Variant report

Variant	rs531876184
Chromosome Location	chr1:154159162-154159163
allele	A/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	CTCF	chr1:154158440-154159216	SK-N-SH	brain:	n/a	chr1:154158738-154158759 chr1:154158736-154158754 chr1:154158739-154158752
2	GATA3	chr1:154158530-154159513	T-47D	breast:	n/a	chr1:154158800-154158808 chr1:154158892-154158901 chr1:154158550-154158571
3	CEBPB	chr1:154159062-154159279	H1-hESC	embryonic stem cell:	n/a	chr1:154159149-154159160
4	CEBPB	chr1:154158973-154159276	A549	lung:	n/a	chr1:154159149-154159160
5	CEBPB	chr1:154158997-154159285	IMR90	lung:	n/a	chr1:154159149-154159160
6	GATA3	chr1:154158756-154159284	MCF-7	breast:	n/a	chr1:154158800-154158808 chr1:154158892-154158901
7	CEBPD	chr1:154158708-154159966	K562	blood:	n/a	n/a
8	CEBPB	chr1:154159001-154159295	Hela-S3	cervix:	n/a	chr1:154159149-154159160
9	TEAD4	chr1:154159142-154159987	K562	blood:	n/a	n/a
10	CEBPB	chr1:154158897-154160345	K562	blood:	n/a	chr1:154159149-154159160
11	ARID3A	chr1:154158624-154159915	K562	blood:	n/a	n/a
12	KAP1	chr1:154158534-154159988	U2OS	brain:	n/a	n/a
13	FOXA1	chr1:154158986-154159857	HepG2	liver:	n/a	chr1:154159380-154159395 chr1:154159450-154159462
14	FOXA1	chr1:154159013-154159637	T-47D	breast:	n/a	chr1:154159380-154159395 chr1:154159450-154159462
15	GATA3	chr1:154158627-154159193	SK-N-SH	brain:	n/a	chr1:154158800-154158808 chr1:154158892-154158901
16	EP300	chr1:154158622-154159934	K562	blood:	n/a	chr1:154159453-154159463
17	GATA3	chr1:154158545-154159715	MCF-7	breast:	n/a	chr1:154159690-154159697 chr1:154158800-154158808 chr1:154158892-154158901 chr1:154159690-154159697 chr1:154158550-154158571 chr1:154159688-154159698 chr1:154159690-154159697
18	RCOR1	chr1:154158609-154159949	K562	blood:	n/a	n/a
19	GATA2	chr1:154159140-154159942	K562	blood:	n/a	chr1:154159690-154159697 chr1:154159690-154159697 chr1:154159688-154159698 chr1:154159690-154159697
20	FOXA1	chr1:154159091-154159982	HepG2	liver:	n/a	chr1:154159380-154159395 chr1:154159450-154159462
21	CTCF	chr1:154159040-154159190	HCM	heart:	n/a	n/a
22	CEBPB	chr1:154158983-154159260	HepG2	liver:	n/a	chr1:154159149-154159160
23	FOXA2	chr1:154159049-154159584	A549	lung:	n/a	chr1:154159450-154159462
24	NR2F2	chr1:154159159-154160018	K562	blood:	n/a	n/a
25	CEBPB	chr1:154158935-154159958	K562	blood:	n/a	chr1:154159149-154159160
26	KAP1	chr1:154158572-154159942	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154159154..154160815-chr1:154163047..154164875,2	MCF-7	breast:
2	chr1:154158462..154159551-chr1:154244419..154245220,5	MCF-7	breast:
3	chr1:154158286..154159217-chr1:154244364..154245091,5	MCF-7	breast:
4	chr1:154158680..154159404-chr8:91334673..91335355,2	MCF-7	breast:
5	chr1:154158539..154161524-chr1:154242189..154245561,3	MCF-7	breast:
6	chr1:154153141..154174161-chr1:154187746..154196033,47	MCF-7	breast:
7	chr1:154158527..154159393-chr1:154171168..154172306,5	MCF-7	breast:
8	chr1:154145134..154153289-chr1:154153487..154160631,22	K562	blood:
9	chr1:154158467..154161316-chr1:154169815..154172829,3	MCF-7	breast:
10	chr1:154129855..154131682-chr1:154158722..154160655,2	K562	blood:
11	chr1:153963252..153965177-chr1:154158511..154161067,3	MCF-7	breast:
12	chr1:154158424..154161181-chr1:154245114..154247197,2	MCF-7	breast:
13	chr1:154158281..154159315-chr1:154244452..154245349,6	K562	blood:
14	chr1:154156233..154161758-chr1:154162933..154167291,6	K562	blood:
15	chr1:154157441..154159782-chr1:154297521..154299444,2	MCF-7	breast:
16	chr1:154159143..154160750-chr1:154457957..154460845,2	MCF-7	breast:
17	chr1:154158329..154159389-chr1:154307310..154308142,3	MCF-7	breast:
18	chr1:154158378..154160175-chr1:154161458..154162989,2	K562	blood:
19	chr1:154158089..154161877-chr1:154191453..154195317,5	K562	blood:
20	chr1:154155278..154160143-chr1:154165338..154167782,4	K562	blood:
21	chr1:154149113..154161877-chr1:154185436..154196776,24	K562	blood:
22	chr1:154157620..154160474-chr1:154243122..154244827,3	MCF-7	breast:
23	chr1:154158245..154159342-chr1:154307445..154308150,3	K562	blood:
24	chr1:154158282..154159260-chr1:154244542..154245527,2	MCF-7	breast:

Variant related genes	Relation type
TPM3	TF binding region
ENSG00000215938	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000143515	Chromatin interaction
ENSG00000169291	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000143575	Chromatin interaction
ENSG00000143612	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154156200-154163000	Weak transcription	Psoas Muscle	Psoas
2	chr1:154156400-154159400	Weak transcription	Small Intestine	intestine
3	chr1:154156400-154159600	Weak transcription	GM12878-XiMat	blood
4	chr1:154156400-154163200	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:154156400-154164200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:154156600-154164200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:154156800-154164200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:154157200-154164400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:154158000-154159600	Enhancers	Hela-S3	cervix
10	chr1:154158200-154159600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:154158200-154159800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:154158400-154159400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr1:154158400-154159400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:154158400-154159600	Enhancers	HSMM	muscle
15	chr1:154158400-154159800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr1:154158400-154159800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:154158400-154159800	Enhancers	Fetal Intestine Small	intestine
18	chr1:154158400-154160200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr1:154158400-154160200	Enhancers	HepG2	liver
20	chr1:154158400-154160400	Enhancers	Stomach Mucosa	stomach
21	chr1:154158400-154160600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr1:154158600-154159400	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr1:154158600-154160600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr1:154158800-154159200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:154158800-154159200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:154158800-154159400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr1:154158800-154159600	Enhancers	Duodenum Mucosa	Duodenum
28	chr1:154158800-154159800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr1:154158800-154159800	Enhancers	Fetal Intestine Large	intestine
30	chr1:154158800-154160000	Flanking Active TSS	K562	blood
31	chr1:154158800-154160800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
32	chr1:154159000-154159400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:154159000-154159400	Enhancers	A549	lung
34	chr1:154159000-154159600	Weak transcription	Pancreas	Pancrea
35	chr1:154159000-154159600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr1:154159000-154159800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr1:154159000-154159800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr1:154159000-154159800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr1:154159000-154159800	Weak transcription	HSMMtube	muscle
40	chr1:154159000-154160400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr1:154159000-154164600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:154159000-154184400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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