Variant report

Variant	rs73175300
Chromosome Location	chr5:90036388-90036389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90026889..90029079-chr5:90034267..90036442,2	K562	blood:
2	chr5:90033178..90036416-chr5:90039651..90042855,4	K562	blood:

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]
rs73175296	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90019800-90043000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:90022400-90074000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:90024800-90044000	Weak transcription	Brain Germinal Matrix	brain
4	chr5:90025000-90043000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:90027600-90036400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:90034000-90040000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:90034600-90059600	Weak transcription	Brain Anterior Caudate	brain
8	chr5:90035000-90038800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:90035200-90036400	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:90035200-90037200	Genic enhancers	K562	blood
11	chr5:90035400-90036400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:90035400-90037000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:90035400-90037200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:90035400-90037200	Strong transcription	Fetal Brain Female	brain
15	chr5:90035800-90037000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:90035800-90040800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:90036000-90036600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:90036000-90036600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:90036000-90036800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:90036000-90041400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:90036200-90036600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:90036200-90037000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:90036200-90038400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:90036200-90040600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:90036200-90066000	Weak transcription	Pancreas	Pancrea

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