Variant report

Variant	rs4747349
Chromosome Location	chr10:18801234-18801235
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10400076	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10508563	0.80[ASN][1000 genomes]
rs10741091	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10741101	0.82[ASN][1000 genomes]
rs10764578	0.92[ASN][1000 genomes]
rs10764582	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10764583	0.81[ASN][1000 genomes]
rs10764600	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10764601	0.81[AMR][1000 genomes]
rs10764603	0.81[AMR][1000 genomes]
rs10828851	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10828870	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10828871	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10828872	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10828896	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10828911	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10828965	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10828975	0.82[AMR][1000 genomes]
rs10829070	0.81[AMR][1000 genomes]
rs11014634	0.94[ASN][1000 genomes]
rs11014892	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11015048	0.82[AMR][1000 genomes]
rs12569474	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2272274	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3740102	0.81[AMR][1000 genomes]
rs3817494	0.81[ASN][1000 genomes]
rs4747350	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4748488	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4748492	0.81[EUR][1000 genomes]
rs57579336	0.82[AMR][1000 genomes]
rs62636218	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6482533	0.80[EUR][1000 genomes]
rs7077722	0.81[EUR][1000 genomes]
rs7079325	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7088091	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72787951	0.81[ASN][1000 genomes]
rs72787963	0.81[AMR][1000 genomes]
rs7894016	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7898513	0.87[ASN][1000 genomes]
rs7901598	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7904263	0.81[AMR][1000 genomes]
rs7917584	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7922550	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7922829	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs4747349	NSUN6	Cis_1M	lymphoblastoid	RTeQTL
rs4747349	ARL5B	cis	Whole Blood	GTEx
rs4747349	RP11-499P20.2	cis	Esophagus Mucosa	GTEx
rs4747349	RP11-499P20.2	cis	Nerve Tibial	GTEx
rs4747349	NSUN6	cis	lung	GTEx
rs4747349	ARL5B	Cis_1M	lymphoblastoid	RTeQTL
rs4747349	RP11-499P20.2	cis	Skin Sun Exposed Lower leg	GTEx
rs4747349	RP11-499P20.2	cis	Whole Blood	GTEx
rs4747349	RP11-499P20.2	cis	lung	GTEx
rs4747349	RP11-499P20.2	cis	Thyroid	GTEx
rs4747349	CACNB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18732400-18801600	Weak transcription	Pancreas	Pancrea
2	chr10:18776200-18809400	Weak transcription	Right Ventricle	heart
3	chr10:18776200-18812200	Weak transcription	Right Atrium	heart
4	chr10:18778600-18818200	Weak transcription	Fetal Intestine Small	intestine
5	chr10:18779600-18803200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr10:18781000-18803200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr10:18785400-18808400	Weak transcription	Colon Smooth Muscle	Colon
8	chr10:18786800-18802000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr10:18787400-18807400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:18787400-18808200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr10:18787400-18810200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr10:18787600-18803200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr10:18788000-18801800	Weak transcription	Fetal Stomach	stomach
14	chr10:18788200-18808400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr10:18788200-18809600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr10:18789800-18807800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr10:18790600-18802000	Weak transcription	Left Ventricle	heart
18	chr10:18790800-18801600	Weak transcription	Liver	Liver
19	chr10:18791000-18807200	Weak transcription	Brain Anterior Caudate	brain
20	chr10:18792400-18825400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:18794000-18818400	Weak transcription	Fetal Brain Male	brain
22	chr10:18795000-18801400	Weak transcription	Fetal Lung	lung
23	chr10:18795000-18803200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:18795000-18807200	Weak transcription	Aorta	Aorta
25	chr10:18795600-18801600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr10:18798400-18801600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:18799800-18803400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr10:18799800-18825200	Weak transcription	Colonic Mucosa	Colon
29	chr10:18800000-18801600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr10:18800200-18801400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr10:18800200-18826800	Weak transcription	Brain Substantia Nigra	brain
32	chr10:18800400-18827000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:18800600-18802200	Strong transcription	Fetal Intestine Large	intestine
34	chr10:18800600-18803600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr10:18800800-18801600	Strong transcription	Fetal Heart	heart
36	chr10:18800800-18804000	Weak transcription	Ovary	ovary
37	chr10:18800800-18818800	Weak transcription	Brain Germinal Matrix	brain
38	chr10:18800800-18819400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr10:18801000-18818800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr10:18801200-18802400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr10:18801200-18802800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr10:18801200-18809800	Weak transcription	Brain Angular Gyrus	brain

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