Variant report

Variant	rs72822615
Chromosome Location	chr5:167742383-167742384
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	FOS	chr5:167741684-167742442	MCF10A-Er-Src	breast:	n/a	n/a
2	BCL3	chr5:167741647-167742693	A549	lung:	n/a	chr5:167741867-167741876
3	ARID3A	chr5:167741703-167743613	HepG2	liver:	n/a	n/a
4	REST	chr5:167741622-167742780	A549	lung:	n/a	chr5:167741934-167741954
5	CTCF	chr5:167742300-167742450	HepG2	liver:	n/a	n/a
6	ELF1	chr5:167741756-167742476	HepG2	liver:	n/a	n/a
7	STAT3	chr5:167741466-167742473	MCF10A-Er-Src	breast:	n/a	chr5:167741975-167741987 chr5:167742137-167742146 chr5:167742138-167742147
8	MAZ	chr5:167741717-167743135	IMR90	lung:	n/a	chr5:167743063-167743073
9	CTCF	chr5:167742300-167742450	NHEK	skin:	n/a	n/a
10	TEAD4	chr5:167741564-167742479	SK-N-SH	brain:	n/a	chr5:167741959-167741968
11	POLR2A	chr5:167741693-167743787	HepG2	liver:	n/a	n/a
12	MAZ	chr5:167741860-167742420	HepG2	liver:	n/a	n/a
13	CTCF	chr5:167742320-167742470	HCT-116	colon:	n/a	n/a
14	FOSL2	chr5:167741564-167742597	A549	lung:	n/a	n/a
15	FOS	chr5:167741674-167742420	MCF10A-Er-Src	breast:	n/a	n/a
16	PBX3	chr5:167741660-167742456	A549	lung:	n/a	n/a
17	NFIC	chr5:167741664-167742502	SK-N-SH	brain:	n/a	n/a
18	ZEB1	chr5:167741574-167742497	HepG2	liver:	n/a	chr5:167741913-167741920
19	MYC	chr5:167741685-167742397	MCF10A-Er-Src	breast:	n/a	n/a
20	FOXA1	chr5:167742275-167742551	T-47D	breast:	n/a	n/a
21	ETS1	chr5:167741741-167742427	A549	lung:	n/a	n/a
22	TEAD4	chr5:167741665-167742590	SK-N-SH	brain:	n/a	chr5:167741959-167741968
23	CTCF	chr5:167742260-167742410	HMF	breast:	n/a	n/a
24	JUND	chr5:167741681-167742493	SK-N-SH	brain:	n/a	n/a
25	PBX3	chr5:167741617-167742510	SK-N-SH	brain:	n/a	n/a
26	GABPA	chr5:167741677-167742422	A549	lung:	n/a	n/a
27	CTCF	chr5:167742260-167742410	HRPEpiC	eye:	n/a	n/a
28	MAX	chr5:167741499-167742632	A549	lung:	n/a	n/a
29	STAT3	chr5:167741574-167742470	MCF10A-Er-Src	breast:	n/a	chr5:167741975-167741987 chr5:167742137-167742146 chr5:167742138-167742147
30	GATA3	chr5:167741675-167742542	A549	lung:	n/a	n/a
31	ELF1	chr5:167741685-167742450	A549	lung:	n/a	n/a
32	ATF3	chr5:167741670-167742496	A549	lung:	n/a	n/a
33	PBX3	chr5:167741729-167742458	SK-N-SH	brain:	n/a	n/a
34	CTCF	chr5:167742300-167742450	HA-sp	spinal cord:	n/a	n/a
35	MBD4	chr5:167741906-167742617	HepG2	liver:	n/a	n/a
36	POLR2A	chr5:167741579-167745205	MCF10A-Er-Src	breast:	n/a	n/a
37	EP300	chr5:167741571-167742588	A549	lung:	n/a	chr5:167742042-167742056 chr5:167742181-167742195
38	CTCF	chr5:167742280-167742430	SAEC	small airway:	n/a	n/a
39	CTCF	chr5:167742260-167742410	HRE	kidney:	n/a	n/a
40	RCOR1	chr5:167741685-167742468	Hela-S3	cervix:	n/a	n/a
41	MXI1	chr5:167741661-167742515	HepG2	liver:	n/a	n/a
42	NFIC	chr5:167741680-167742503	SK-N-SH	brain:	n/a	n/a
43	TCF12	chr5:167741645-167742480	A549	lung:	n/a	chr5:167742427-167742436 chr5:167741738-167741745
44	FOXA1	chr5:167741799-167742631	HepG2	liver:	n/a	chr5:167742149-167742161
45	TCF12	chr5:167741454-167742732	A549	lung:	n/a	chr5:167742427-167742436 chr5:167741738-167741745
46	MAFF	chr5:167741816-167742518	HepG2	liver:	n/a	n/a
47	NR3C1	chr5:167741687-167742427	A549	lung:	n/a	n/a
48	TEAD4	chr5:167741472-167742450	HepG2	liver:	n/a	chr5:167741959-167741968
49	FOSL2	chr5:167741712-167742484	SK-N-SH	brain:	n/a	n/a
50	RAD21	chr5:167741559-167742514	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:167738439..167740014-chr5:167740372..167743298,2	MCF-7	breast:
2	chr5:167695818..167698583-chr5:167740233..167742676,2	MCF-7	breast:
3	chr5:167741377..167743191-chr5:167790868..167792715,2	MCF-7	breast:
4	chr5:167715928..167721153-chr5:167739241..167745348,16	MCF-7	breast:
5	chr5:167722620..167723210-chr5:167741876..167742482,2	MCF-7	breast:
6	chr5:167728707..167730873-chr5:167742044..167743599,2	MCF-7	breast:
7	chr5:167741730..167743301-chr5:167807554..167809969,2	MCF-7	breast:

Variant related genes	Relation type
WWC1	TF binding region
ENSG00000113645	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10051069	0.89[EUR][1000 genomes]
rs10475874	0.90[EUR][1000 genomes]
rs12108717	0.89[EUR][1000 genomes]
rs12514628	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12517127	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12519918	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522231	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17051843	0.89[EUR][1000 genomes]
