Variant report

Variant	rs28768198
Chromosome Location	chr5:147248737-147248738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr5:147248576-147248991	H1-hESC	embryonic stem cell:	n/a	n/a
2	TAF1	chr5:147248592-147249114	H1-hESC	embryonic stem cell:	n/a	n/a
3	SP1	chr5:147248538-147249110	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:147248505-147250221	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAFK	chr5:147248656-147248933	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr5:147248613-147249016	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF1	chr5:147248652-147249142	H1-hESC	embryonic stem cell:	n/a	n/a
8	TEAD4	chr5:147247896-147248993	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYC	chr5:147248727-147249047	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:147246099-147256428	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr5:147247774-147250258	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr5:147248499-147249707	H1-hESC	embryonic stem cell:	n/a	n/a
13	SP4	chr5:147248553-147249415	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr5:147248719-147249047	H1-hESC	embryonic stem cell:	n/a	n/a
15	POU5F1	chr5:147248546-147249066	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr5:147248491-147249068	H1-hESC	embryonic stem cell:	n/a	n/a
17	SP1	chr5:147248486-147249004	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr5:147248706-147250088	H1-hESC	embryonic stem cell:	n/a	n/a
19	EGR1	chr5:147248636-147249071	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr5:147248513-147250098	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr5:147248581-147249237	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr5:147248482-147249422	H1-hESC	embryonic stem cell:	n/a	n/a
23	YY1	chr5:147248515-147249237	H1-hESC	embryonic stem cell:	n/a	n/a
24	NANOG	chr5:147248634-147248972	H1-hESC	embryonic stem cell:	n/a	n/a
25	YY1	chr5:147248483-147249181	H1-hESC	embryonic stem cell:	n/a	n/a
26	TAF7	chr5:147248670-147249129	H1-hESC	embryonic stem cell:	n/a	n/a
27	POU5F1	chr5:147248568-147248930	H1-hESC	embryonic stem cell:	n/a	n/a
28	GTF2F1	chr5:147248647-147249093	H1-hESC	embryonic stem cell:	n/a	n/a
29	NANOG	chr5:147248661-147248986	H1-hESC	embryonic stem cell:	n/a	n/a
30	BCL11A	chr5:147248729-147248902	H1-hESC	embryonic stem cell:	n/a	n/a
31	TAF7	chr5:147248491-147249590	H1-hESC	embryonic stem cell:	n/a	n/a
32	BRCA1	chr5:147248624-147249087	H1-hESC	embryonic stem cell:	n/a	n/a
33	MXI1	chr5:147248728-147249131	H1-hESC	embryonic stem cell:	n/a	n/a
34	SIN3A	chr5:147248594-147249206	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr5:147248718-147249162	H1-hESC	embryonic stem cell:	n/a	n/a
36	JUND	chr5:147248701-147249099	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr5:147248723-147249034	H1-hESC	embryonic stem cell:	n/a	n/a
38	USF2	chr5:147248727-147249177	H1-hESC	embryonic stem cell:	n/a	n/a
39	TBP	chr5:147248586-147249284	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
SCGB3A2	TF binding region

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1157507	0.82[AMR][1000 genomes]
rs28788866	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv933308	chr5:147173804-147269006	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3397747	chr5:147245959-147250557	Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3321795	chr5:147247359-147251957	Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147234200-147262400	Weak transcription	Right Atrium	heart
2	chr5:147238600-147248800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:147240000-147248800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:147243400-147248800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:147244600-147248800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:147245200-147248800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:147246600-147248800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:147246600-147248800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:147247600-147248800	Active TSS	H1 Cell Line	embryonic stem cell
10	chr5:147247600-147248800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr5:147247600-147248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:147247600-147260200	Weak transcription	Aorta	Aorta
13	chr5:147247800-147248800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr5:147247800-147248800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr5:147248000-147248800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr5:147248200-147248800	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr5:147248400-147249000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:147248600-147248800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr5:147248600-147248800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr5:147248600-147249000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:147248600-147249400	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
22	chr5:147248600-147249400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:147248600-147249400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:147248600-147249400	Enhancers	Monocytes-CD14+_RO01746	blood

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