Variant report

Variant	rs73176018
Chromosome Location	chr5:89843283-89843284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:89821919..89824561-chr5:89840686..89844146,3	MCF-7	breast:
2	chr5:89822535..89824744-chr5:89842428..89844021,2	K562	blood:
3	chr5:89705126..89706810-chr5:89842410..89844887,2	MCF-7	breast:
4	chr5:89842756..89845213-chr5:89939588..89942557,2	K562	blood:
5	chr5:89703142..89707771-chr5:89841561..89845408,5	K562	blood:
6	chr5:89768870..89770487-chr5:89842476..89844601,2	MCF-7	breast:
7	chr5:89841281..89844094-chr5:89853363..89855965,3	K562	blood:
8	chr5:89824636..89834797-chr5:89838005..89846568,18	MCF-7	breast:
9	chr5:89824246..89828197-chr5:89842395..89845815,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000176055	Chromatin interaction
ENSG00000176018	Chromatin interaction
ENSG00000113356	Chromatin interaction
ENSG00000153140	Chromatin interaction
ENSG00000164199	Chromatin interaction
ENSG00000255647	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10057209	0.83[AMR][1000 genomes]
rs10061554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10062944	0.83[AMR][1000 genomes]
rs10063133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10068222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10069574	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10070071	0.83[AMR][1000 genomes]
rs10074390	0.83[AMR][1000 genomes]
rs10514329	0.83[AMR][1000 genomes]
rs10942598	0.83[AMR][1000 genomes]
rs11953762	0.83[AMR][1000 genomes]
rs11960201	0.83[AMR][1000 genomes]
rs12109357	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12332360	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12332567	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12332756	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12332758	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1394638	0.83[AMR][1000 genomes]
rs1995555	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2886763	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56983849	0.90[AMR][1000 genomes]
rs57242895	0.90[AMR][1000 genomes]
rs59103759	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61748292	0.83[AMR][1000 genomes]
rs6452891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6452892	0.90[AMR][1000 genomes]
rs6452893	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6452894	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6452895	0.83[AMR][1000 genomes]
rs6862493	0.83[AMR][1000 genomes]
rs6881886	0.83[AMR][1000 genomes]
rs6888809	0.83[AMR][1000 genomes]
rs6889466	0.83[AMR][1000 genomes]
rs6890465	0.83[AMR][1000 genomes]
rs6890575	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6897313	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73176092	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73177814	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73177822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7706392	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7709218	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7724959	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7726094	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7736668	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7737581	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv882365	chr5:89770768-89882618	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv882366	chr5:89826726-89894564	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89839400-89844200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:89840400-89845200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:89840800-89845800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:89842200-89844000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:89842200-89844200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:89842200-89844400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:89842200-89844600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:89842200-89844800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:89842400-89843600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:89842600-89843800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:89842800-89843400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr5:89842800-89843400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:89842800-89843400	Enhancers	Brain Anterior Caudate	brain
14	chr5:89842800-89844400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:89842800-89844400	Enhancers	HepG2	liver
16	chr5:89842800-89844600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:89843000-89843600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr5:89843000-89844000	Bivalent/Poised TSS	A549	lung
19	chr5:89843000-89844200	Enhancers	Brain Cingulate Gyrus	brain
20	chr5:89843000-89844400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:89843000-89844400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:89843000-89844400	Enhancers	Hela-S3	cervix
23	chr5:89843000-89844600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:89843200-89843400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:89843200-89843400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr5:89843200-89843600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:89843200-89844000	Enhancers	K562	blood
28	chr5:89843200-89844400	Enhancers	Brain Substantia Nigra	brain

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