Variant report

Variant	rs1055114
Chromosome Location	chr10:18966741-18966742
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	chr10:18963664..18965385-chr10:18966665..18968377,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17695669	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1971272	0.84[EUR][1000 genomes]
rs45499092	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58857018	0.81[EUR][1000 genomes]
rs7070044	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7073751	0.95[EUR][1000 genomes]
rs7905432	0.83[AMR][1000 genomes];0.82[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
rs1055114	CACNB2	Cis_1M	lymphoblastoid	RTeQTL
rs1055114	NSUN6	cis	lung	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18949400-18973200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:18949600-18972000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr10:18951000-18967400	Weak transcription	Esophagus	oesophagus
4	chr10:18951000-18971800	Weak transcription	Spleen	Spleen
5	chr10:18951000-18976400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:18951400-18973800	Weak transcription	Aorta	Aorta
7	chr10:18954400-18967200	Weak transcription	Gastric	stomach
8	chr10:18954400-18969200	Weak transcription	Right Ventricle	heart
9	chr10:18954400-18973400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:18955000-18972600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:18955200-18967600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr10:18955400-18969200	Weak transcription	Brain Angular Gyrus	brain
13	chr10:18955600-18968000	Weak transcription	Brain Substantia Nigra	brain
14	chr10:18956000-18966800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr10:18956000-18970000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:18956000-18972200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr10:18956200-18973200	Weak transcription	Small Intestine	intestine
18	chr10:18956400-18966800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr10:18956400-18967800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr10:18956800-18966800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:18957400-18968400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr10:18957400-18971600	Weak transcription	Fetal Heart	heart
23	chr10:18957600-18966800	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr10:18957600-18966800	Strong transcription	Liver	Liver
25	chr10:18957600-18967200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr10:18957600-18969600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr10:18957600-18971200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr10:18957800-18971000	Weak transcription	Brain Anterior Caudate	brain
29	chr10:18958000-18967800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr10:18958000-18967800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr10:18958000-18968400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr10:18958200-18969800	Weak transcription	NHEK	skin
33	chr10:18958200-18970000	Weak transcription	HSMMtube	muscle
34	chr10:18959000-18973600	Weak transcription	Left Ventricle	heart
35	chr10:18960000-18972400	Weak transcription	Brain Hippocampus Middle	brain
36	chr10:18960200-18969800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr10:18960400-18970200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr10:18960800-18970200	Weak transcription	NHLF	lung
39	chr10:18960800-18973400	Weak transcription	Ovary	ovary
40	chr10:18961000-18970800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr10:18961000-18973600	Weak transcription	Thymus	Thymus
42	chr10:18961600-18971000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr10:18961800-18970200	Weak transcription	HMEC	breast
44	chr10:18962200-18966800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr10:18962400-18966800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr10:18962400-18967200	Strong transcription	NH-A	brain
47	chr10:18962400-18973600	Weak transcription	Fetal Intestine Small	intestine
48	chr10:18962400-18973600	Weak transcription	Fetal Stomach	stomach
49	chr10:18963200-18967400	Weak transcription	Hela-S3	cervix
50	chr10:18963200-18973400	Weak transcription	Pancreas	Pancrea

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