Variant report

Variant	rs2083968
Chromosome Location	chr5:179518681-179518682
allele	A/G
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	MAX	chr5:179517927-179518702	A549	lung:	n/a	chr5:179518154-179518165 chr5:179518155-179518164 chr5:179518155-179518164 chr5:179518146-179518162 chr5:179518154-179518164 chr5:179518154-179518165 chr5:179518156-179518163
2	E2F6	chr5:179517954-179518741	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr5:179518034-179518687	MCF-7	breast:	n/a	n/a
4	CTCF	chr5:179517273-179518684	HCT-116	colon:	n/a	chr5:179517625-179517638 chr5:179517623-179517641 chr5:179517625-179517638 chr5:179517629-179517638 chr5:179517626-179517636 chr5:179517624-179517640 chr5:179517618-179517639
5	RAD21	chr5:179517931-179518688	HCT-116	colon:	n/a	n/a
6	CTCF	chr5:179516894-179518790	A549	lung:	n/a	chr5:179517625-179517638 chr5:179517623-179517641 chr5:179517625-179517638 chr5:179517629-179517638 chr5:179517626-179517636 chr5:179517624-179517640 chr5:179517618-179517639
7	CTCF	chr5:179518609-179518757	Lung_OC	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179451009..179454455-chr5:179516109..179519066,3	MCF-7	breast:
2	chr5:179448640..179449492-chr5:179517155..179518787,5	MCF-7	breast:
3	chr5:179388366..179391138-chr5:179517585..179519806,2	K562	blood:
4	chr5:179104426..179106670-chr5:179516761..179519080,2	MCF-7	breast:
5	chr5:179495694..179500359-chr5:179515816..179519621,6	MCF-7	breast:
6	chr5:179517772..179520759-chr5:179536622..179539248,2	MCF-7	breast:
7	chr5:179518292..179520917-chr5:179894256..179896399,2	MCF-7	breast:
8	chr5:179497628..179501303-chr5:179515558..179519468,8	MCF-7	breast:
9	chr5:179505842..179508438-chr5:179517931..179520878,2	K562	blood:
10	chr5:179448515..179449607-chr5:179517585..179518817,9	MCF-7	breast:
11	chr5:179517603..179519826-chr5:179526905..179528736,2	K562	blood:
12	chr5:179447316..179449244-chr5:179516942..179519007,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253480	TF binding region
ENSG00000225051	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000113269	Chromatin interaction
ENSG00000249412	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1108361	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12522115	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12656219	0.82[AMR][1000 genomes]
rs1867449	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961583	0.81[ASN][1000 genomes]
rs2120631	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278661	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2386701	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2386704	0.81[AMR][1000 genomes]
rs34956641	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3948157	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4700706	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700707	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4700708	0.89[ASN][1000 genomes]
rs4700855	0.81[AMR][1000 genomes]
rs4700860	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4700865	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700866	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700867	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4700868	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59551526	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7724876	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7728341	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8180449	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
2	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
5	nsv830561	chr5:179365637-179537012	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
6	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179513200-179520800	Weak transcription	Spleen	Spleen
2	chr5:179517600-179519400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:179517600-179521200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:179517600-179521400	Enhancers	Primary hematopoietic stem cells	blood
5	chr5:179517800-179518800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:179517800-179518800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr5:179517800-179519400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr5:179517800-179520600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr5:179517800-179520800	Enhancers	K562	blood
10	chr5:179518200-179519000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:179518200-179519400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:179518200-179520800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:179518400-179518800	Enhancers	Duodenum Mucosa	Duodenum
14	chr5:179518400-179518800	Enhancers	Fetal Kidney	kidney
15	chr5:179518400-179519200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr5:179518400-179519200	Weak transcription	Placenta	Placenta
17	chr5:179518400-179519200	Bivalent Enhancer	HepG2	liver
18	chr5:179518400-179520000	Weak transcription	Adipose Nuclei	Adipose
19	chr5:179518400-179520000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr5:179518400-179520200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:179518400-179520200	Weak transcription	Brain Anterior Caudate	brain
22	chr5:179518400-179520600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:179518400-179520800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:179518400-179542800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:179518600-179519000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:179518600-179519000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:179518600-179519000	Weak transcription	Fetal Thymus	thymus
28	chr5:179518600-179519400	Enhancers	Liver	Liver
29	chr5:179518600-179519600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr5:179518600-179520000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr5:179518600-179520400	Weak transcription	Primary B cells from cord blood	blood
32	chr5:179518600-179520600	Enhancers	Fetal Muscle Leg	muscle
33	chr5:179518600-179522600	Weak transcription	Colon Smooth Muscle	Colon

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