Variant report

Variant	rs62262094
Chromosome Location	chr3:49960751-49960752
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49960741..49963713-chr3:49976574..49979018,3	K562	blood:

Variant related genes	Relation type
ENSG00000004534	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13091525	1.00[AMR][1000 genomes];0.99[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	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62262094	RBM6	Cis_1M	lymphoblastoid	RTeQTL
rs62262094	RBM6	cis	Whole Blood	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49943800-49966000	Weak transcription	Psoas Muscle	Psoas
2	chr3:49944200-49962000	Weak transcription	HepG2	liver
3	chr3:49944200-49962000	Weak transcription	HSMM	muscle
4	chr3:49944200-49962000	Weak transcription	NH-A	brain
5	chr3:49944200-49966000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:49944400-49966000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr3:49944400-49966000	Weak transcription	HUVEC	blood vessel
8	chr3:49944600-49961800	Weak transcription	Hela-S3	cervix
9	chr3:49946800-49965800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:49948000-49961600	Weak transcription	HMEC	breast
11	chr3:49948000-49966800	Weak transcription	Fetal Heart	heart
12	chr3:49948600-49965400	Weak transcription	Fetal Lung	lung
13	chr3:49948800-49961800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:49948800-49966000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr3:49949000-49966200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:49949400-49962200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:49949400-49965600	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:49949800-49965400	Weak transcription	Gastric	stomach
19	chr3:49949800-49965800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr3:49949800-49966800	Weak transcription	Aorta	Aorta
21	chr3:49950000-49965800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr3:49950200-49962200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:49950200-49966000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr3:49950400-49965400	Weak transcription	Right Ventricle	heart
25	chr3:49950400-49965800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr3:49950600-49962000	Weak transcription	HSMMtube	muscle
27	chr3:49950600-49965400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:49950600-49965400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:49950600-49965400	Weak transcription	Brain Angular Gyrus	brain
30	chr3:49950600-49965600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:49950600-49965600	Weak transcription	Fetal Thymus	thymus
32	chr3:49950600-49965800	Weak transcription	Colon Smooth Muscle	Colon
33	chr3:49950600-49966000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr3:49950600-49966000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:49950600-49966000	Weak transcription	Brain Germinal Matrix	brain
36	chr3:49950600-49966000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:49950600-49966200	Weak transcription	Ovary	ovary
38	chr3:49950600-49966800	Weak transcription	Small Intestine	intestine
39	chr3:49950800-49961400	Weak transcription	Liver	Liver
40	chr3:49950800-49961800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:49950800-49962000	Weak transcription	Left Ventricle	heart
42	chr3:49950800-49962000	Weak transcription	NHLF	lung
43	chr3:49950800-49962200	Weak transcription	Fetal Intestine Large	intestine
44	chr3:49950800-49963400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr3:49950800-49964800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr3:49950800-49965000	Weak transcription	Dnd41	blood
47	chr3:49950800-49965200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:49950800-49965400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr3:49950800-49965400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr3:49950800-49965400	Weak transcription	Pancreas	Pancrea

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