Variant report

Variant	rs7446382
Chromosome Location	chr5:178287009-178287010
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	BCLAF1	chr5:178286652-178287189	GM12878	blood:	n/a	n/a
2	MYC	chr5:178286832-178287765	MCF-7	breast:	n/a	chr5:178287733-178287742 chr5:178287307-178287317 chr5:178287186-178287196
3	STAT3	chr5:178286683-178287061	MCF10A-Er-Src	breast:	n/a	chr5:178286890-178286913 chr5:178286905-178286913
4	HCFC1	chr5:178286549-178287364	K562	blood:	n/a	n/a
5	POLR2A	chr5:178286676-178287287	HepG2	liver:	n/a	n/a
6	CTCF	chr5:178286880-178287030	AG09309	skin:	n/a	n/a
7	POLR2A	chr5:178286688-178287344	K562	blood:	n/a	n/a
8	FOS	chr5:178286595-178287166	MCF10A-Er-Src	breast:	n/a	n/a
9	MAX	chr5:178286545-178287590	ECC-1	luminal epithelium:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
10	TAF1	chr5:178286756-178287132	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr5:178286678-178287294	HUVEC	blood vessel:	n/a	n/a
12	CTCF	chr5:178286860-178287010	HCM	heart:	n/a	n/a
13	ELF1	chr5:178286631-178287257	HepG2	liver:	n/a	chr5:178287183-178287195 chr5:178287145-178287157 chr5:178287242-178287254
14	RAD21	chr5:178286736-178287045	SK-N-SH_RA	brain:	n/a	chr5:178286769-178286781
15	CTCF	chr5:178286940-178287090	HCT-116	colon:	n/a	n/a
16	YY1	chr5:178286609-178287243	H1-hESC	embryonic stem cell:	n/a	chr5:178287006-178287020 chr5:178287188-178287197 chr5:178287160-178287174
17	GATA3	chr5:178286605-178287408	A549	lung:	n/a	n/a
18	CTCF	chr5:178286880-178287030	AG04449	skin:	n/a	n/a
19	IRF1	chr5:178286556-178287200	K562	blood:	n/a	n/a
20	ELF1	chr5:178286672-178287168	HepG2	liver:	n/a	chr5:178287145-178287157
21	POLR2A	chr5:178286717-178287333	MCF-7	breast:	n/a	n/a
22	USF1	chr5:178286785-178287189	K562	blood:	n/a	n/a
23	GABPA	chr5:178286599-178287231	MCF-7	breast:	n/a	chr5:178287214-178287223
24	RUNX3	chr5:178286689-178287299	GM12878	blood:	n/a	n/a
25	CTCF	chr5:178286860-178287010	SK-N-SH_RA	brain:	n/a	n/a
26	POLR2A	chr5:178286552-178287265	HCT-116	colon:	n/a	n/a
27	CHD1	chr5:178286816-178287274	GM12878	blood:	n/a	n/a
28	CHD2	chr5:178286820-178287177	K562	blood:	n/a	n/a
29	CTCFL	chr5:178286882-178287128	K562	blood:	n/a	n/a
30	MAX	chr5:178286674-178287348	H1-hESC	embryonic stem cell:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
31	MYC	chr5:178286676-178287245	K562	blood:	n/a	chr5:178287186-178287196 chr5:178286729-178286738
32	TAF1	chr5:178286729-178287180	PFSK-1	brain:	n/a	n/a
33	E2F6	chr5:178286750-178287549	K562	blood:	n/a	chr5:178287094-178287103 chr5:178286852-178286863 chr5:178287013-178287023 chr5:178287161-178287171 chr5:178287342-178287352
34	CTCF	chr5:178286860-178287010	AG10803	skin:	n/a	n/a
35	SIN3A	chr5:178286659-178287262	GM12878	blood:	n/a	n/a
36	CCNT2	chr5:178286759-178287496	K562	blood:	n/a	n/a
37	TCF12	chr5:178286738-178287087	GM12878	blood:	n/a	n/a
38	CTCF	chr5:178286860-178287010	GM12873	blood:	n/a	n/a
39	POLR2A	chr5:178286847-178287178	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr5:178286803-178287207	HepG2	liver:	n/a	n/a
41	POLR2A	chr5:178286829-178287382	K562	blood:	n/a	n/a
42	CTCF	chr5:178286940-178287090	Caco-2	colon:	n/a	n/a
43	CTCF	chr5:178286665-178287220	GM12878	blood:	n/a	chr5:178287151-178287164
44	BRCA1	chr5:178286778-178287148	Hela-S3	cervix:	n/a	n/a
45	RAD21	chr5:178286644-178287132	IMR90	lung:	n/a	chr5:178286769-178286781
46	GABPA	chr5:178286561-178287342	MCF-7	breast:	n/a	chr5:178287325-178287334 chr5:178287214-178287223
47	ELF1	chr5:178286667-178287227	K562	blood:	n/a	chr5:178287183-178287195 chr5:178287145-178287157
48	MAX	chr5:178286470-178287605	A549	lung:	n/a	chr5:178287307-178287317 chr5:178287186-178287196 chr5:178286729-178286738
49	CTCF	chr5:178286920-178287070	HMF	breast:	n/a	n/a
