Variant report

Variant	rs1867449
Chromosome Location	chr5:179518159-179518160
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	RAD21	chr5:179518092-179518647	A549	lung:	n/a	n/a
2	MAX	chr5:179517924-179518659	MCF-7	breast:	n/a	chr5:179518154-179518165 chr5:179518155-179518164 chr5:179518155-179518164 chr5:179518146-179518162 chr5:179518154-179518164 chr5:179518154-179518165 chr5:179518156-179518163
3	ZNF384	chr5:179516981-179518459	K562	blood:	n/a	n/a
4	MAX	chr5:179518003-179518529	H1-hESC	embryonic stem cell:	n/a	chr5:179518154-179518165 chr5:179518155-179518164 chr5:179518155-179518164 chr5:179518146-179518162 chr5:179518154-179518164 chr5:179518154-179518165 chr5:179518156-179518163
5	MAFK	chr5:179518142-179518355	K562	blood:	n/a	n/a
6	MAX	chr5:179517952-179518558	H1-hESC	embryonic stem cell:	n/a	chr5:179518154-179518165 chr5:179518155-179518164 chr5:179518155-179518164 chr5:179518146-179518162 chr5:179518154-179518164 chr5:179518154-179518165 chr5:179518156-179518163
7	KAP1	chr5:179518149-179518636	U2OS	brain:	n/a	n/a
8	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
9	E2F6	chr5:179518038-179518554	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F6	chr5:179518113-179518469	A549	lung:	n/a	n/a
11	E2F6	chr5:179517927-179518568	A549	lung:	n/a	n/a
12	E2F6	chr5:179517954-179518741	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr5:179518034-179518687	MCF-7	breast:	n/a	n/a
14	TAF1	chr5:179518111-179518486	H1-hESC	embryonic stem cell:	n/a	n/a
15	ZNF143	chr5:179518125-179518443	K562	blood:	n/a	n/a
16	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
17	EGR1	chr5:179517228-179518313	HCT-116	colon:	n/a	chr5:179517599-179517612 chr5:179517598-179517613 chr5:179517599-179517613 chr5:179517605-179517612 chr5:179517599-179517612 chr5:179517600-179517614 chr5:179517601-179517611 chr5:179517600-179517611
18	CTCF	chr5:179518155-179518670	MCF-7	breast:	n/a	n/a
19	SMC3	chr5:179518092-179518557	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr5:179518040-179518190	AG10803	skin:	n/a	n/a
21	RFX5	chr5:179518157-179518496	Hela-S3	cervix:	n/a	n/a
22	TCF12	chr5:179517909-179518533	A549	lung:	n/a	n/a
23	CTCF	chr5:179518060-179518210	GM12871	blood:	n/a	n/a
24	RAD21	chr5:179518022-179518603	MCF-7	breast:	n/a	n/a
25	HDAC2	chr5:179518154-179518462	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr5:179518080-179518230	HAc	cerebellar:	n/a	n/a
27	CTCF	chr5:179518143-179518562	HepG2	liver:	n/a	n/a
28	CTCF	chr5:179518083-179518601	H1-hESC	embryonic stem cell:	n/a	n/a
29	RAD21	chr5:179518132-179518560	SK-N-SH_RA	brain:	n/a	n/a
30	RAD21	chr5:179517943-179518663	HCT-116	colon:	n/a	n/a
31	MAX	chr5:179517976-179518504	K562	blood:	n/a	chr5:179518154-179518165 chr5:179518155-179518164 chr5:179518155-179518164 chr5:179518146-179518162 chr5:179518154-179518164 chr5:179518154-179518165 chr5:179518156-179518163
32	MAX	chr5:179517951-179518639	H1-hESC	embryonic stem cell:	n/a	chr5:179518154-179518165 chr5:179518155-179518164 chr5:179518155-179518164 chr5:179518146-179518162 chr5:179518154-179518164 chr5:179518154-179518165 chr5:179518156-179518163
33	RAD21	chr5:179518144-179518529	HepG2	liver:	n/a	n/a
34	RAD21	chr5:179518087-179518636	MCF-7	breast:	n/a	n/a
35	NANOG	chr5:179518141-179518563	H1-hESC	embryonic stem cell:	n/a	n/a
36	GTF3C2	chr5:179517460-179518527	K562	blood:	n/a	n/a
37	RAD21	chr5:179517931-179518688	HCT-116	colon:	n/a	n/a
38	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
39	MAX	chr5:179517942-179518644	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
40	RAD21	chr5:179518087-179518569	H1-hESC	embryonic stem cell:	n/a	n/a
41	RAD21	chr5:179518153-179518563	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr5:179518149-179518531	NB4	blood:	n/a	chr5:179518154-179518165 chr5:179518155-179518164 chr5:179518155-179518164 chr5:179518154-179518164 chr5:179518154-179518165 chr5:179518156-179518163

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	chr5:179512072..179514458-chr5:179515699..179518441,2	MCF-7	breast:
5	chr5:179104426..179106670-chr5:179516761..179519080,2	MCF-7	breast:
6	chr5:179492115..179494311-chr5:179517115..179518627,2	MCF-7	breast:
7	chr5:179495694..179500359-chr5:179515816..179519621,6	MCF-7	breast:
8	chr5:179517772..179520759-chr5:179536622..179539248,2	MCF-7	breast:
9	chr5:179497628..179501303-chr5:179515558..179519468,8	MCF-7	breast:
10	chr5:179505842..179508438-chr5:179517931..179520878,2	K562	blood:
11	chr5:179448515..179449607-chr5:179517585..179518817,9	MCF-7	breast:
12	chr5:179517603..179519826-chr5:179526905..179528736,2	K562	blood:
13	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
ENSG00000249412	Chromatin interaction
ENSG00000253480	Chromatin interaction
