Variant report

Variant	rs918483
Chromosome Location	chr5:179722015-179722016
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	USF1	chr5:179721927-179722267	ECC-1	luminal epithelium:	n/a	chr5:179722117-179722128
2	USF2	chr5:179721944-179722261	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF1	chr5:179721844-179722419	HCT-116	colon:	n/a	chr5:179722117-179722128
4	USF1	chr5:179721969-179722310	K562	blood:	n/a	chr5:179722117-179722128
5	USF1	chr5:179721854-179722243	H1-hESC	embryonic stem cell:	n/a	chr5:179722117-179722128
6	POLR2A	chr5:179721664-179722293	PFSK-1	brain:	n/a	n/a
7	USF1	chr5:179721936-179722305	H1-hESC	embryonic stem cell:	n/a	chr5:179722117-179722128
8	USF1	chr5:179721897-179722268	K562	blood:	n/a	chr5:179722117-179722128
9	POLR2A	chr5:179721307-179723019	SK-N-MC	brain:	n/a	n/a
10	USF1	chr5:179722014-179722193	HepG2	liver:	n/a	chr5:179722117-179722128

No.	Distal block	Cell Line	Cell type
1	chr5:179720972..179723069-chr5:179918796..179921248,2	MCF-7	breast:
2	chr5:179720624..179723530-chr5:179725711..179728473,2	K562	blood:
3	chr5:179715674..179717304-chr5:179721521..179723626,2	K562	blood:
4	chr5:179721389..179723686-chr5:179731790..179733996,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNOT6-4	chr5:179719184-179722539	NONHSAT105673

Variant related genes	Relation type
MAPK9	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11738309	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11740631	0.83[EUR][1000 genomes]
rs11745449	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11747155	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2303005	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2386854	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3749792	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3749793	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57931856	0.83[EUR][1000 genomes]
rs7701459	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs918482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
8	nsv883290	chr5:179712060-179818868	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv830563	chr5:179717693-179898609	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv10787	chr5:179717724-179732388	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179720000-179722800	Weak transcription	HSMMtube	muscle
2	chr5:179720000-179727400	Weak transcription	Ovary	ovary
3	chr5:179720400-179722200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr5:179720400-179722200	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:179720600-179722200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:179720600-179722200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:179720600-179722200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr5:179720600-179722200	Enhancers	K562	blood
9	chr5:179720600-179722400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:179720600-179722400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr5:179720600-179722400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:179720600-179722600	Enhancers	Primary hematopoietic stem cells	blood
13	chr5:179720600-179722600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:179720600-179722600	Weak transcription	Brain Germinal Matrix	brain
15	chr5:179720600-179722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:179720600-179722800	Weak transcription	Colonic Mucosa	Colon
17	chr5:179720600-179723000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:179720600-179723200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:179720600-179723200	Weak transcription	Fetal Intestine Large	intestine
20	chr5:179720600-179724800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:179720600-179725200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:179720600-179726800	Weak transcription	Osteobl	bone
23	chr5:179720600-179727200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:179720600-179727200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:179720600-179727200	Weak transcription	HSMM	muscle
26	chr5:179720600-179727400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:179720600-179727400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:179720600-179727400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:179720600-179727600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:179720600-179727600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:179720600-179727600	Weak transcription	NH-A	brain
32	chr5:179720600-179727800	Weak transcription	Aorta	Aorta
33	chr5:179720600-179727800	Weak transcription	Lung	lung
34	chr5:179720600-179728200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr5:179720600-179729600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:179720600-179730400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:179720600-179731400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:179720600-179739200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:179720600-179742800	Weak transcription	Right Ventricle	heart
40	chr5:179720600-179743200	Weak transcription	Fetal Lung	lung
41	chr5:179720600-179756800	Weak transcription	NHDF-Ad	bronchial
42	chr5:179720600-179758400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr5:179720800-179722800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:179720800-179724200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:179720800-179727400	Weak transcription	Fetal Brain Female	brain
46	chr5:179720800-179727800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:179720800-179728000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:179720800-179730200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:179720800-179743600	Weak transcription	Right Atrium	heart
50	chr5:179720800-179747000	Weak transcription	Placenta Amnion	Placenta Amnion

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