Variant report

Variant	rs73175296
Chromosome Location	chr5:90029857-90029858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
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]
rs73175300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73177408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73177413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73177422	1.00[AMR][1000 genomes]
rs73177427	1.00[AMR][1000 genomes]
rs73179309	1.00[AMR][1000 genomes]
rs73179321	1.00[AMR][1000 genomes]
rs73179328	1.00[AMR][1000 genomes]
rs73179329	1.00[AMR][1000 genomes]
rs73179336	1.00[AMR][1000 genomes]
rs73179340	1.00[AMR][1000 genomes]
rs73179343	0.87[AFR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs949788	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	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
6	nsv934323	chr5:89968158-90111853	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	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
8	nsv1031718	chr5:89999033-90099868	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89950400-90033400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:90010600-90035200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:90019800-90043000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:90020000-90033600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:90020400-90030200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:90020400-90034000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:90022400-90074000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:90024200-90034400	Weak transcription	Brain Anterior Caudate	brain
9	chr5:90024800-90044000	Weak transcription	Brain Germinal Matrix	brain
10	chr5:90025000-90035600	Weak transcription	Pancreas	Pancrea
11	chr5:90025000-90043000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:90026800-90031400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:90027600-90031400	Weak transcription	Fetal Brain Female	brain
14	chr5:90027600-90035400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:90027600-90036200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:90027600-90036400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:90028200-90031400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:90029000-90030400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:90029200-90032000	Strong transcription	K562	blood
20	chr5:90029400-90035400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:90029600-90030000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:90029800-90035400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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