Variant report

Variant	rs7070044
Chromosome Location	chr10:18973521-18973522
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	chr10:18969086..18970965-chr10:18973281..18975325,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1055114	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17695669	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1971272	0.83[EUR][1000 genomes]
rs45499092	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7073751	0.98[EUR][1000 genomes]
rs7905432	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550042	chr10:18683267-18994583	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv466762	chr10:18932172-18976659	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv550121	chr10:18932172-18976659	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7070044	NSUN6	cis	lung	GTEx
rs7070044	CACNB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18951000-18976400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:18951400-18973800	Weak transcription	Aorta	Aorta
3	chr10:18959000-18973600	Weak transcription	Left Ventricle	heart
4	chr10:18961000-18973600	Weak transcription	Thymus	Thymus
5	chr10:18962400-18973600	Weak transcription	Fetal Intestine Small	intestine
6	chr10:18962400-18973600	Weak transcription	Fetal Stomach	stomach
7	chr10:18964600-18973600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr10:18964600-18973800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr10:18964800-18973800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr10:18966200-18976000	Weak transcription	HepG2	liver
11	chr10:18966600-18974600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr10:18968400-18978800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr10:18969800-18974200	Enhancers	Osteobl	bone
14	chr10:18969800-18974800	Enhancers	Hela-S3	cervix
15	chr10:18970000-18974200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:18970800-18973600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:18971000-18973600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr10:18971800-18975000	Weak transcription	Dnd41	blood
19	chr10:18972200-18973600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:18972200-18974000	Weak transcription	Liver	Liver
21	chr10:18972600-18973600	Enhancers	A549	lung
22	chr10:18972600-18974200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:18972600-18974200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:18973000-18974000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:18973000-18974000	Weak transcription	HMEC	breast
26	chr10:18973200-18974400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:18973400-18973600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr10:18973400-18973600	Enhancers	Ovary	ovary
29	chr10:18973400-18973600	Enhancers	Psoas Muscle	Psoas
30	chr10:18973400-18973800	Enhancers	Fetal Lung	lung
31	chr10:18973400-18973800	Weak transcription	NHEK	skin

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