Variant report

Variant	rs576257357
Chromosome Location	chr5:177659295-177659296
allele	C/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	PML	chr5:177659125-177659516	K562	blood:	n/a	n/a
2	CTCF	chr5:177659260-177659410	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr5:177659212-177660093	SK-N-SH	brain:	n/a	n/a
4	SMC3	chr5:177658943-177660149	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr5:177658951-177660123	K562	blood:	n/a	n/a
6	MXI1	chr5:177658286-177660241	Hela-S3	cervix:	n/a	n/a
7	TCF12	chr5:177659095-177660077	A549	lung:	n/a	n/a
8	GTF2F1	chr5:177659240-177660183	Hela-S3	cervix:	n/a	n/a
9	MAX	chr5:177658757-177659980	K562	blood:	n/a	n/a
10	POLR2A	chr5:177659191-177660141	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr5:177658603-177660497	GM12878	blood:	n/a	n/a
12	REST	chr5:177659222-177659883	A549	lung:	n/a	n/a
13	CEBPB	chr5:177658050-177659845	Hela-S3	cervix:	n/a	chr5:177658233-177658246
14	POLR2A	chr5:177659125-177659984	SK-N-SH	brain:	n/a	n/a
15	RAD21	chr5:177659166-177659370	K562	blood:	n/a	n/a
16	GABPA	chr5:177659119-177660087	MCF-7	breast:	n/a	n/a
17	ELF1	chr5:177658701-177660260	MCF-7	breast:	n/a	n/a
18	POLR2A	chr5:177658872-177660281	GM18951	blood:	n/a	n/a
19	POLR2A	chr5:177658787-177660212	GM12878	blood:	n/a	n/a
20	TBP	chr5:177659238-177659831	HepG2	liver:	n/a	n/a
21	MAX	chr5:177658743-177660056	NB4	blood:	n/a	n/a
22	SMC3	chr5:177659027-177659332	K562	blood:	n/a	n/a
23	POLR2A	chr5:177659199-177660084	HepG2	liver:	n/a	n/a
24	ZBTB7A	chr5:177658878-177659415	K562	blood:	n/a	n/a
25	SP1	chr5:177659258-177659948	A549	lung:	n/a	chr5:177659893-177659902 chr5:177659892-177659901 chr5:177659892-177659901 chr5:177659892-177659902 chr5:177659891-177659903 chr5:177659891-177659903
26	POLR2A	chr5:177658800-177660334	MCF10A-Er-Src	breast:	n/a	n/a
27	ZNF263	chr5:177656888-177659341	HEK293-T-REx	kidney:	n/a	n/a
28	HEY1	chr5:177658938-177659981	K562	blood:	n/a	n/a
29	MAX	chr5:177658204-177660356	HepG2	liver:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
30	MAX	chr5:177658605-177659994	ECC-1	luminal epithelium:	n/a	chr5:177658621-177658631
31	POLR2A	chr5:177659068-177660161	K562	blood:	n/a	n/a
32	CTCF	chr5:177659160-177659333	GM19239	blood:	n/a	n/a
33	POLR2A	chr5:177658156-177660670	GM18505	blood:	n/a	n/a
34	IRF1	chr5:177659167-177660126	K562	blood:	n/a	chr5:177659889-177659903
35	CREB1	chr5:177658724-177660160	HepG2	liver:	n/a	n/a
36	SMARCB1	chr5:177658048-177660271	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr5:177658760-177659863	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr5:177659200-177659350	GM12878	blood:	n/a	n/a
39	POLR2A	chr5:177659218-177659471	HepG2	liver:	n/a	n/a
40	CTCF	chr5:177659169-177659318	K562	blood:	n/a	n/a
41	SIN3AK20	chr5:177659040-177659942	PANC-1	pancreas:	n/a	n/a
42	YY1	chr5:177659253-177659738	GM12891	blood:	n/a	n/a
43	NRF1	chr5:177659077-177659586	GM12878	blood:	n/a	n/a
44	POLR2A	chr5:177659190-177660138	NB4	blood:	n/a	n/a
45	ZNF143	chr5:177659114-177659389	GM12878	blood:	n/a	n/a
46	POLR2A	chr5:177658828-177660078	PFSK-1	brain:	n/a	n/a
47	CBX3	chr5:177658924-177659313	K562	blood:	n/a	n/a
48	POLR2A	chr5:177659210-177660091	HepG2	liver:	n/a	n/a
49	JUND	chr5:177659255-177659437	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr5:177659190-177660007	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:177659189..177660088-chr5:178017540..178018315,2	K562	blood:
2	chr5:177019232..177020994-chr5:177656791..177659399,2	K562	blood:
3	chr5:177659087..177660769-chr5:178052015..178054177,2	K562	blood:
4	chr5:177613072..177615957-chr5:177659065..177661764,2	MCF-7	breast:

