Variant report

Variant	rs74095345
Chromosome Location	chr13:67719715-67719716
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:67644544..67646111-chr13:67718055..67719973,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56054443	1.00[AMR][1000 genomes]
rs7337249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74093555	1.00[AMR][1000 genomes]
rs74093591	1.00[AMR][1000 genomes]
rs74093593	1.00[AMR][1000 genomes]
rs74093682	1.00[AMR][1000 genomes]
rs74095318	1.00[AMR][1000 genomes]
rs74095340	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74096710	1.00[AMR][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	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv430581	chr13:67572850-67762288	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv430582	chr13:67589898-67762299	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1037217	chr13:67589937-67728156	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1039600	chr13:67593961-67726047	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv541823	chr13:67593961-67726047	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1053514	chr13:67687520-67775011	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67710200-67721000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr13:67712200-67720600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr13:67714800-67721000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr13:67715000-67721200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr13:67717800-67721800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:67718000-67721400	Enhancers	Brain Substantia Nigra	brain
7	chr13:67718000-67721600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:67718200-67719800	Weak transcription	HUVEC	blood vessel
9	chr13:67718200-67720200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:67718400-67720200	Weak transcription	Brain Anterior Caudate	brain
11	chr13:67718400-67720600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr13:67718400-67720600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr13:67718400-67721200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr13:67718400-67721600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr13:67718600-67720400	Weak transcription	Primary B cells from cord blood	blood
16	chr13:67718600-67720600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:67719000-67721000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr13:67719200-67721200	Weak transcription	Brain Angular Gyrus	brain
19	chr13:67719400-67719800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:67719400-67720600	Weak transcription	Right Atrium	heart
21	chr13:67719400-67720600	Weak transcription	A549	lung
22	chr13:67719400-67723600	Enhancers	Fetal Heart	heart
23	chr13:67719600-67720000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:67719600-67720200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr13:67719600-67720600	Weak transcription	Brain Hippocampus Middle	brain

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