Variant report

Variant	rs73179321
Chromosome Location	chr5:90119198-90119199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90118775..90121270-chr5:90123736..90126038,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs6872705	1.00[AMR][1000 genomes]
rs715668	1.00[AMR][1000 genomes]
rs73175296	1.00[AMR][1000 genomes]
rs73175300	1.00[AMR][1000 genomes]
rs73177408	1.00[AMR][1000 genomes]
rs73177413	1.00[AMR][1000 genomes]
rs73177422	1.00[AMR][1000 genomes]
rs73177427	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73179309	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73179328	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73179329	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73179336	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73179340	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73179343	1.00[AMR][1000 genomes]
rs73179344	1.00[AMR][1000 genomes]
rs73179354	1.00[AMR][1000 genomes]
rs73181318	1.00[AMR][1000 genomes]
rs73181321	1.00[AMR][1000 genomes]
rs73181323	1.00[AMR][1000 genomes]
rs73181330	1.00[AMR][1000 genomes]
rs7737712	1.00[AMR][1000 genomes]
rs949788	1.00[AMR][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	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
2	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
3	nsv531965	chr5:89886550-90145002	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv882367	chr5:89956991-90209824	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv1015449	chr5:89968626-90219398	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90092400-90122200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:90100600-90119200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:90103000-90140800	Weak transcription	Brain Germinal Matrix	brain
4	chr5:90104600-90142000	Weak transcription	Brain Anterior Caudate	brain
5	chr5:90106800-90128400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:90110200-90149600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:90112000-90125200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:90112000-90132800	Weak transcription	K562	blood
9	chr5:90112000-90151200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:90112000-90160600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:90112000-90175800	Weak transcription	Fetal Brain Female	brain
12	chr5:90112200-90124800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:90112200-90142200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:90117200-90119800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:90118200-90125400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr5:90118200-90128600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:90118400-90124800	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:90118800-90119200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:90118800-90122600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:90119000-90119800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:90119000-90121000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:90119000-90127800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:90119000-90131000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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