	lung:	n/a	n/a
47	REST	chr5:17216126-17216863	A549	lung:	n/a	n/a
48	RAD21	chr5:17215696-17217908	SK-N-SH	brain:	n/a	chr5:17217826-17217839
49	GATA3	chr5:17216024-17218174	A549	lung:	n/a	chr5:17218110-17218119
50	YY1	chr5:17216479-17216990	SK-N-SH	brain:	n/a	n/a

No data

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

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	chr5:17216245..17216853-chr5:17883209..17883813,2	MCF-7	breast:
4	chr5:17215630..17217000-chr5:18305120..18306424,11	MCF-7	breast:
5	chr5:17216395..17218536-chr5:17655025..17657774,2	MCF-7	breast:
6	chr5:17216164..17216948-chr5:18281670..18282634,4	MCF-7	breast:
7	chr5:17215446..17220855-chr5:17303141..17309835,13	MCF-7	breast:
8	chr5:17216145..17216874-chr5:18043166..18044225,3	MCF-7	breast:
9	chr5:17216009..17216850-chr5:18113524..18114293,3	MCF-7	breast:
10	chr5:17216329..17216875-chr5:17413138..17413983,2	MCF-7	breast:
11	chr5:17216105..17216884-chr5:18043166..18043878,2	MCF-7	breast:
12	chr5:17216315..17216934-chr5:18313965..18314499,2	K562	blood:
13	chr5:17216042..17216848-chr5:18305108..18306015,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYO10-1	chr5:17216508-17217508	ENSG00000215196
2	lnc-MYO10-1	chr5:17216186-17217156	ENSG00000215196
3	lnc-MYO10-1	chr5:17216186-17217531	NONHSAT100620

No data

Variant related genes	Relation type
BASP1	TF binding region
ENSG00000185296	Chromatin interaction
ENSG00000269466	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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
10	esv3409498	chr5:17216377-17219325	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
11	esv3340625	chr5:17216602-17219300	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17213600-17222200	Active TSS	Fetal Brain Female	brain
2	chr5:17213800-17217200	Active TSS	Fetal Brain Male	brain
3	chr5:17214000-17219800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:17214600-17219400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr5:17214800-17218800	Active TSS	A549	lung
6	chr5:17215000-17217200	Flanking Active TSS	Hela-S3	cervix
7	chr5:17215000-17219400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr5:17215200-17217200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr5:17215400-17216800	Active TSS	Brain Hippocampus Middle	brain
10	chr5:17215400-17219800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr5:17215400-17221000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:17215600-17217400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr5:17215600-17219000	Active TSS	Brain Cingulate Gyrus	brain
14	chr5:17215800-17219400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr5:17215800-17219400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:17215800-17220400	Active TSS	Brain Anterior Caudate	brain
17	chr5:17216000-17216800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:17216000-17217200	Enhancers	Liver	Liver
19	chr5:17216000-17219400	Active TSS	Fetal Kidney	kidney
20	chr5:17216200-17216800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:17216200-17217000	Flanking Active TSS	NH-A	brain
22	chr5:17216200-17217200	Enhancers	Pancreas	Pancrea
23	chr5:17216200-17219200	Active TSS	NHLF	lung
24	chr5:17216200-17219400	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr5:17216200-17219400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:17216200-17219800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr5:17216200-17219800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:17216400-17216800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:17216400-17216800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr5:17216400-17216800	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr5:17216400-17216800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
32	chr5:17216400-17216800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
33	chr5:17216400-17216800	Active TSS	Psoas Muscle	Psoas
34	chr5:17216400-17216800	Active TSS	Right Ventricle	heart
35	chr5:17216400-17216800	Flanking Active TSS	GM12878-XiMat	blood
36	chr5:17216400-17217000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr5:17216400-17217000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:17216400-17217000	ZNF genes & repeats	Right Atrium	heart
39	chr5:17216400-17217000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
40	chr5:17216400-17217000	Flanking Active TSS	HMEC	breast
41	chr5:17216400-17217000	Flanking Active TSS	NHEK	skin
42	chr5:17216400-17217200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr5:17216400-17217200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:17216400-17217200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:17216400-17217200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr5:17216400-17217200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
47	chr5:17216400-17217200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr5:17216400-17217200	Flanking Active TSS	Fetal Stomach	stomach
49	chr5:17216400-17217200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
50	chr5:17216400-17217200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum

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