Variant report

Variant	rs537059073
Chromosome Location	chr4:152022719-152022720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:152022476-152022949	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr4:152022566-152022819	K562	blood:	n/a	n/a
3	HEY1	chr4:152022430-152022892	HepG2	liver:	n/a	n/a
4	USF2	chr4:152022561-152022735	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr4:152022509-152022987	HCT-116	colon:	n/a	n/a
6	POLR2A	chr4:152022448-152022761	HCT-116	colon:	n/a	n/a
7	POLR2A	chr4:152020085-152022939	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr4:152020280-152022971	HepG2	liver:	n/a	n/a
9	POLR2A	chr4:152022456-152022821	U87	brain:	n/a	n/a
10	POLR2A	chr4:152022437-152022790	K562	blood:	n/a	n/a
11	POLR2A	chr4:152019349-152025502	GM12878	blood:	n/a	n/a
12	WRNIP1	chr4:152022567-152022832	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:152022367-152023316	U87	brain:	n/a	n/a
14	POLR2A	chr4:152022221-152022932	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr4:152022475-152022997	HepG2	liver:	n/a	n/a
16	POLR2A	chr4:152022093-152022825	GM12892	blood:	n/a	n/a
17	POLR2A	chr4:152021802-152022938	HepG2	liver:	n/a	n/a
18	POLR2A	chr4:152022188-152022874	SK-N-SH	brain:	n/a	n/a
19	MXI1	chr4:152022420-152022809	K562	blood:	n/a	n/a
20	HEY1	chr4:152022457-152022984	K562	blood:	n/a	n/a
21	POLR2A	chr4:152018984-152022925	GM12891	blood:	n/a	n/a
22	POLR2A	chr4:152020280-152029909	K562	blood:	n/a	n/a
23	POLR2A	chr4:152022651-152022908	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr4:152020230-152022822	K562	blood:	n/a	n/a
25	POLR2A	chr4:152022111-152022872	PFSK-1	brain:	n/a	n/a
26	CTCF	chr4:152022620-152022770	GM12865	blood:	n/a	n/a
27	POLR2A	chr4:152020083-152022925	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr4:152020271-152022946	K562	blood:	n/a	n/a
29	POLR2A	chr4:152022704-152022729	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr4:152022389-152029763	K562	blood:	n/a	n/a
31	POLR2A	chr4:152022168-152022858	HepG2	liver:	n/a	n/a
32	POLR2A	chr4:152022095-152022905	GM12878	blood:	n/a	n/a
33	POLR2A	chr4:152020166-152022982	SK-N-MC	brain:	n/a	n/a
34	CHD1	chr4:152022521-152022842	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr4:152022283-152022824	MCF-7	breast:	n/a	n/a
36	POLR2A	chr4:152022305-152023904	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:151932388..151938493-chr4:152018908..152023577,12	K562	blood:
2	chr4:151932388..151938967-chr4:152018772..152026013,16	K562	blood:
3	chr4:152019186..152022865-chr4:152245245..152246932,3	MCF-7	breast:
4	chr4:151934961..151939391-chr4:152019005..152023866,18	MCF-7	breast:
5	chr4:151920425..151923102-chr4:152021028..152022824,2	K562	blood:

No data

Variant related genes	Relation type
SNORD73A	TF binding region
ENSG00000201264	TF binding region
ENSG00000198589	Chromatin interaction
ENSG00000109686	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1018404	chr4:151664438-152067409	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1017850	chr4:151664438-152071876	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv2763837	chr4:151664438-152071888	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv870257	chr4:151665349-152072867	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1015387	chr4:151673751-152071876	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv526976	chr4:151675819-152055073	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv1025077	chr4:151682266-152035733	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv537303	chr4:151682266-152035733	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv949066	chr4:151693149-152069566	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv1031720	chr4:151708502-152071876	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
16	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
17	nsv1031516	chr4:151718614-152065644	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
18	nsv537304	chr4:151718614-152065644	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
19	nsv1022884	chr4:151718814-152065505	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
20	nsv537305	chr4:151718814-152065505	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
21	nsv595690	chr4:151788955-152109552	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
22	nsv1026416	chr4:151847403-152105879	Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
23	nsv1018797	chr4:151913585-152073419	Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
24	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
25	nsv1016220	chr4:151997139-152164126	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
26	nsv537306	chr4:151997139-152164126	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
27	nsv964104	chr4:152022129-152028885	Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152020200-152022800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:152020200-152023000	Active TSS	Right Ventricle	heart
3	chr4:152020200-152023200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:152020600-152023200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:152020800-152023800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:152020800-152024000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
7	chr4:152021000-152023400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
8	chr4:152021000-152023800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
9	chr4:152021000-152023800	Transcr. at gene 5' and 3'	A549	lung
10	chr4:152021000-152023800	Transcr. at gene 5' and 3'	Dnd41	blood
11	chr4:152021000-152024000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
12	chr4:152021200-152022800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:152021200-152023000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
14	chr4:152021200-152023000	Transcr. at gene 5' and 3'	NHEK	skin
15	chr4:152021200-152023800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
16	chr4:152021200-152024000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
17	chr4:152021200-152024000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:152021200-152024000	Transcr. at gene 5' and 3'	K562	blood
19	chr4:152021400-152023200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:152021400-152024000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:152021400-152025200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:152021600-152022800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
23	chr4:152021600-152023000	Enhancers	Small Intestine	intestine
24	chr4:152021600-152023200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:152021600-152023200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:152021600-152023200	Transcr. at gene 5' and 3'	Osteobl	bone
27	chr4:152021800-152022800	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
28	chr4:152021800-152022800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:152021800-152022800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:152021800-152022800	Transcr. at gene 5' and 3'	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:152021800-152022800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
32	chr4:152021800-152022800	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
33	chr4:152021800-152022800	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
34	chr4:152021800-152022800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
35	chr4:152021800-152022800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
36	chr4:152021800-152023200	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
37	chr4:152021800-152023200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:152021800-152023200	Transcr. at gene 5' and 3'	HSMM	muscle
39	chr4:152021800-152023200	Transcr. at gene 5' and 3'	NH-A	brain
40	chr4:152021800-152023200	Transcr. at gene 5' and 3'	NHLF	lung
41	chr4:152021800-152023600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
42	chr4:152021800-152023800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:152021800-152023800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
44	chr4:152021800-152024000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:152021800-152024000	Transcr. at gene 5' and 3'	HMEC	breast
46	chr4:152021800-152025200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
47	chr4:152021800-152026200	Weak transcription	Aorta	Aorta
48	chr4:152022000-152022800	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:152022000-152022800	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
50	chr4:152022000-152022800	Genic enhancers	Primary monocytes fromperipheralblood	blood

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