Variant report

Variant	rs565793485
Chromosome Location	chr1:228758198-228758199
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	chr1:228757855-228758320	HepG2	liver:	n/a	n/a
2	SPI1	chr1:228758135-228758312	GM12878	blood:	n/a	chr1:228758242-228758249
3	CTCF	chr1:228757848-228758573	K562	blood:	n/a	chr1:228758435-228758448 chr1:228757867-228757876 chr1:228757864-228757877
4	FOXP2	chr1:228757816-228758427	PFSK-1	brain:	n/a	n/a
5	CTCF	chr1:228758155-228758222	GM10248	blood:	n/a	n/a
6	CTCF	chr1:228758160-228758231	Spleen_OC	spleen:	n/a	n/a
7	SIN3AK20	chr1:228756615-228758936	A549	lung:	n/a	n/a
8	SIN3AK20	chr1:228758097-228758198	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:228743903-228763119	PANC-1	pancreas:	n/a	n/a
10	CTCF	chr1:228757994-228758420	K562	blood:	n/a	n/a
11	SP1	chr1:228757931-228758245	K562	blood:	n/a	n/a
12	CTCF	chr1:228758026-228758427	K562	blood:	n/a	n/a
13	NR2F2	chr1:228757758-228758493	K562	blood:	n/a	n/a
14	ZBTB33	chr1:228758137-228758400	HepG2	liver:	n/a	n/a
15	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
16	TCF3	chr1:228758151-228758397	GM12878	blood:	n/a	n/a
17	SPI1	chr1:228758068-228758602	GM12878	blood:	n/a	chr1:228758242-228758249
18	ZBTB33	chr1:228758101-228758203	HepG2	liver:	n/a	n/a
19	SPI1	chr1:228758085-228758208	K562	blood:	n/a	n/a
20	SIN3AK20	chr1:228757012-228758371	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr1:228758058-228758229	Hela-S3	cervix:	n/a	n/a
22	GATA2	chr1:228758053-228758307	K562	blood:	n/a	n/a
23	YY1	chr1:228756712-228758545	A549	lung:	n/a	chr1:228756750-228756764 chr1:228756760-228756771 chr1:228756754-228756765 chr1:228757396-228757405 chr1:228757394-228757405 chr1:228757810-228757819 chr1:228756747-228756758
24	SIX5	chr1:228758062-228758368	K562	blood:	n/a	n/a
25	ZBTB33	chr1:228758046-228758406	K562	blood:	n/a	n/a
26	FOSL2	chr1:228758055-228758374	HepG2	liver:	n/a	n/a
27	FOXA2	chr1:228743895-228782766	A549	lung:	n/a	n/a
28	HEY1	chr1:228758056-228758234	K562	blood:	n/a	n/a
29	POU2F2	chr1:228758129-228758322	GM12878	blood:	n/a	n/a
30	HEY1	chr1:228758051-228758399	HepG2	liver:	n/a	n/a
31	POLR2A	chr1:228752325-228758678	SK-N-MC	brain:	n/a	n/a
32	HEY1	chr1:228758068-228758315	K562	blood:	n/a	n/a
33	SIX5	chr1:228743910-228770094	A549	lung:	n/a	n/a
34	CEBPB	chr1:228757789-228758242	GM12878	blood:	n/a	n/a
35	CBX3	chr1:228756716-228760610	K562	blood:	n/a	n/a
36	SIX5	chr1:228757809-228758389	A549	lung:	n/a	n/a
37	MYBL2	chr1:228756565-228759813	HepG2	liver:	n/a	n/a
38	POLR2A	chr1:228757818-228758417	SK-N-MC	brain:	n/a	n/a
39	TCF3	chr1:228758103-228758245	GM12878	blood:	n/a	n/a
40	CEBPD	chr1:228757823-228758348	K562	blood:	n/a	n/a
41	POLR2A	chr1:228743910-228779025	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr1:228756782-228761116	PFSK-1	brain:	n/a	n/a
43	SP1	chr1:228756811-228758509	A549	lung:	n/a	chr1:228757623-228757633 chr1:228757750-228757760 chr1:228757623-228757633
44	SPI1	chr1:228758085-228758370	K562	blood:	n/a	chr1:228758242-228758249
45	USF1	chr1:228758092-228758205	HepG2	liver:	n/a	n/a
46	ZBTB33	chr1:228758064-228758313	K562	blood:	n/a	n/a
47	CBX3	chr1:228756779-228759666	K562	blood:	n/a	n/a
48	SIN3AK20	chr1:228757778-228758543	A549	lung:	n/a	n/a
49	GABPA	chr1:228758131-228758317	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
RNA5S5	TF binding region
RNA5S6	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 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
19	esv3397939	chr1:228757647-228760264	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region	4 gene(s)	inside rSNPs	diseases
20	esv1826482	chr1:228758016-228780671	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island	12 gene(s)	inside rSNPs	diseases
21	esv1834256	chr1:228758016-228780671	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	12 gene(s)	inside rSNPs	diseases
22	esv1831035	chr1:228758016-228782866	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
23	esv1828070	chr1:228758016-228793246	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228757000-228771000	Weak transcription	Right Atrium	heart
2	chr1:228757800-228758200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
3	chr1:228757800-228758200	Active TSS	Adipose Nuclei	Adipose
4	chr1:228757800-228758200	Active TSS	Fetal Stomach	stomach
5	chr1:228757800-228758200	Active TSS	Dnd41	blood
6	chr1:228757800-228758200	Active TSS	HSMM	muscle
7	chr1:228758000-228758200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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