ENSG00000113269	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1108361	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12522115	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961583	0.81[ASN][1000 genomes]
rs2083968	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2120631	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278661	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2386701	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34956641	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3948157	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4700706	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700707	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4700708	0.89[ASN][1000 genomes]
rs4700860	0.82[ASN][1000 genomes]
rs4700865	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700866	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700867	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4700868	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59551526	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7724876	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7728341	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8180449	0.93[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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179513200-179520800	Weak transcription	Spleen	Spleen
2	chr5:179516800-179518200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr5:179516800-179518200	Active TSS	NH-A	brain
4	chr5:179517000-179518200	Active TSS	Brain Anterior Caudate	brain
5	chr5:179517000-179518200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr5:179517000-179518400	Active TSS	Fetal Kidney	kidney
7	chr5:179517400-179518200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:179517600-179518200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:179517600-179518200	Weak transcription	NHDF-Ad	bronchial
10	chr5:179517600-179518400	Weak transcription	Esophagus	oesophagus
11	chr5:179517600-179518400	Enhancers	Dnd41	blood
12	chr5:179517600-179518600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:179517600-179518600	Enhancers	Primary B cells from cord blood	blood
14	chr5:179517600-179518600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:179517600-179518600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:179517600-179518600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:179517600-179518600	Enhancers	Brain Hippocampus Middle	brain
18	chr5:179517600-179518600	Enhancers	Fetal Thymus	thymus
19	chr5:179517600-179518600	Enhancers	Stomach Mucosa	stomach
20	chr5:179517600-179519400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:179517600-179521200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:179517600-179521400	Enhancers	Primary hematopoietic stem cells	blood
23	chr5:179517800-179518200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:179517800-179518200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:179517800-179518200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:179517800-179518200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr5:179517800-179518200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:179517800-179518200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:179517800-179518200	Enhancers	Duodenum Mucosa	Duodenum
30	chr5:179517800-179518200	Enhancers	Fetal Intestine Small	intestine
31	chr5:179517800-179518200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr5:179517800-179518200	Enhancers	HSMM	muscle
33	chr5:179517800-179518400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:179517800-179518400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr5:179517800-179518400	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr5:179517800-179518400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:179517800-179518400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:179517800-179518400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:179517800-179518400	Enhancers	Brain Cingulate Gyrus	brain
40	chr5:179517800-179518400	Enhancers	Brain Germinal Matrix	brain
41	chr5:179517800-179518400	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr5:179517800-179518400	Enhancers	Brain Substantia Nigra	brain
43	chr5:179517800-179518400	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr5:179517800-179518400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr5:179517800-179518400	Enhancers	Fetal Intestine Large	intestine
46	chr5:179517800-179518400	Enhancers	Fetal Lung	lung
47	chr5:179517800-179518400	Enhancers	Placenta	Placenta
48	chr5:179517800-179518400	Enhancers	Left Ventricle	heart
49	chr5:179517800-179518400	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr5:179517800-179518600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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