Variant report

Variant	rs7645387
Chromosome Location	chr3:133175269-133175270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr3:133174886-133175323	MCF-7	breast:	n/a	n/a
2	ESR1	chr3:133174794-133175329	T-47D	breast:	n/a	n/a
3	HDAC2	chr3:133174884-133175347	MCF-7	breast:	n/a	n/a
4	CEBPB	chr3:133174858-133175271	K562	blood:	n/a	chr3:133175107-133175120 chr3:133175107-133175118
5	EP300	chr3:133174711-133175325	T-47D	breast:	n/a	n/a
6	EP300	chr3:133174699-133176214	MCF-7	breast:	n/a	chr3:133176097-133176107 chr3:133176173-133176183
7	ESR1	chr3:133174864-133175381	T-47D	breast:	n/a	n/a
8	NR2F2	chr3:133174724-133175380	MCF-7	breast:	n/a	n/a
9	GATA3	chr3:133174822-133175386	MCF-7	breast:	n/a	n/a
10	CEBPD	chr3:133174786-133175314	K562	blood:	n/a	n/a
11	SIN3AK20	chr3:133174592-133175559	MCF-7	breast:	n/a	n/a
12	ZNF217	chr3:133174970-133175290	MCF-7	breast:	n/a	n/a
13	CEBPB	chr3:133174909-133175389	MCF-7	breast:	n/a	chr3:133175107-133175120 chr3:133175107-133175118
14	TEAD4	chr3:133174657-133175297	K562	blood:	n/a	n/a
15	JUND	chr3:133174730-133175339	T-47D	breast:	n/a	n/a
16	ESR1	chr3:133174750-133175291	T-47D	breast:	n/a	n/a
17	TCF12	chr3:133174557-133176324	MCF-7	breast:	n/a	n/a
18	ATF1	chr3:133174836-133175307	K562	blood:	n/a	n/a
19	BHLHE40	chr3:133174829-133175279	K562	blood:	n/a	n/a
20	NR2F2	chr3:133174674-133175297	K562	blood:	n/a	n/a
21	GATA3	chr3:133174614-133175524	MCF-7	breast:	n/a	chr3:133174806-133174813
22	TCF12	chr3:133174730-133175429	MCF-7	breast:	n/a	n/a
23	GATA3	chr3:133174775-133175365	MCF-7	breast:	n/a	chr3:133174806-133174813
24	GATA3	chr3:133174773-133175307	T-47D	breast:	n/a	chr3:133174806-133174813
25	ESR1	chr3:133174866-133175311	T-47D	breast:	n/a	n/a
26	EP300	chr3:133174776-133175349	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:133175241-133175291	Hepatocyte	liver:	n/a
2	chr3:133175241-133175291	HAEpiC	amniotic membrane:	n/a
3	chr3:133175241-133175291	PFSK-1	brain:	n/a
4	chr3:133175241-133175291	SKMC	muscle:	n/a
5	chr3:133175241-133175291	AG09319	gingival:	n/a
6	chr3:133175241-133175291	NHDF-neo	bronchial:	n/a
7	chr3:133175241-133175291	NHBE	bronchial:	n/a
8	chr3:133175241-133175291	GM19239	blood:	n/a
9	chr3:133175241-133175291	ProgFib	skin:	n/a
10	chr3:133175241-133175291	GM06990	blood:	n/a
11	chr3:133175241-133175291	H1-hESC	embryonic stem cell:	embryo
12	chr3:133175241-133175291	HRE	kidney:	n/a
13	chr3:133175241-133175291	HCM	heart:	n/a
14	chr3:133175241-133175291	BJ	skin:	n/a
15	chr3:133175241-133175291	MCF10A-Er-Src	breast:	n/a
16	chr3:133175241-133175291	AG04450	lung:	fetal
17	chr3:133175241-133175291	U87	brain:	n/a
18	chr3:133175241-133175291	HRPEpiC	eye:	n/a
19	chr3:133175241-133175291	SAEC	small airway:	n/a
20	chr3:133175241-133175291	HL-60	blood:	n/a
21	chr3:133175241-133175291	RPTEC	kidney:	n/a
22	chr3:133175241-133175291	A549	lung:	n/a
23	chr3:133175241-133175291	HEK293	kidney:	embryo
24	chr3:133175241-133175291	PrEC	prostate:	n/a
25	chr3:133175241-133175291	CMK	blood:	n/a
26	chr3:133175241-133175291	PANC-1	pancreas:	n/a
27	chr3:133175241-133175291	HCF	heart:	n/a
28	chr3:133175241-133175291	MCF-7	breast:	n/a
29	chr3:133175241-133175291	K562	blood:	n/a
30	chr3:133175241-133175291	AoSMC	blood vessel:	n/a
31	chr3:133175241-133175291	GM12892	blood:	n/a
32	chr3:133175241-133175291	NB4	blood:	n/a
33	chr3:133175241-133175291	SK-N-SH	brain:	n/a
34	chr3:133175241-133175291	Caco-2	colon:	n/a
35	chr3:133175241-133175291	GM12878	blood:	n/a
36	chr3:133175241-133175291	IMR90	lung:	fetal
37	chr3:133175241-133175291	HCPEpiC	choroid plexus:	n/a
38	chr3:133175241-133175291	HRCEpiC	kidney:	n/a
39	chr3:133175241-133175291	Hela-S3	cervix:	n/a
40	chr3:133175241-133175291	SK-N-MC	brain:	n/a
41	chr3:133175241-133175291	AG09309	skin:	n/a
42	chr3:133175241-133175291	HNPCEpiC	eye:	n/a
43	chr3:133175241-133175291	AG04449	skin:	fetal
44	chr3:133175241-133175291	HUVEC	blood vessel:	n/a
45	chr3:133175241-133175291	NT2-D1	testis:	n/a
46	chr3:133175241-133175291	SK-N-SH_RA	brain:	n/a
47	chr3:133175241-133175291	HEEpiC	esophagus:	n/a
48	chr3:133175241-133175291	HPAEpiC	pulmonary alveolar:	n/a
49	chr3:133175241-133175291	T-47D	breast:	n/a
50	chr3:133175241-133175291	HepG2	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133169398..133190840-chr3:133288286..133298861,41	MCF-7	breast:

