Variant report

Variant	rs2913857
Chromosome Location	chr5:177660081-177660082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:129)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:129 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:177659212-177660093	SK-N-SH	brain:	n/a	n/a
2	SMC3	chr5:177658943-177660149	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr5:177658951-177660123	K562	blood:	n/a	n/a
4	MXI1	chr5:177658286-177660241	Hela-S3	cervix:	n/a	n/a
5	GTF2F1	chr5:177659240-177660183	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr5:177659191-177660141	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr5:177658603-177660497	GM12878	blood:	n/a	n/a
8	GABPA	chr5:177659119-177660087	MCF-7	breast:	n/a	n/a
9	ELF1	chr5:177658701-177660260	MCF-7	breast:	n/a	n/a
10	POLR2A	chr5:177658872-177660281	GM18951	blood:	n/a	n/a
11	POLR2A	chr5:177658787-177660212	GM12878	blood:	n/a	n/a
12	CTCF	chr5:177659943-177660224	K562	blood:	n/a	n/a
13	POLR2A	chr5:177659199-177660084	HepG2	liver:	n/a	n/a
14	POLR2A	chr5:177659437-177660104	GM12891	blood:	n/a	n/a
15	POLR2A	chr5:177658800-177660334	MCF10A-Er-Src	breast:	n/a	n/a
16	MAX	chr5:177658204-177660356	HepG2	liver:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
17	POLR2A	chr5:177659068-177660161	K562	blood:	n/a	n/a
18	POLR2A	chr5:177658156-177660670	GM18505	blood:	n/a	n/a
19	IRF1	chr5:177659167-177660126	K562	blood:	n/a	chr5:177659889-177659903
20	CREB1	chr5:177658724-177660160	HepG2	liver:	n/a	n/a
21	SMARCB1	chr5:177658048-177660271	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr5:177659190-177660138	NB4	blood:	n/a	n/a
23	POLR2A	chr5:177659210-177660091	HepG2	liver:	n/a	n/a
24	POLR2A	chr5:177659059-177660093	MCF-7	breast:	n/a	n/a
25	E2F6	chr5:177658075-177660218	K562	blood:	n/a	n/a
26	POLR2A	chr5:177656552-177660493	HepG2	liver:	n/a	n/a
27	MXI1	chr5:177657839-177660102	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:177658790-177660157	GM12878	blood:	n/a	n/a
29	CTCF	chr5:177660040-177660190	HL-60	blood:	n/a	n/a
30	PML	chr5:177658940-177660212	GM12878	blood:	n/a	chr5:177659940-177659948
31	POLR2A	chr5:177659016-177660290	HUVEC	blood vessel:	n/a	n/a
32	BHLHE40	chr5:177659243-177660128	HepG2	liver:	n/a	chr5:177659901-177659917
33	POLR2A	chr5:177658021-177660213	GM15510	blood:	n/a	n/a
34	POLR2A	chr5:177658948-177660359	GM19193	blood:	n/a	n/a
35	ELF1	chr5:177659124-177660110	GM12878	blood:	n/a	n/a
36	ZNF143	chr5:177659595-177660126	K562	blood:	n/a	chr5:177659897-177659915
37	MAX	chr5:177658228-177660219	A549	lung:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
38	MAX	chr5:177657888-177660092	MCF-7	breast:	n/a	chr5:177658594-177658604 chr5:177658621-177658631
39	POLR2A	chr5:177658083-177660606	K562	blood:	n/a	n/a
40	POLR2A	chr5:177657949-177660401	K562	blood:	n/a	n/a
41	ZC3H11A	chr5:177659590-177660115	K562	blood:	n/a	n/a
42	TBL1XR1	chr5:177659599-177660090	K562	blood:	n/a	n/a
43	POLR2A	chr5:177659003-177660119	HCT-116	colon:	n/a	n/a
44	POLR2A	chr5:177658770-177660246	GM12892	blood:	n/a	n/a
45	POLR2A	chr5:177658812-177660172	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr5:177659042-177660136	HepG2	liver:	n/a	n/a
47	STAT1	chr5:177659601-177660150	GM12878	blood:	n/a	chr5:177659864-177659884 chr5:177659870-177659879 chr5:177659869-177659878 chr5:177659864-177659884 chr5:177659868-177659879 chr5:177659870-177659878
48	POLR2A	chr5:177658957-177660403	IMR90	lung:	n/a	n/a
49	BHLHE40	chr5:177658902-177660468	K562	blood:	n/a	chr5:177659901-177659917
50	ZBTB7A	chr5:177658907-177660144	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177660036-177660086	SKMC	muscle:	n/a
2	chr5:177660036-177660086	PrEC	prostate:	n/a
3	chr5:177660036-177660086	NHDF-neo	bronchial:	n/a
4	chr5:177660036-177660086	SK-N-MC	brain:	n/a
5	chr5:177660036-177660086	BJ	skin:	n/a
6	chr5:177660036-177660086	MCF-7	breast:	n/a
7	chr5:177660036-177660086	AG10803	skin:	n/a
8	chr5:177660036-177660086	K562	blood:	n/a
9	chr5:177660036-177660086	HRCEpiC	kidney:	n/a
10	chr5:177660036-177660086	AG04449	skin:	fetal
11	chr5:177660036-177660086	T-47D	breast:	n/a
12	chr5:177660036-177660086	NHBE	bronchial:	n/a
13	chr5:177660036-177660086	Hepatocyte	liver:	n/a
14	chr5:177660036-177660086	AG09319	gingival:	n/a
15	chr5:177660036-177660086	HRE	kidney:	n/a
16	chr5:177660036-177660086	LNCaP	prostate:	n/a
17	chr5:177660036-177660086	SK-N-SH	brain:	n/a
18	chr5:177660036-177660086	U87	brain:	n/a
19	chr5:177660036-177660086	HNPCEpiC	eye:	n/a
20	chr5:177660036-177660086	HMEC	breast:	n/a
21	chr5:177660036-177660086	NT2-D1	testis:	n/a
22	chr5:177660036-177660086	SAEC	small airway:	n/a
23	chr5:177660036-177660086	GM12878	blood:	n/a
24	chr5:177660036-177660086	HEK293	kidney:	embryo
25	chr5:177660036-177660086	NB4	blood:	n/a
26	chr5:177660036-177660086	HUVEC	blood vessel:	n/a
27	chr5:177660036-177660086	HRPEpiC	eye:	n/a
28	chr5:177660036-177660086	HCPEpiC	choroid plexus:	n/a
29	chr5:177660036-177660086	RPTEC	kidney:	n/a
30	chr5:177660036-177660086	Hela-S3	cervix:	n/a
31	chr5:177660036-177660086	CMK	blood:	n/a
32	chr5:177660036-177660086	Caco-2	colon:	n/a
33	chr5:177660036-177660086	ovcar-3	ovarian:	n/a
34	chr5:177660036-177660086	HepG2	liver:	n/a
35	chr5:177660036-177660086	HCF	heart:	n/a
36	chr5:177660036-177660086	MCF10A-Er-Src	breast:	n/a
37	chr5:177660036-177660086	ProgFib	skin:	n/a
38	chr5:177660036-177660086	AG09309	skin:	n/a
39	chr5:177660036-177660086	HL-60	blood:	n/a
40	chr5:177660036-177660086	H1-hESC	embryonic stem cell:	embryo
41	chr5:177660036-177660086	AoSMC	blood vessel:	n/a
42	chr5:177660036-177660086	HIPEpiC	eye:	n/a
43	chr5:177660036-177660086	GM12892	blood:	n/a
44	chr5:177660036-177660086	HCT-116	colon:	n/a
45	chr5:177660036-177660086	GM19239	blood:	n/a
46	chr5:177660036-177660086	Jurkat	blood:	n/a
47	chr5:177660036-177660086	HCM	heart:	n/a
48	chr5:177660036-177660086	GM06990	blood:	n/a
49	chr5:177660036-177660086	AG04450	lung:	fetal
50	chr5:177660036-177660086	PANC-1	pancreas:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177659189..177660088-chr5:178017540..178018315,2	K562	blood:
2	chr5:177659087..177660769-chr5:178052015..178054177,2	K562	blood:
3	chr5:177659880..177662371-chr5:178030366..178033143,2	K562	blood:
4	chr5:177613072..177615957-chr5:177659065..177661764,2	MCF-7	breast:

