Variant report

Variant	rs587757088
Chromosome Location	chr1:144519146-144519147
allele	A/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	chr1:144518792-144522545	GM12878	blood:	n/a	n/a
2	POU2F2	chr1:144518792-144522486	GM12878	blood:	n/a	chr1:144520062-144520074 chr1:144520578-144520590
3	POLR2A	chr1:144518839-144522559	GM12892	blood:	n/a	n/a
4	POLR2A	chr1:144518804-144521678	Hela-S3	cervix:	n/a	n/a
5	NFIC	chr1:144519138-144521206	GM12878	blood:	n/a	n/a
6	GATA2	chr1:144518787-144519455	K562	blood:	n/a	n/a
7	POLR2A	chr1:144518819-144522457	GM12891	blood:	n/a	n/a
8	POLR2A	chr1:144519094-144522384	GM12891	blood:	n/a	n/a
9	POLR2A	chr1:144517833-144522689	H1-hESC	embryonic stem cell:	n/a	n/a
10	SP1	chr1:144518660-144521209	GM12878	blood:	n/a	chr1:144520589-144520603 chr1:144520575-144520584 chr1:144520582-144520591 chr1:144520690-144520700 chr1:144520583-144520597 chr1:144520575-144520585 chr1:144519643-144519657 chr1:144519644-144519653 chr1:144520722-144520735 chr1:144520691-144520700 chr1:144519972-144519986 chr1:144520690-144520704 chr1:144520578-144520592
11	POLR2A	chr1:144518842-144521634	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:144518659-144522505	GM12878	blood:	n/a	n/a
13	SP1	chr1:144518955-144522505	GM12878	blood:	n/a	chr1:144520589-144520603 chr1:144520575-144520584 chr1:144521845-144521852 chr1:144520582-144520591 chr1:144520690-144520700 chr1:144520583-144520597 chr1:144520575-144520585 chr1:144519643-144519657 chr1:144519644-144519653 chr1:144520722-144520735 chr1:144520691-144520700 chr1:144519972-144519986 chr1:144520690-144520704 chr1:144520578-144520592
14	POLR2A	chr1:144518903-144521638	GM12891	blood:	n/a	n/a
15	POLR2A	chr1:144518775-144522474	GM12892	blood:	n/a	n/a
16	EBF1	chr1:144519128-144520983	GM12878	blood:	n/a	chr1:144520018-144520027
17	PAX5	chr1:144518782-144521651	GM12878	blood:	n/a	n/a
18	BCL11A	chr1:144518822-144521528	GM12878	blood:	n/a	chr1:144520101-144520110 chr1:144520329-144520342 chr1:144520377-144520386 chr1:144520691-144520704 chr1:144520378-144520391 chr1:144521379-144521388 chr1:144521327-144521340 chr1:144521320-144521333
19	TAF1	chr1:144519122-144521633	GM12892	blood:	n/a	n/a
20	POLR2A	chr1:144518805-144521632	GM12892	blood:	n/a	n/a
21	IRF4	chr1:144518866-144521612	GM12878	blood:	n/a	chr1:144519868-144519882
22	POLR2A	chr1:144518714-144522520	GM12892	blood:	n/a	n/a
23	HEY1	chr1:144519072-144521644	K562	blood:	n/a	chr1:144521328-144521343
24	IRF4	chr1:144518930-144522532	GM12878	blood:	n/a	chr1:144519868-144519882
25	SIX5	chr1:144518957-144519401	GM12878	blood:	n/a	chr1:144519068-144519082
26	POLR2A	chr1:144518814-144521429	GM12891	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIAL4B-2	chr1:144514874-144519720	NONHSAT005809

Variant related genes	Relation type
ENSG00000236943	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:44 , 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	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	nsv946234	chr1:144493025-144533425	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
36	esv1822219	chr1:144501844-144522535	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
37	esv1850323	chr1:144501844-144522535	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
38	nsv8025	chr1:144502031-144527040	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
39	esv1819664	chr1:144502863-144522535	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
40	esv1850837	chr1:144502863-144522535	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
41	esv20623	chr1:144503077-144526916	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
42	nsv831292	chr1:144506093-144613511	Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	248 gene(s)	inside rSNPs	diseases
43	nsv946737	chr1:144510636-144527091	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
44	esv3353489	chr1:144513995-144520493	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144518000-144519200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:144518400-144519200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:144518400-144519200	Weak transcription	Primary T cells from cord blood	blood
4	chr1:144518400-144519200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:144518400-144519200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:144518400-144519200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:144518400-144519200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:144518400-144519200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:144518400-144519400	Weak transcription	Liver	Liver
10	chr1:144518400-144519400	Weak transcription	Fetal Lung	lung
11	chr1:144519000-144519200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:144519000-144519200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr1:144519000-144519200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:144519000-144519200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:144519000-144519200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:144519000-144519200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr1:144519000-144519200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:144519000-144519200	Enhancers	Fetal Intestine Large	intestine
19	chr1:144519000-144522000	Active TSS	Primary T helper cells fromperipheralblood	blood

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