Variant report

Variant	rs552472247
Chromosome Location	chr6:29645075-29645076
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	POLR2A	chr6:29644978-29645297	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr6:29644981-29645161	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr6:29644999-29645371	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:29644877-29645442	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr6:29644812-29645381	MCF10A-Er-Src	breast:	n/a	n/a
6	SRF	chr6:29645018-29645404	ECC-1	luminal epithelium:	n/a	chr6:29645192-29645209 chr6:29645197-29645210 chr6:29645196-29645211 chr6:29645197-29645210 chr6:29645194-29645208 chr6:29645199-29645208 chr6:29645199-29645210 chr6:29645198-29645209 chr6:29645194-29645212 chr6:29645195-29645212 chr6:29645198-29645212
7	POLR2A	chr6:29644999-29645262	H1-hESC	embryonic stem cell:	n/a	n/a
8	SRF	chr6:29644943-29645376	H1-hESC	embryonic stem cell:	n/a	chr6:29645192-29645209 chr6:29645197-29645210 chr6:29645196-29645211 chr6:29645197-29645210 chr6:29645194-29645208 chr6:29645199-29645208 chr6:29645199-29645210 chr6:29645198-29645209 chr6:29645194-29645212 chr6:29645195-29645212 chr6:29645198-29645212
9	SETDB1	chr6:29645012-29645347	U2OS	brain:	n/a	n/a
10	FOS	chr6:29644883-29645323	MCF10A-Er-Src	breast:	n/a	n/a
11	SRF	chr6:29644912-29645313	H1-hESC	embryonic stem cell:	n/a	chr6:29645192-29645209 chr6:29645197-29645210 chr6:29645196-29645211 chr6:29645197-29645210 chr6:29645194-29645208 chr6:29645199-29645208 chr6:29645199-29645210 chr6:29645198-29645209 chr6:29645194-29645212 chr6:29645195-29645212 chr6:29645198-29645212
12	REST	chr6:29644651-29645161	PFSK-1	brain:	n/a	n/a
13	FOS	chr6:29644805-29645368	MCF10A-Er-Src	breast:	n/a	n/a
14	EP300	chr6:29645033-29645354	H1-hESC	embryonic stem cell:	n/a	n/a
15	KAP1	chr6:29644923-29645327	U2OS	brain:	n/a	n/a
16	SRF	chr6:29644984-29645462	MCF-7	breast:	n/a	chr6:29645192-29645209 chr6:29645197-29645210 chr6:29645196-29645211 chr6:29645197-29645210 chr6:29645194-29645208 chr6:29645199-29645208 chr6:29645199-29645210 chr6:29645198-29645209 chr6:29645194-29645212 chr6:29645195-29645212 chr6:29645198-29645212
17	MAX	chr6:29644993-29645321	H1-hESC	embryonic stem cell:	n/a	n/a
18	REST	chr6:29644643-29645199	PFSK-1	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29645038-29645088	AG09309	skin:	n/a
2	chr6:29645038-29645088	GM19239	blood:	n/a
3	chr6:29645038-29645088	BE2_C	brain:	n/a
4	chr6:29645038-29645088	T-47D	breast:	n/a
5	chr6:29645038-29645088	GM12878	blood:	n/a
6	chr6:29645038-29645088	AG09319	gingival:	n/a
7	chr6:29645038-29645088	SK-N-SH	brain:	n/a
8	chr6:29645038-29645088	PANC-1	pancreas:	n/a
9	chr6:29645038-29645088	Jurkat	blood:	n/a
10	chr6:29645038-29645088	NH-A	brain:	n/a
11	chr6:29645038-29645088	HNPCEpiC	eye:	n/a
12	chr6:29645038-29645088	LNCaP	prostate:	n/a
13	chr6:29645038-29645088	Hepatocyte	liver:	n/a
14	chr6:29645038-29645088	HMEC	breast:	n/a
15	chr6:29645038-29645088	GM06990	blood:	n/a
16	chr6:29645038-29645088	HepG2	liver:	n/a
17	chr6:29645038-29645088	MCF-7	breast:	n/a
18	chr6:29645038-29645088	SK-N-MC	brain:	n/a
19	chr6:29645038-29645088	SAEC	small airway:	n/a
20	chr6:29645038-29645088	PFSK-1	brain:	n/a
21	chr6:29645038-29645088	HEEpiC	esophagus:	n/a
22	chr6:29645038-29645088	GM12891	blood:	n/a
23	chr6:29645038-29645088	ECC-1	luminal epithelium:	n/a
24	chr6:29645038-29645088	AG10803	skin:	n/a
25	chr6:29645038-29645088	H1-hESC	embryonic stem cell:	embryo
26	chr6:29645038-29645088	Hela-S3	cervix:	n/a
27	chr6:29645038-29645088	HCM	heart:	n/a
28	chr6:29645038-29645088	CMK	blood:	n/a
29	chr6:29645038-29645088	ProgFib	skin:	n/a
30	chr6:29645038-29645088	ovcar-3	ovarian:	n/a
31	chr6:29645038-29645088	HCF	heart:	n/a
32	chr6:29645038-29645088	HCPEpiC	choroid plexus:	n/a
33	chr6:29645038-29645088	AG04449	skin:	fetal
34	chr6:29645038-29645088	HRCEpiC	kidney:	n/a
35	chr6:29645038-29645088	SKMC	muscle:	n/a
36	chr6:29645038-29645088	HPAEpiC	pulmonary alveolar:	n/a
37	chr6:29645038-29645088	A549	lung:	n/a
38	chr6:29645038-29645088	HRPEpiC	eye:	n/a
39	chr6:29645038-29645088	NT2-D1	testis:	n/a
40	chr6:29645038-29645088	RPTEC	kidney:	n/a
41	chr6:29645038-29645088	SK-N-SH_RA	brain:	n/a
42	chr6:29645038-29645088	MCF10A-Er-Src	breast:	n/a
43	chr6:29645038-29645088	HEK293	kidney:	embryo
44	chr6:29645038-29645088	NB4	blood:	n/a
45	chr6:29645038-29645088	IMR90	lung:	fetal
46	chr6:29645038-29645088	BJ	skin:	n/a
47	chr6:29645038-29645088	HUVEC	blood vessel:	n/a
48	chr6:29645038-29645088	NHDF-neo	bronchial:	n/a
49	chr6:29645038-29645088	PrEC	prostate:	n/a
50	chr6:29645038-29645088	K562	blood:	n/a

