Variant report

Variant	rs373656486
Chromosome Location	chr1:228743492-228743493
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	RPC155	chr1:228743308-228743705	K562	blood:	n/a	n/a
2	GTF3C2	chr1:228743328-228743740	K562	blood:	n/a	n/a
3	RUNX3	chr1:228743435-228743680	GM12878	blood:	n/a	n/a
4	EP300	chr1:228743341-228743647	GM12878	blood:	n/a	chr1:228743408-228743424
5	ZNF384	chr1:228743427-228743687	K562	blood:	n/a	n/a
6	ZNF143	chr1:228743398-228743598	K562	blood:	n/a	n/a
7	TBP	chr1:228743364-228743626	GM12878	blood:	n/a	n/a
8	RAD21	chr1:228743342-228743584	HepG2	liver:	n/a	n/a
9	RFX5	chr1:228743468-228743554	HepG2	liver:	n/a	n/a
10	MAX	chr1:228743454-228743534	NB4	blood:	n/a	n/a
11	CREB1	chr1:228743297-228743744	HepG2	liver:	n/a	n/a
12	TBP	chr1:228743333-228743643	H1-hESC	embryonic stem cell:	n/a	n/a
13	TBP	chr1:228743283-228743681	K562	blood:	n/a	n/a
14	YY1	chr1:228743313-228743696	HepG2	liver:	n/a	chr1:228743407-228743416
15	CTCF	chr1:228743430-228743518	MCF-7	breast:	n/a	n/a
16	TBP	chr1:228743423-228743633	Hela-S3	cervix:	n/a	n/a
17	RCOR1	chr1:228743467-228743624	HepG2	liver:	n/a	n/a
18	ARID3A	chr1:228743385-228743565	HepG2	liver:	n/a	n/a
19	TEAD4	chr1:228743250-228743666	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:228743480-228743495	K562	blood:	n/a	n/a
21	USF1	chr1:228743388-228743579	HepG2	liver:	n/a	n/a
22	TBP	chr1:228743286-228743703	HepG2	liver:	n/a	n/a
23	MBD4	chr1:228743360-228743629	HepG2	liver:	n/a	n/a
24	CTCF	chr1:228743450-228743522	MCF-7	breast:	n/a	n/a
25	RPC155	chr1:228743347-228743786	Hela-S3	cervix:	n/a	n/a
26	ATF3	chr1:228743369-228743629	K562	blood:	n/a	n/a
27	CTCF	chr1:228743446-228743496	GM12892	blood:	n/a	n/a
28	TCF3	chr1:228743252-228743496	GM12878	blood:	n/a	chr1:228743425-228743438
29	GTF3C2	chr1:228743389-228743767	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr1:228743422-228743543	HepG2	liver:	n/a	n/a
31	ZBTB7A	chr1:228743395-228743608	HepG2	liver:	n/a	n/a
32	MAZ	chr1:228743404-228743647	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
DUSP5P1	TF binding region
RNA5SP19	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	esv15299	chr1:228716554-228744099	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
4	nsv827075	chr1:228716554-228783674	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
5	nsv945355	chr1:228716611-228784016	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
6	nsv511124	chr1:228742457-228780671	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island	18 gene(s)	inside rSNPs	diseases
7	esv19715	chr1:228742638-228783674	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
8	esv3425415	chr1:228742829-228783527	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
9	nsv827086	chr1:228742962-228783035	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
10	nsv820567	chr1:228742962-228783403	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
11	nsv827097	chr1:228742962-228783403	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
12	esv3331974	chr1:228743029-228783527	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
13	esv3342484	chr1:228743029-228783527	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
14	esv3382956	chr1:228743029-228783527	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
15	esv3445359	chr1:228743029-228783527	Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
16	esv3450984	chr1:228743029-228783527	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228743000-228743600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
2	chr1:228743000-228744000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:228743200-228743600	Active TSS	HepG2	liver
4	chr1:228743200-228744000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:228743400-228743800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

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