Variant report

Variant	rs587723604
Chromosome Location	chr1:144491964-144491965
allele	G/T
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	chr1:144491250-144492064	A549	lung:	n/a	n/a
2	SPI1	chr1:144491192-144492096	GM12891	blood:	n/a	n/a
3	POLR2A	chr1:144490690-144492291	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:144490918-144492299	Hela-S3	cervix:	n/a	n/a
5	TCF3	chr1:144491122-144492127	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:144490962-144492257	H1-hESC	embryonic stem cell:	n/a	n/a
7	SPI1	chr1:144491763-144492059	K562	blood:	n/a	n/a
8	FOXP2	chr1:144491666-144492031	SK-N-MC	brain:	n/a	n/a
9	HEY1	chr1:144490050-144492293	K562	blood:	n/a	chr1:144491628-144491643
10	POLR2A	chr1:144490036-144492465	GM12892	blood:	n/a	n/a
11	POLR2A	chr1:144490914-144492182	U87	brain:	n/a	n/a
12	IRF4	chr1:144491010-144492381	GM12878	blood:	n/a	n/a
13	GABPA	chr1:144491706-144492011	HepG2	liver:	n/a	n/a
14	SIN3AK20	chr1:144491896-144492069	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:144490923-144492074	PFSK-1	brain:	n/a	n/a
16	TAF1	chr1:144491306-144492318	H1-hESC	embryonic stem cell:	n/a	n/a
17	POU2F2	chr1:144491088-144491995	GM12878	blood:	n/a	n/a
18	ELF1	chr1:144491786-144492002	GM12878	blood:	n/a	n/a
19	STAT5A	chr1:144490995-144492056	K562	blood:	n/a	n/a
20	FOSL2	chr1:144491315-144492184	HepG2	liver:	n/a	n/a
21	PBX3	chr1:144491157-144492028	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:144490642-144492346	GM12891	blood:	n/a	n/a
23	POLR2A	chr1:144490749-144492372	GM12892	blood:	n/a	n/a
24	SPI1	chr1:144491239-144492149	GM12878	blood:	n/a	n/a
25	NR3C1	chr1:144491455-144491978	A549	lung:	n/a	n/a
26	POLR2A	chr1:144491002-144492048	PANC-1	pancreas:	n/a	n/a
27	PAX5	chr1:144491011-144492100	GM12878	blood:	n/a	n/a
28	GABPA	chr1:144491599-144492021	HepG2	liver:	n/a	n/a
29	POLR2A	chr1:144490539-144492363	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:144490784-144492402	GM12892	blood:	n/a	n/a
31	EBF1	chr1:144491133-144492024	GM12878	blood:	n/a	n/a
32	HEY1	chr1:144491004-144492252	HepG2	liver:	n/a	chr1:144491628-144491643
33	SP1	chr1:144491243-144492006	HepG2	liver:	n/a	chr1:144491980-144491993 chr1:144491978-144491987 chr1:144491977-144491989 chr1:144491979-144491988 chr1:144491978-144491987
34	POLR2A	chr1:144490104-144492401	GM12878	blood:	n/a	n/a
35	TAF1	chr1:144491135-144492231	GM12891	blood:	n/a	n/a
36	PAX5	chr1:144490857-144492040	GM12878	blood:	n/a	n/a
37	SPI1	chr1:144491872-144491991	GM12878	blood:	n/a	n/a
38	POLR2A	chr1:144491136-144492106	HepG2	liver:	n/a	n/a
39	BATF	chr1:144490944-144491993	GM12878	blood:	n/a	n/a
40	TRIM28	chr1:144490961-144491996	K562	blood:	n/a	n/a
41	PAX5	chr1:144490945-144491983	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:144491161-144492101	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr1:144490918-144492169	Hela-S3	cervix:	n/a	n/a
44	SP1	chr1:144491043-144492046	GM12878	blood:	n/a	chr1:144491980-144491993 chr1:144491978-144491987 chr1:144491977-144491989 chr1:144491979-144491988 chr1:144491978-144491987
45	HEY1	chr1:144490872-144492319	K562	blood:	n/a	chr1:144491628-144491643
46	SPI1	chr1:144491164-144492121	K562	blood:	n/a	n/a
47	TAF1	chr1:144491314-144492243	H1-hESC	embryonic stem cell:	n/a	n/a
48	CBX3	chr1:144491147-144492044	K562	blood:	n/a	n/a
49	POLR2A	chr1:144490606-144492295	GM12891	blood:	n/a	n/a
50	POU2F2	chr1:144490825-144492309	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000236943	TF binding region
RNVU1-5	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003583	chr1:144007818-144543442	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
2	nsv1002681	chr1:144007818-144560590	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
3	nsv1012104	chr1:144007818-144682096	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	260 gene(s)	inside rSNPs	diseases
4	nsv1006330	chr1:144007818-144849544	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	262 gene(s)	inside rSNPs	diseases
5	nsv1001989	chr1:144007818-144873327	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
6	nsv997949	chr1:144007818-144876884	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
7	nsv1010670	chr1:144007818-144880405	Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
8	nsv1010163	chr1:144007818-144884322	Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
9	nsv1014985	chr1:144007818-144949963	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
10	nsv1002373	chr1:144013582-144682096	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	258 gene(s)	inside rSNPs	diseases
11	nsv1007748	chr1:144015838-144682096	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	258 gene(s)	inside rSNPs	diseases
12	nsv997876	chr1:144033939-144538748	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
13	nsv524682	chr1:144034888-144617179	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
14	nsv1007246	chr1:144036737-144560590	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
15	nsv1006612	chr1:144050098-144560590	Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
16	esv1831165	chr1:144094693-144520821	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
17	esv1831653	chr1:144094693-144520821	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	esv1828275	chr1:144274482-145098718	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
19	esv1816945	chr1:144300531-144520821	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	esv1851433	chr1:144318894-144518980	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv872205	chr1:144320413-144520547	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	esv1828066	chr1:144321072-144520821	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
23	esv1832004	chr1:144321072-144520821	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
24	esv1824612	chr1:144321072-144526927	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
25	esv2512286	chr1:144321887-144560360	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	251 gene(s)	inside rSNPs	diseases
26	esv1843150	chr1:144322804-144520821	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
27	esv1842762	chr1:144322804-144526927	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
28	nsv1014641	chr1:144337917-144880405	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
29	nsv998833	chr1:144337917-144885032	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
30	esv1827406	chr1:144383319-144520821	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
31	nsv534082	chr1:144451745-144524956	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
32	esv10891	chr1:144451781-144526868	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
33	esv3523372	chr1:144453745-144501843	Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
34	esv3523373	chr1:144453745-144501843	Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
35	esv3371921	chr1:144453795-144497293	Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
36	esv3489124	chr1:144454295-144494793	Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
37	esv3489125	chr1:144454295-144494793	Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
38	esv3453820	chr1:144454595-144500793	Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
39	esv3453821	chr1:144454595-144500793	Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
40	nsv1009682	chr1:144471974-144876884	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
41	nsv1008142	chr1:144471974-144880405	Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
42	nsv1001693	chr1:144471974-145290292	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	311 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	chr1:144491800-144492200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:144491800-144492200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:144491800-144492200	Active TSS	Fetal Thymus	thymus
4	chr1:144491800-144492200	Active TSS	Monocytes-CD14+_RO01746	blood
5	chr1:144491800-144492200	Active TSS	Osteobl	bone

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