Variant related genes	Relation type
ZFP57	TF binding region
ZFP57	CpG island

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758039	chr6:29469101-29672665	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2759411	chr6:29469101-29672665	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv883530	chr6:29645038-29677641	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29625000-29663600	Weak transcription	Right Atrium	heart
2	chr6:29639600-29647400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:29643000-29646400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:29643000-29648800	Enhancers	HMEC	breast
5	chr6:29643200-29648400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:29643400-29648400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:29643800-29647600	Enhancers	Fetal Heart	heart
8	chr6:29644400-29645200	Enhancers	Primary hematopoietic stem cells	blood
9	chr6:29644400-29645400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:29644400-29645600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:29644400-29646200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr6:29644600-29645200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr6:29644600-29645200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr6:29644600-29645400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:29644600-29645400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr6:29644600-29645800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:29644600-29646000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:29644600-29647800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:29644800-29645200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:29644800-29645200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:29644800-29645200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:29644800-29645200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:29644800-29645400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr6:29644800-29645400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr6:29644800-29645400	Enhancers	GM12878-XiMat	blood
26	chr6:29644800-29645400	Flanking Active TSS	NHEK	skin
27	chr6:29644800-29645600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:29644800-29646200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr6:29644800-29647400	Enhancers	Hela-S3	cervix
30	chr6:29644800-29647600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr6:29644800-29648000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr6:29644800-29648000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:29645000-29645200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:29645000-29645400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr6:29645000-29646800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr6:29645000-29648000	Weak transcription	Primary monocytes fromperipheralblood	blood

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