50	CREB1	chr5:178286710-178287214	A549	lung:	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
ENSG00000198939	Chromatin interaction
ENSG00000177932	Chromatin interaction
ENSG00000169131	Chromatin interaction
ENSG00000113240	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10073016	0.97[AFR][1000 genomes]
rs10080080	0.91[AFR][1000 genomes]
rs10479514	0.97[AFR][1000 genomes]
rs12654454	0.82[ASN][1000 genomes]
rs35030686	0.82[ASN][1000 genomes]
rs62393041	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62393043	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62393044	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62393045	0.84[EUR][1000 genomes];1.00[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	chr5:178286400-178287200	Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr5:178286400-178287400	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr5:178286400-178287600	Active TSS	Liver	Liver
10	chr5:178286400-178287600	Active TSS	GM12878-XiMat	blood
11	chr5:178286400-178287800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:178286400-178287800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:178286400-178287800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:178286400-178287800	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr5:178286400-178287800	Active TSS	Brain Anterior Caudate	brain
16	chr5:178286400-178287800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr5:178286400-178288200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:178286400-178288400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr5:178286400-178288400	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr5:178286400-178288400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:178286400-178288400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:178286400-178288400	Active TSS	HepG2	liver
23	chr5:178286400-178288400	Active TSS	NHDF-Ad	bronchial
24	chr5:178286600-178287200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr5:178286600-178287400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr5:178286600-178287400	Active TSS	H1 Cell Line	embryonic stem cell
27	chr5:178286600-178287600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:178286600-178287600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:178286600-178287600	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr5:178286600-178287600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:178286600-178287600	Active TSS	Primary monocytes fromperipheralblood	blood
32	chr5:178286600-178287600	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr5:178286600-178287600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:178286600-178287600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:178286600-178287600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:178286600-178287600	Active TSS	Aorta	Aorta
37	chr5:178286600-178287600	Active TSS	Brain Cingulate Gyrus	brain
38	chr5:178286600-178287600	Active TSS	Brain Hippocampus Middle	brain
39	chr5:178286600-178287600	Active TSS	Brain Substantia Nigra	brain
40	chr5:178286600-178287600	Active TSS	Colonic Mucosa	Colon
41	chr5:178286600-178287600	Active TSS	Colon Smooth Muscle	Colon
42	chr5:178286600-178287600	Active TSS	Esophagus	oesophagus
43	chr5:178286600-178287600	Active TSS	Fetal Lung	lung
44	chr5:178286600-178287600	Active TSS	Fetal Stomach	stomach
45	chr5:178286600-178287600	Active TSS	Fetal Thymus	thymus
46	chr5:178286600-178287600	Active TSS	Gastric	stomach
47	chr5:178286600-178287600	Active TSS	Left Ventricle	heart
48	chr5:178286600-178287600	Active TSS	Psoas Muscle	Psoas
49	chr5:178286600-178287600	Active TSS	K562	blood
50	chr5:178286600-178287600	Active TSS	NHEK	skin

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