Variant report

Variant	rs80242961
Chromosome Location	chr1:154158388-154158389
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:154158347-154159114	A549	lung:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
2	CTCF	chr1:154158260-154158410	BE2_C	brain:	n/a	n/a
3	CTCF	chr1:154158240-154158390	SAEC	small airway:	n/a	n/a
4	CTCF	chr1:154158320-154158470	WERI-Rb-1	eye:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154157284..154158987-chr1:154175294..154177755,2	K562	blood:
2	chr1:154158286..154159217-chr1:154244364..154245091,5	MCF-7	breast:
3	chr1:154153141..154174161-chr1:154187746..154196033,47	MCF-7	breast:
4	chr1:154145134..154153289-chr1:154153487..154160631,22	K562	blood:
5	chr1:154158281..154159315-chr1:154244452..154245349,6	K562	blood:
6	chr1:154156233..154161758-chr1:154162933..154167291,6	K562	blood:
7	chr1:154157441..154159782-chr1:154297521..154299444,2	MCF-7	breast:
8	chr1:154158325..154158864-chr1:154325830..154326669,2	MCF-7	breast:
9	chr1:153938202..153942686-chr1:154154566..154158952,5	MCF-7	breast:
10	chr1:154158329..154159389-chr1:154307310..154308142,3	MCF-7	breast:
11	chr1:154155019..154156953-chr1:154157061..154158850,3	MCF-7	breast:
12	chr1:154158378..154160175-chr1:154161458..154162989,2	K562	blood:
13	chr1:154158089..154161877-chr1:154191453..154195317,5	K562	blood:
14	chr1:154155278..154160143-chr1:154165338..154167782,4	K562	blood:
15	chr1:154149113..154161877-chr1:154185436..154196776,24	K562	blood:
16	chr1:154157620..154160474-chr1:154243122..154244827,3	MCF-7	breast:
17	chr1:154154597..154158912-chr1:154243474..154246502,4	K562	blood:
18	chr1:154158245..154159342-chr1:154307445..154308150,3	K562	blood:
19	chr1:154158282..154159260-chr1:154244542..154245527,2	MCF-7	breast:

No data

Variant related genes	Relation type
TPM3	TF binding region
ENSG00000143549	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000143575	Chromatin interaction
ENSG00000215938	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000143515	Chromatin interaction
ENSG00000273026	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	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
9	esv12863	chr1:154158242-154161302	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154156200-154158400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:154156200-154158400	Weak transcription	Fetal Intestine Small	intestine
3	chr1:154156200-154158600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:154156200-154158800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:154156200-154163000	Weak transcription	Psoas Muscle	Psoas
6	chr1:154156400-154158400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:154156400-154158400	Weak transcription	Stomach Mucosa	stomach
8	chr1:154156400-154158400	Weak transcription	HSMM	muscle
9	chr1:154156400-154158600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:154156400-154158600	Weak transcription	Fetal Kidney	kidney
11	chr1:154156400-154158600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:154156400-154158800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:154156400-154158800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:154156400-154158800	Weak transcription	Fetal Intestine Large	intestine
15	chr1:154156400-154159000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:154156400-154159000	Weak transcription	A549	lung
17	chr1:154156400-154159400	Weak transcription	Small Intestine	intestine
18	chr1:154156400-154159600	Weak transcription	GM12878-XiMat	blood
19	chr1:154156400-154163200	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:154156400-154164200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:154156600-154158400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:154156600-154158400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:154156600-154158400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:154156600-154158400	Weak transcription	HepG2	liver
25	chr1:154156600-154158600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:154156600-154158800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:154156600-154158800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:154156600-154158800	Weak transcription	Pancreas	Pancrea
29	chr1:154156600-154164200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:154156800-154164200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:154157200-154164400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:154157400-154158600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:154157600-154158800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:154158000-154159600	Enhancers	Hela-S3	cervix
35	chr1:154158200-154158400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:154158200-154158400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr1:154158200-154158800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr1:154158200-154158800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
39	chr1:154158200-154158800	Enhancers	K562	blood
40	chr1:154158200-154159000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr1:154158200-154159000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:154158200-154159000	Enhancers	HSMMtube	muscle
43	chr1:154158200-154159600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:154158200-154159800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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