Variant report

Variant	rs13157356
Chromosome Location	chr5:178287365-178287366
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	MYC	chr5:178286832-178287765	MCF-7	breast:	n/a	chr5:178287733-178287742 chr5:178287307-178287317 chr5:178287186-178287196
2	MAX	chr5:178286545-178287590	ECC-1	luminal epithelium:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
3	GATA3	chr5:178286605-178287408	A549	lung:	n/a	n/a
4	ZBTB7A	chr5:178287106-178287540	ECC-1	luminal epithelium:	n/a	n/a
5	E2F6	chr5:178286750-178287549	K562	blood:	n/a	chr5:178287094-178287103 chr5:178286852-178286863 chr5:178287013-178287023 chr5:178287161-178287171 chr5:178287342-178287352
6	CCNT2	chr5:178286759-178287496	K562	blood:	n/a	n/a
7	POLR2A	chr5:178286829-178287382	K562	blood:	n/a	n/a
8	MAX	chr5:178286470-178287605	A549	lung:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
9	MAX	chr5:178286616-178287521	A549	lung:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
10	MXI1	chr5:178286492-178287630	IMR90	lung:	n/a	n/a
11	MAX	chr5:178286623-178287434	HepG2	liver:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
12	MAX	chr5:178286398-178287503	HCT-116	colon:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
13	POLR2A	chr5:178286685-178287365	GM12892	blood:	n/a	n/a
14	POLR2A	chr5:178286630-178287462	K562	blood:	n/a	n/a
15	POLR2A	chr5:178286718-178287498	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr5:178286645-178287583	H1-hESC	embryonic stem cell:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
17	E2F6	chr5:178286697-178287582	K562	blood:	n/a	chr5:178287094-178287103 chr5:178286852-178286863 chr5:178287013-178287023 chr5:178287161-178287171 chr5:178287342-178287352 chr5:178287545-178287557 chr5:178287546-178287561
18	POLR2A	chr5:178286733-178288097	MCF-7	breast:	n/a	n/a
19	HDAC2	chr5:178286559-178287600	MCF-7	breast:	n/a	n/a
20	POLR2A	chr5:178286716-178287379	H1-neurons	neurons:	n/a	n/a
21	MXI1	chr5:178286169-178287627	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr5:178286675-178287431	ProgFib	skin:	n/a	n/a
23	MAX	chr5:178286449-178287615	HepG2	liver:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
24	MAX	chr5:178286514-178287417	HCT-116	colon:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
25	POLR2A	chr5:178286592-178287401	HepG2	liver:	n/a	n/a
26	E2F6	chr5:178286858-178287435	K562	blood:	n/a	chr5:178287094-178287103 chr5:178287013-178287023 chr5:178287161-178287171 chr5:178287342-178287352
27	SMC3	chr5:178286670-178287376	Hela-S3	cervix:	n/a	n/a
28	HCFC1	chr5:178286386-178287648	Hela-S3	cervix:	n/a	n/a
29	E2F1	chr5:178286735-178287555	Hela-S3	cervix:	n/a	chr5:178287094-178287103 chr5:178286852-178286863 chr5:178287013-178287023 chr5:178287161-178287171 chr5:178287342-178287352
30	SMARCB1	chr5:178286849-178287587	Hela-S3	cervix:	n/a	chr5:178286898-178286907
31	ZNF263	chr5:178286681-178287633	HEK293-T-REx	kidney:	n/a	chr5:178287152-178287161
32	MYC	chr5:178286615-178287458	NB4	blood:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
33	POLR2A	chr5:178286676-178287426	GM18526	blood:	n/a	n/a
34	ELF1	chr5:178286641-178287579	GM12878	blood:	n/a	chr5:178287183-178287195 chr5:178287145-178287157 chr5:178287242-178287254
35	POLR2A	chr5:178286563-178287602	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr5:178286693-178287431	GM12892	blood:	n/a	n/a
37	POLR2A	chr5:178286735-178287620	HUVEC	blood vessel:	n/a	n/a
38	SIN3AK20	chr5:178286732-178287428	SK-N-SH	brain:	n/a	n/a
39	MAX	chr5:178286616-178287604	ECC-1	luminal epithelium:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
40	HA-E2F1	chr5:178286725-178287462	Hela-S3	cervix:	n/a	chr5:178287094-178287103 chr5:178286852-178286863 chr5:178287013-178287023 chr5:178287161-178287171 chr5:178287342-178287352
41	TCF12	chr5:178286637-178287423	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr5:178286642-178287451	PFSK-1	brain:	n/a	n/a
43	MAZ	chr5:178286496-178287636	IMR90	lung:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
44	SETDB1	chr5:178286752-178287510	K562	blood:	n/a	chr5:178286931-178286955 chr5:178286896-178286920
45	MAX	chr5:178286731-178287508	K562	blood:	n/a	chr5:178287307-178287317 chr5:178287186-178287196
46	POLR2A	chr5:178286754-178287481	A549	lung:	n/a	n/a
47	MAZ	chr5:178286681-178287408	K562	blood:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
48	POLR2A	chr5:178286715-178287742	Gliobla	brain:	n/a	n/a
49	POLR2A	chr5:178286769-178287421	GM12878	blood:	n/a	n/a
50	POLR2A	chr5:178286798-178287374	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:178154802..178159439-chr5:178284936..178288781,7	MCF-7	breast:
2	chr5:178157230..178157844-chr5:178286636..178287441,3	MCF-7	breast:
3	chr5:178053391..178055177-chr5:178285758..178288394,2	MCF-7	breast:
4	chr5:178286798..178288918-chr5:178487242..178488938,2	MCF-7	breast:
5	chr5:178285646..178289279-chr5:178321547..178324884,4	MCF-7	breast:
6	chr5:178157243..178158078-chr5:178286943..178287443,2	MCF-7	breast:
7	chr5:178156014..178158845-chr5:178285994..178289826,5	MCF-7	breast:

Variant related genes	Relation type
ZNF354B	TF binding region
ENSG00000113240	Chromatin interaction
ENSG00000198939	Chromatin interaction
ENSG00000177932	Chromatin interaction
ENSG00000169131	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10050708	0.95[ASN][1000 genomes]