No data

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

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1544926	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2913855	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2913858	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2913859	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2913860	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2973807	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs890811	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]

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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177658400-177660200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr5:177658400-177660400	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr5:177658600-177660200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr5:177658600-177660200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:177658600-177660200	Active TSS	HSMM	muscle
6	chr5:177658600-177660400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:177658600-177660400	Active TSS	Fetal Kidney	kidney
8	chr5:177658600-177660400	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr5:177658800-177660200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:177658800-177660200	Active TSS	Ovary	ovary
11	chr5:177658800-177660200	Active TSS	Osteobl	bone
12	chr5:177658800-177660400	Active TSS	HSMMtube	muscle
13	chr5:177659000-177660200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:177659000-177660200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr5:177659000-177660200	Active TSS	Left Ventricle	heart
16	chr5:177659000-177660200	Active TSS	NHLF	lung
17	chr5:177659000-177660400	Active TSS	Primary T cells from cord blood	blood
18	chr5:177659000-177660400	Active TSS	Duodenum Mucosa	Duodenum
19	chr5:177659000-177660400	Active TSS	Fetal Lung	lung
20	chr5:177659200-177660200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:177659200-177660200	Active TSS	Fetal Brain Female	brain
22	chr5:177659200-177660200	Active TSS	NHEK	skin
23	chr5:177659200-177660400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:177659200-177660400	Enhancers	Fetal Brain Male	brain
25	chr5:177659400-177660400	Enhancers	Stomach Mucosa	stomach
26	chr5:177659600-177660200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:177659600-177660200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr5:177659600-177660200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:177659600-177660200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:177659600-177660200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:177659600-177660400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:177659600-177660400	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr5:177659800-177660200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:177659800-177660200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr5:177659800-177660200	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr5:177659800-177660200	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr5:177659800-177660200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr5:177659800-177660200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:177659800-177660200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr5:177659800-177660200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr5:177659800-177660200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr5:177659800-177660200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:177659800-177660200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr5:177659800-177660200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:177659800-177660200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr5:177659800-177660200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr5:177659800-177660200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr5:177659800-177660200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:177659800-177660200	Flanking Active TSS	Colonic Mucosa	Colon
50	chr5:177659800-177660200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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