Variant report

Variant	rs529751638
Chromosome Location	chr5:177658273-177658274
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	CEBPB	chr5:177658050-177659845	Hela-S3	cervix:	n/a	chr5:177658233-177658246
2	GTF2F1	chr5:177657986-177658917	Hela-S3	cervix:	n/a	n/a
3	ATF3	chr5:177658255-177658574	K562	blood:	n/a	n/a
4	POLR2A	chr5:177656872-177658787	K562	blood:	n/a	n/a
5	ZNF263	chr5:177656888-177659341	HEK293-T-REx	kidney:	n/a	n/a
6	MAX	chr5:177658204-177660356	HepG2	liver:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
7	POLR2A	chr5:177658156-177660670	GM18505	blood:	n/a	n/a
8	FOS	chr5:177658081-177658466	MCF10A-Er-Src	breast:	n/a	n/a
9	SMARCB1	chr5:177658048-177660271	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr5:177658056-177658392	GM12878	blood:	n/a	n/a
11	E2F6	chr5:177658075-177660218	K562	blood:	n/a	n/a
12	BHLHE40	chr5:177658248-177658493	K562	blood:	n/a	n/a
13	POLR2A	chr5:177656552-177660493	HepG2	liver:	n/a	n/a
14	SMC3	chr5:177658087-177658279	GM12878	blood:	n/a	n/a
15	MAX	chr5:177658020-177660034	K562	blood:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
16	MXI1	chr5:177657839-177660102	GM12878	blood:	n/a	n/a
17	POLR2A	chr5:177658250-177658457	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr5:177658200-177658482	GM12878	blood:	n/a	n/a
19	RCOR1	chr5:177657982-177658497	K562	blood:	n/a	n/a
20	POLR2A	chr5:177658021-177660213	GM15510	blood:	n/a	n/a
21	MAX	chr5:177658228-177660219	A549	lung:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
22	MAX	chr5:177657888-177660092	MCF-7	breast:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
23	POLR2A	chr5:177658083-177660606	K562	blood:	n/a	n/a
24	POLR2A	chr5:177657949-177660401	K562	blood:	n/a	n/a
25	ZNF384	chr5:177657720-177658476	K562	blood:	n/a	n/a
26	EP300	chr5:177658031-177658504	K562	blood:	n/a	n/a
27	POLR2A	chr5:177658230-177658577	HepG2	liver:	n/a	n/a
28	CEBPB	chr5:177658065-177658752	HepG2	liver:	n/a	chr5:177658233-177658246
29	MAX	chr5:177657880-177660045	K562	blood:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
30	POLR2A	chr5:177657525-177660105	Hela-S3	cervix:	n/a	n/a
31	MXI1	chr5:177657403-177660266	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr5:177657873-177658546	GM12892	blood:	n/a	n/a
33	WRNIP1	chr5:177657563-177658491	GM12878	blood:	n/a	n/a
34	POLR2A	chr5:177658259-177658278	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAFK	chr5:177658114-177658467	HepG2	liver:	n/a	n/a
36	JUN	chr5:177657564-177660508	K562	blood:	n/a	chr5:177658623-177658632
37	MAX	chr5:177658215-177660155	HepG2	liver:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
38	SMARCC1	chr5:177658076-177660275	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr5:177658204-177660166	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr5:177658001-177660350	HL-60	blood:	n/a	n/a
41	MAX	chr5:177658004-177658376	GM12878	blood:	n/a	n/a
42	POLR2A	chr5:177658260-177660137	K562	blood:	n/a	n/a
43	POLR2A	chr5:177657980-177658507	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr5:177657897-177660434	HL-60	blood:	n/a	n/a
45	MAZ	chr5:177658086-177658412	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr5:177658040-177658742	IMR90	lung:	n/a	chr5:177658233-177658246
47	POLR2A	chr5:177657839-177660301	SK-N-MC	brain:	n/a	n/a
48	MYC	chr5:177658145-177660041	K562	blood:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
49	POLR2A	chr5:177658046-177660077	MCF-7	breast:	n/a	n/a
50	MAX	chr5:177658004-177660294	Hela-S3	cervix:	n/a	chr5:177658594-177658604 chr5:177658621-177658631

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177019232..177020994-chr5:177656791..177659399,2	K562	blood:

Variant related genes	Relation type
PHYKPL	TF binding region
ENSG00000184840	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv482872	chr5:177580298-177744381	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	106 gene(s)	inside rSNPs	diseases
5	nsv1021981	chr5:177620372-177825272	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
6	nsv537967	chr5:177620372-177825272	Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
7	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1018031	chr5:177655010-177746378	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv537969	chr5:177655010-177746378	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv883195	chr5:177655194-177690539	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv883196	chr5:177655194-177690978	Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv883197	chr5:177655194-177707204	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	nsv1025291	chr5:177657927-177756215	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv537970	chr5:177657927-177756215	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177654400-177658400	Strong transcription	H9 Cell Line	embryonic stem cell
2	chr5:177655800-177658400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr5:177656200-177658400	Genic enhancers	Lung	lung
4	chr5:177656400-177658600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:177656800-177658400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:177656800-177658600	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr5:177657000-177658400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:177657000-177658600	Genic enhancers	Placenta	Placenta
9	chr5:177657200-177658400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:177657200-177658400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:177657200-177658400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
12	chr5:177657400-177658400	Genic enhancers	Thymus	Thymus
13	chr5:177657400-177658800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr5:177657400-177659200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr5:177657400-177659200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
16	chr5:177657600-177658400	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
17	chr5:177657600-177658400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
18	chr5:177657600-177658400	Transcr. at gene 5' and 3'	K562	blood
19	chr5:177657600-177658600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
20	chr5:177657600-177658600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
21	chr5:177657600-177658600	Enhancers	Fetal Heart	heart
22	chr5:177657600-177658600	Transcr. at gene 5' and 3'	A549	lung
23	chr5:177657600-177658600	Transcr. at gene 5' and 3'	NHEK	skin
24	chr5:177657600-177658800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:177657600-177658800	Flanking Active TSS	Hela-S3	cervix
26	chr5:177657600-177659000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr5:177657600-177659000	Flanking Active TSS	Liver	Liver
28	chr5:177657600-177659400	Transcr. at gene 5' and 3'	Dnd41	blood
29	chr5:177657800-177658400	Genic enhancers	Primary monocytes fromperipheralblood	blood
30	chr5:177657800-177658400	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
31	chr5:177657800-177658400	Enhancers	Ovary	ovary
32	chr5:177657800-177658400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
33	chr5:177657800-177658400	Enhancers	Small Intestine	intestine
34	chr5:177657800-177658800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:177657800-177658800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
36	chr5:177657800-177658800	Transcr. at gene 5' and 3'	Right Ventricle	heart
37	chr5:177657800-177658800	Flanking Active TSS	HepG2	liver
38	chr5:177657800-177658800	Flanking Active TSS	Osteobl	bone
39	chr5:177657800-177659000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:177657800-177659000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr5:177657800-177659200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
42	chr5:177657800-177659200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:177658000-177658400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
44	chr5:177658000-177658400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
45	chr5:177658000-177658400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
46	chr5:177658000-177658400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
47	chr5:177658000-177658400	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
48	chr5:177658000-177658400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
49	chr5:177658000-177658400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:177658000-177658400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin

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