rs10050787	0.95[ASN][1000 genomes]
rs10077950	0.95[ASN][1000 genomes]
rs11249598	0.94[ASN][1000 genomes]
rs11746144	0.94[ASN][1000 genomes]
rs12654964	0.93[ASN][1000 genomes]
rs12655480	0.95[ASN][1000 genomes]
rs12658098	0.93[ASN][1000 genomes]
rs13153458	0.95[ASN][1000 genomes]
rs13157348	0.82[EUR][1000 genomes]
rs13168290	0.95[ASN][1000 genomes]
rs13185338	0.95[ASN][1000 genomes]
rs34489756	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3922929	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6858885	0.92[ASN][1000 genomes]
rs6859072	0.95[ASN][1000 genomes]
rs6864114	0.95[ASN][1000 genomes]
rs6869746	0.95[ASN][1000 genomes]
rs6869885	0.92[ASN][1000 genomes]
rs6870086	0.95[ASN][1000 genomes]
rs6870961	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6874387	0.95[ASN][1000 genomes]
rs6875162	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6877198	0.95[ASN][1000 genomes]
rs6878261	0.95[ASN][1000 genomes]
rs6889589	0.95[ASN][1000 genomes]
rs6891035	0.89[ASN][1000 genomes]
rs6898983	0.95[ASN][1000 genomes]
rs7445694	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7446225	0.90[ASN][1000 genomes]
rs7447547	0.95[ASN][1000 genomes]
rs7710019	0.95[ASN][1000 genomes]
rs7716970	0.95[ASN][1000 genomes]
rs7723868	0.95[ASN][1000 genomes]
rs9329056	0.95[ASN][1000 genomes]
rs9329057	0.95[ASN][1000 genomes]
rs9329058	0.95[ASN][1000 genomes]
rs9716846	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883218	chr5:178219855-178349391	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv462574	chr5:178269682-178313078	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv600463	chr5:178269682-178313078	Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv823352	chr5:178279625-178296623	Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 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	chr5:178286000-178287600	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr5:178286000-178288400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:178286200-178287600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:178286200-178287600	Active TSS	Stomach Mucosa	stomach
5	chr5:178286200-178287600	Active TSS	A549	lung
6	chr5:178286200-178287800	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:178286400-178287400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr5:178286400-178287600	Active TSS	Liver	Liver
9	chr5:178286400-178287600	Active TSS	GM12878-XiMat	blood
10	chr5:178286400-178287800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:178286400-178287800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:178286400-178287800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:178286400-178287800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr5:178286400-178287800	Active TSS	Brain Anterior Caudate	brain
15	chr5:178286400-178287800	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr5:178286400-178288200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:178286400-178288400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr5:178286400-178288400	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr5:178286400-178288400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:178286400-178288400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:178286400-178288400	Active TSS	HepG2	liver
22	chr5:178286400-178288400	Active TSS	NHDF-Ad	bronchial
23	chr5:178286600-178287400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr5:178286600-178287400	Active TSS	H1 Cell Line	embryonic stem cell
25	chr5:178286600-178287600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:178286600-178287600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:178286600-178287600	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr5:178286600-178287600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:178286600-178287600	Active TSS	Primary monocytes fromperipheralblood	blood
30	chr5:178286600-178287600	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr5:178286600-178287600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:178286600-178287600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:178286600-178287600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:178286600-178287600	Active TSS	Aorta	Aorta
35	chr5:178286600-178287600	Active TSS	Brain Cingulate Gyrus	brain
36	chr5:178286600-178287600	Active TSS	Brain Hippocampus Middle	brain
37	chr5:178286600-178287600	Active TSS	Brain Substantia Nigra	brain
38	chr5:178286600-178287600	Active TSS	Colonic Mucosa	Colon
39	chr5:178286600-178287600	Active TSS	Colon Smooth Muscle	Colon
40	chr5:178286600-178287600	Active TSS	Esophagus	oesophagus
41	chr5:178286600-178287600	Active TSS	Fetal Lung	lung
42	chr5:178286600-178287600	Active TSS	Fetal Stomach	stomach
43	chr5:178286600-178287600	Active TSS	Fetal Thymus	thymus
44	chr5:178286600-178287600	Active TSS	Gastric	stomach
45	chr5:178286600-178287600	Active TSS	Left Ventricle	heart
46	chr5:178286600-178287600	Active TSS	Psoas Muscle	Psoas
47	chr5:178286600-178287600	Active TSS	K562	blood
48	chr5:178286600-178287600	Active TSS	NHEK	skin
49	chr5:178286600-178287800	Active TSS	H9 Cell Line	embryonic stem cell
50	chr5:178286600-178287800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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