rs17632741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72822616	0.81[EUR][1000 genomes]
rs72822619	0.81[EUR][1000 genomes]
rs72822620	0.81[EUR][1000 genomes]
rs72822623	0.81[EUR][1000 genomes]
rs72838320	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72838323	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72838333	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72838335	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs728668	0.81[EUR][1000 genomes]
rs7718390	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7721532	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv5119	chr5:167724987-167766076	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167727600-167742600	Weak transcription	Fetal Brain Female	brain
2	chr5:167734200-167746000	Enhancers	Fetal Intestine Large	intestine
3	chr5:167734400-167746600	Enhancers	Fetal Intestine Small	intestine
4	chr5:167738200-167747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:167738400-167744400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:167739400-167742800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:167739400-167745000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:167739600-167743600	Enhancers	HSMM	muscle
9	chr5:167739600-167745000	Enhancers	Pancreas	Pancrea
10	chr5:167739800-167745200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:167740000-167742800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:167740200-167742800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:167740200-167743000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:167740200-167744400	Weak transcription	Right Atrium	heart
15	chr5:167740200-167744800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:167740200-167745600	Enhancers	NH-A	brain
17	chr5:167740600-167742400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:167740600-167742600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:167740800-167744600	Enhancers	Esophagus	oesophagus
20	chr5:167740800-167744800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:167740800-167744800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:167740800-167745200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:167740800-167745200	Enhancers	Stomach Mucosa	stomach
24	chr5:167740800-167745200	Enhancers	HMEC	breast
25	chr5:167740800-167745600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:167740800-167745600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr5:167740800-167747000	Enhancers	Placenta	Placenta
28	chr5:167741000-167742600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:167741000-167742600	Enhancers	Brain Cingulate Gyrus	brain
30	chr5:167741000-167743200	Enhancers	Colonic Mucosa	Colon
31	chr5:167741000-167743400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:167741000-167744600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:167741000-167744600	Enhancers	Lung	lung
34	chr5:167741000-167745000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:167741000-167745000	Enhancers	NHDF-Ad	bronchial
36	chr5:167741000-167745200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:167741000-167745200	Enhancers	NHLF	lung
38	chr5:167741600-167742600	Flanking Active TSS	Hela-S3	cervix
39	chr5:167741600-167742800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr5:167741600-167742800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:167741600-167743800	Enhancers	Fetal Kidney	kidney
42	chr5:167741600-167743800	Flanking Active TSS	HepG2	liver
43	chr5:167741600-167744600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr5:167741600-167744600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:167741600-167744800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr5:167741600-167744800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:167741600-167745000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:167741600-167745000	Enhancers	Placenta Amnion	Placenta Amnion
49	chr5:167741600-167746000	Enhancers	Fetal Lung	lung
50	chr5:167741800-167742600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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