No data

Variant related genes	Relation type
BFSP2-AS1	TF binding region
BFSP2-AS1	CpG island
ENSG00000091527	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1317554	0.83[ASN][1000 genomes]
rs1610172	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7644197	0.85[ASN][1000 genomes]
rs9289446	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs967651	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007047	chr3:133137664-133181388	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1006289	chr3:133137664-133186808	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1829199	chr3:133158065-133213047	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv877505	chr3:133167363-133235272	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133161000-133191000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:133165400-133178600	Weak transcription	Aorta	Aorta
3	chr3:133168200-133178800	Weak transcription	Fetal Kidney	kidney
4	chr3:133169400-133177400	Weak transcription	Thymus	Thymus
5	chr3:133169800-133179400	Weak transcription	GM12878-XiMat	blood
6	chr3:133170400-133177200	Weak transcription	Fetal Thymus	thymus
7	chr3:133172400-133175600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:133172400-133178400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:133172400-133178400	Weak transcription	Stomach Mucosa	stomach
10	chr3:133173000-133178400	Weak transcription	HepG2	liver
11	chr3:133173200-133177800	Weak transcription	A549	lung
12	chr3:133173400-133178200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:133174600-133175400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:133174600-133176200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:133174600-133176200	Enhancers	Placenta	Placenta
16	chr3:133175000-133177800	Weak transcription	Esophagus	oesophagus
17	chr3:133175000-133178800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:133175000-133179600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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