Variant related genes	Relation type
PHYKPL	TF binding region
ENSG00000113240	Chromatin interaction
ENSG00000244234	Chromatin interaction
ENSG00000184840	Chromatin interaction
ENSG00000050767	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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
16	esv3441517	chr5:177658571-177661119	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	nsv527792	chr5:177659075-177675217	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	nsv883198	chr5:177659075-177690539	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 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	chr5:177657600-177659400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr5:177658000-177659400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:177658200-177659800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:177658200-177660000	Flanking Active TSS	HMEC	breast
5	chr5:177658400-177659400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:177658400-177659400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr5:177658400-177660200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr5:177658400-177660400	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr5:177658600-177659800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr5:177658600-177660000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr5:177658600-177660000	Active TSS	GM12878-XiMat	blood
12	chr5:177658600-177660200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr5:177658600-177660200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr5:177658600-177660200	Active TSS	HSMM	muscle
15	chr5:177658600-177660400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:177658600-177660400	Active TSS	Fetal Kidney	kidney
17	chr5:177658600-177660400	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr5:177658800-177659400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:177658800-177659800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr5:177658800-177659800	Transcr. at gene 5' and 3'	Right Atrium	heart
21	chr5:177658800-177659800	Active TSS	HepG2	liver
22	chr5:177658800-177660000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr5:177658800-177660000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr5:177658800-177660000	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr5:177658800-177660000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:177658800-177660000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:177658800-177660000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr5:177658800-177660000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:177658800-177660000	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr5:177658800-177660000	Active TSS	Brain Angular Gyrus	brain
31	chr5:177658800-177660000	Active TSS	Brain Substantia Nigra	brain
32	chr5:177658800-177660000	Active TSS	Colon Smooth Muscle	Colon
33	chr5:177658800-177660000	Active TSS	Fetal Intestine Large	intestine
34	chr5:177658800-177660000	Active TSS	Psoas Muscle	Psoas
35	chr5:177658800-177660000	Active TSS	Small Intestine	intestine
36	chr5:177658800-177660000	Active TSS	A549	lung
37	chr5:177658800-177660000	Active TSS	Hela-S3	cervix
38	chr5:177658800-177660000	Active TSS	NHDF-Ad	bronchial
39	chr5:177658800-177660200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:177658800-177660200	Active TSS	Ovary	ovary
41	chr5:177658800-177660200	Active TSS	Osteobl	bone
42	chr5:177658800-177660400	Active TSS	HSMMtube	muscle
43	chr5:177659000-177659400	Active TSS	Stomach Mucosa	stomach
44	chr5:177659000-177659600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:177659000-177659800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr5:177659000-177659800	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr5:177659000-177659800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr5:177659000-177659800	Active TSS	Muscle Satellite Cultured Cells	--
49	chr5:177659000-177659800	Active TSS	Brain Germinal Matrix	brain
50	chr5:177659000-177659800	Active TSS	Fetal Heart	heart

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