Variant report

Variant	rs552849717
Chromosome Location	chr1:154156426-154156427
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr1:154154490-154156460	K562	blood:	n/a	chr1:154155441-154155452 chr1:154154531-154154543
2	POLR2A	chr1:154156294-154156546	K562	blood:	n/a	n/a
3	POLR2A	chr1:154154342-154156493	SK-N-MC	brain:	n/a	n/a
4	HCFC1	chr1:154154309-154156525	Hela-S3	cervix:	n/a	n/a
5	SP1	chr1:154155477-154156457	H1-hESC	embryonic stem cell:	n/a	chr1:154155952-154155959
6	SP1	chr1:154155592-154156469	H1-hESC	embryonic stem cell:	n/a	chr1:154155952-154155959
7	MXI1	chr1:154154298-154156427	SK-N-SH	brain:	n/a	chr1:154155880-154155895 chr1:154155882-154155897
8	ZNF384	chr1:154154782-154156540	K562	blood:	n/a	n/a
9	POLR2A	chr1:154154273-154156477	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154151605..154157694-chr1:154191153..154195788,18	MCF-7	breast:
2	chr1:154140357..154146704-chr1:154153646..154156969,7	MCF-7	breast:
3	chr1:154155037..154157341-chr1:154243497..154245632,3	MCF-7	breast:
4	chr1:154153141..154174161-chr1:154187746..154196033,47	MCF-7	breast:
5	chr1:153961881..153966027-chr1:154151379..154156773,10	MCF-7	breast:
6	chr1:154155826..154156719-chr11:67168555..67169361,2	Hela-S3	cervix:
7	chr1:154145134..154153289-chr1:154153487..154160631,22	K562	blood:
8	chr1:154154370..154156741-chr1:154377003..154381011,5	MCF-7	breast:
9	chr1:154153643..154157449-chr1:154190048..154195510,8	K562	blood:
10	chr1:154156233..154161758-chr1:154162933..154167291,6	K562	blood:
11	chr1:153938202..153942686-chr1:154154566..154158952,5	MCF-7	breast:
12	chr1:153961745..153965852-chr1:154153352..154156776,9	K562	blood:
13	chr1:153966341..153968649-chr1:154153580..154156511,2	K562	blood:
14	chr1:153962867..153965202-chr1:154154379..154156785,3	MCF-7	breast:
15	chr1:154155278..154160143-chr1:154165338..154167782,4	K562	blood:
16	chr1:154154736..154156502-chr20:45945207..45947491,2	MCF-7	breast:
17	chr1:154154241..154157353-chr1:154161640..154168172,9	MCF-7	breast:
18	chr1:154149113..154161877-chr1:154185436..154196776,24	K562	blood:
19	chr1:153961765..153965852-chr1:154152407..154156955,8	K562	blood:
20	chr1:154154597..154158912-chr1:154243474..154246502,4	K562	blood:
21	chr1:153915763..153918216-chr1:154155038..154156841,2	MCF-7	breast:

No data

Variant related genes	Relation type
TPM3	TF binding region
ENSG00000143575	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000198837	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000215938	Chromatin interaction
ENSG00000160712	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000273026	Chromatin interaction
ENSG00000228013	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000231416	Chromatin interaction
ENSG00000267882	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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	233 gene(s)	inside rSNPs	diseases
4	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
5	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
6	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
7	esv3453084	chr1:154156328-154161626	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
8	esv3453085	chr1:154156328-154161626	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154152400-154156600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:154152800-154156600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr1:154153800-154156600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr1:154153800-154156600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr1:154153800-154156600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:154154000-154157400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:154154200-154156600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr1:154155000-154156600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:154155400-154156600	Active TSS	HepG2	liver
10	chr1:154155800-154156600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr1:154155800-154156600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:154156000-154156600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:154156000-154156600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:154156000-154156600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr1:154156000-154156600	Flanking Active TSS	Hela-S3	cervix
16	chr1:154156200-154156600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:154156200-154156600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:154156200-154156600	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:154156200-154156600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr1:154156200-154156600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr1:154156200-154156600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:154156200-154156600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:154156200-154156600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:154156200-154156600	Enhancers	Fetal Muscle Trunk	muscle
25	chr1:154156200-154156600	Enhancers	Placenta	Placenta
26	chr1:154156200-154156800	Enhancers	Colonic Mucosa	Colon
27	chr1:154156200-154157000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr1:154156200-154157200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:154156200-154158400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:154156200-154158400	Weak transcription	Fetal Intestine Small	intestine
31	chr1:154156200-154158600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:154156200-154158800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:154156200-154163000	Weak transcription	Psoas Muscle	Psoas
34	chr1:154156400-154156600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:154156400-154156600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:154156400-154156600	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr1:154156400-154156600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr1:154156400-154156600	Enhancers	Primary B cells from cord blood	blood
39	chr1:154156400-154156600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr1:154156400-154156600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:154156400-154156600	Active TSS	Fetal Brain Female	brain
42	chr1:154156400-154156600	Enhancers	Fetal Thymus	thymus
43	chr1:154156400-154156600	Enhancers	Pancreas	Pancrea
44	chr1:154156400-154156600	Enhancers	Dnd41	blood
45	chr1:154156400-154156600	Flanking Active TSS	K562	blood
46	chr1:154156400-154156600	Enhancers	NHEK	skin
47	chr1:154156400-154157200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:154156400-154157200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:154156400-154157200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:154156400-154157200	Enhancers	HMEC	breast

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