Variant report

Variant	rs4873
Chromosome Location	chr5:89703641-89703642
allele	C/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	CEBPB	chr5:89703376-89703734	K562	blood:	n/a	n/a
2	FOS	chr5:89703597-89703958	MCF10A-Er-Src	breast:	n/a	n/a
3	IRF1	chr5:89703448-89703983	K562	blood:	n/a	chr5:89703710-89703719 chr5:89703779-89703788 chr5:89703658-89703672 chr5:89703737-89703748 chr5:89703654-89703674
4	IRF1	chr5:89702985-89707037	K562	blood:	n/a	chr5:89703710-89703719 chr5:89703163-89703172 chr5:89703779-89703788 chr5:89706784-89706796 chr5:89705752-89705766 chr5:89703658-89703672 chr5:89704050-89704064 chr5:89705730-89705744 chr5:89704915-89704929 chr5:89703737-89703748 chr5:89704052-89704065 chr5:89703654-89703674 chr5:89704915-89704925 chr5:89706781-89706795

No.	Distal block	Cell Line	Cell type
1	chr5:89680507..89687450-chr5:89698366..89705754,8	MCF-7	breast:
2	chr5:89701553..89708894-chr5:89768084..89771807,14	K562	blood:
3	chr5:89703250..89710229-chr5:89936398..89944611,13	K562	blood:
4	chr5:89684756..89687141-chr5:89703504..89706860,3	MCF-7	breast:
5	chr5:89703358..89707086-chr5:89823955..89827154,6	MCF-7	breast:
6	chr5:89702524..89708084-chr5:89764247..89773389,22	K562	blood:
7	chr5:88178723..88181688-chr5:89702719..89707070,5	K562	blood:
8	chr5:89701624..89708275-chr5:89936212..89939090,6	K562	blood:
9	chr5:89703591..89705335-chr6:26204580..26206448,2	K562	blood:
10	chr5:89702296..89704546-chr5:89766463..89768000,2	K562	blood:
11	chr5:89703407..89707223-chr5:89822965..89826833,10	K562	blood:
12	chr5:89703543..89706963-chr5:89767513..89771420,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255647	TF binding region
ENSG00000113356	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000164199	Chromatin interaction
ENSG00000176055	Chromatin interaction
ENSG00000260871	Chromatin interaction
ENSG00000248309	Chromatin interaction
ENSG00000081189	Chromatin interaction
ENSG00000176018	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6864721	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS 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	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv917025	chr5:89208994-89855436	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv882363	chr5:89643399-89725515	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89681600-89704600	Weak transcription	Aorta	Aorta
2	chr5:89683400-89703800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:89686000-89704400	Weak transcription	Psoas Muscle	Psoas
4	chr5:89686400-89704400	Weak transcription	Small Intestine	intestine
5	chr5:89686600-89704200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:89686800-89704400	Weak transcription	Fetal Kidney	kidney
7	chr5:89687000-89704400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:89687000-89704400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:89687000-89704600	Weak transcription	Fetal Stomach	stomach
10	chr5:89687200-89704400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:89687200-89704400	Weak transcription	Thymus	Thymus
12	chr5:89687200-89704600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:89687200-89704600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:89687400-89704600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:89688200-89704400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr5:89688400-89704400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:89689000-89704400	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:89689000-89704400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:89690600-89704800	Weak transcription	Ovary	ovary
20	chr5:89691400-89704600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:89691800-89704600	Weak transcription	Fetal Brain Male	brain
22	chr5:89693200-89704400	Weak transcription	Colonic Mucosa	Colon
23	chr5:89693200-89704400	Weak transcription	Fetal Intestine Small	intestine
24	chr5:89693200-89704400	Weak transcription	Right Ventricle	heart
25	chr5:89693200-89704600	Weak transcription	Brain Germinal Matrix	brain
26	chr5:89693200-89704600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:89693600-89704600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:89693600-89704800	Weak transcription	Lung	lung
29	chr5:89694800-89704200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr5:89694800-89704400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr5:89694800-89704400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:89694800-89704600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:89694800-89704600	Weak transcription	Pancreas	Pancrea
34	chr5:89694800-89704600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr5:89694800-89704600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr5:89695000-89704200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr5:89695000-89704400	Weak transcription	Fetal Intestine Large	intestine
38	chr5:89695000-89704600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr5:89695000-89704600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr5:89695200-89704200	Weak transcription	Brain Substantia Nigra	brain
41	chr5:89695400-89704400	Weak transcription	Adipose Nuclei	Adipose
42	chr5:89695800-89704400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr5:89696600-89704600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr5:89696600-89704600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr5:89698400-89704400	Weak transcription	HSMMtube	muscle
46	chr5:89698600-89704400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:89698600-89705000	Weak transcription	Gastric	stomach
48	chr5:89698800-89704200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:89698800-89704400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:89701200-89704400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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