Variant report

Variant	rs138820457
Chromosome Location	chr1:228747943-228747944
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	BHLHE40	chr1:228747752-228747952	HepG2	liver:	n/a	chr1:228747812-228747828 chr1:228747817-228747833
2	FOSL2	chr1:228747664-228747944	HepG2	liver:	n/a	chr1:228747728-228747737
3	POLR2A	chr1:228747663-228747948	Hela-S3	cervix:	n/a	n/a
4	POU2F2	chr1:228747649-228747976	GM12891	blood:	n/a	chr1:228747819-228747831
5	POU2F2	chr1:228747666-228747948	GM12891	blood:	n/a	chr1:228747819-228747831
6	GABPA	chr1:228747674-228747945	Hela-S3	cervix:	n/a	n/a
7	SP1	chr1:228747646-228747964	GM12878	blood:	n/a	n/a
8	TRIM28	chr1:228747836-228748533	K562	blood:	n/a	n/a
9	EP300	chr1:228747744-228747952	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:228743903-228763119	PANC-1	pancreas:	n/a	n/a
11	PAX5	chr1:228747749-228747944	GM12878	blood:	n/a	n/a
12	SP1	chr1:228747831-228749615	A549	lung:	n/a	chr1:228748685-228748695 chr1:228748685-228748695 chr1:228748812-228748822
13	ZBTB33	chr1:228747661-228747948	K562	blood:	n/a	n/a
14	SIN3AK20	chr1:228747729-228748674	A549	lung:	n/a	n/a
15	RXRA	chr1:228747618-228747980	HepG2	liver:	n/a	chr1:228747793-228747813
16	JUND	chr1:228744099-228759006	A549	lung:	n/a	chr1:228748791-228748805 chr1:228747728-228747737 chr1:228753273-228753287 chr1:228744309-228744323 chr1:228746550-228746564 chr1:228745487-228745496 chr1:228755514-228755528 chr1:228751032-228751046 chr1:228758886-228758895 chr1:228749969-228749978 chr1:228752210-228752219 chr1:228754451-228754460 chr1:228757729-228757743
17	TCF12	chr1:228747668-228747943	HepG2	liver:	n/a	n/a
18	MYBL2	chr1:228747754-228748739	HepG2	liver:	n/a	n/a
19	TEAD4	chr1:228747761-228748601	HepG2	liver:	n/a	n/a
20	PAX5	chr1:228747633-228747988	GM12878	blood:	n/a	n/a
21	POU2F2	chr1:228747630-228747967	GM12878	blood:	n/a	chr1:228747819-228747831
22	POLR2A	chr1:228745758-228752131	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr1:228746213-228750694	PFSK-1	brain:	n/a	n/a
24	HEY1	chr1:228747654-228747956	HepG2	liver:	n/a	chr1:228747816-228747831 chr1:228747813-228747828 chr1:228747707-228747722
25	FOXA2	chr1:228743895-228782766	A549	lung:	n/a	n/a
26	SIN3AK20	chr1:228747842-228748630	A549	lung:	n/a	n/a
27	YY1	chr1:228747751-228748789	A549	lung:	n/a	chr1:228747822-228747833 chr1:228748458-228748467 chr1:228747809-228747820 chr1:228747816-228747827 chr1:228747812-228747826 chr1:228748456-228748467
28	POLR2A	chr1:228743920-228757394	PFSK-1	brain:	n/a	n/a
29	SIX5	chr1:228743910-228770094	A549	lung:	n/a	n/a
30	ZBTB33	chr1:228747645-228747966	K562	blood:	n/a	n/a
31	ZBTB33	chr1:228747743-228747972	GM12878	blood:	n/a	n/a
32	TCF3	chr1:228747539-228747954	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:228743910-228779025	PANC-1	pancreas:	n/a	n/a
34	STAT5A	chr1:228747759-228748508	K562	blood:	n/a	chr1:228748405-228748417
35	CBX3	chr1:228747705-228750045	K562	blood:	n/a	n/a
36	SIX5	chr1:228747833-228748460	A549	lung:	n/a	n/a
37	CBX3	chr1:228746295-228748726	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNA5S1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	esv1816306	chr1:228743784-228781208	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island	17 gene(s)	inside rSNPs	diseases
17	esv1823022	chr1:228744778-228780896	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	17 gene(s)	inside rSNPs	diseases
18	esv1849885	chr1:228744778-228780896	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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