Variant report

Variant	rs8103633
Chromosome Location	chr19:38223623-38223624
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10048511	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10402671	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10409402	0.84[ASN][1000 genomes]
rs10409487	0.84[ASN][1000 genomes]
rs10409605	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10417576	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10420746	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11083432	0.86[EUR][1000 genomes]
rs11673023	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1291	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12974225	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12979640	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1531549	0.80[EUR][1000 genomes]
rs16958861	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16958863	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs171376	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1974714	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2075284	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2287229	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs241932	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241933	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs241950	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2909085	0.87[ASN][1000 genomes]
rs2909088	0.88[ASN][1000 genomes]
rs2909093	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2909098	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2909100	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2909102	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2909105	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2909109	0.87[ASN][1000 genomes]
rs2927739	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2927740	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2927742	0.81[ASN][1000 genomes]
rs2927746	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2927747	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972430	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972434	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972437	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2972438	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2972439	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2972445	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2972446	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2972447	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2972448	0.87[ASN][1000 genomes]
rs2972458	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3095724	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3095726	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3101746	0.80[ASN][1000 genomes]
rs3101747	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3112433	0.82[ASN][1000 genomes]
rs3112434	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35863684	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4803509	0.84[ASN][1000 genomes]
rs56151076	0.87[ASN][1000 genomes]
rs6508742	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8103647	0.80[EUR][1000 genomes]
rs8112706	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs856300	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs856304	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9304569	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs958305	0.88[EUR][1000 genomes]
rs968073	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9749368	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][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	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38210800-38229400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:38211000-38224600	Weak transcription	Fetal Stomach	stomach
3	chr19:38211000-38225200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr19:38211000-38225200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:38211000-38226400	Weak transcription	Psoas Muscle	Psoas
6	chr19:38211000-38227600	Weak transcription	Brain Hippocampus Middle	brain
7	chr19:38211000-38228400	Weak transcription	Fetal Muscle Leg	muscle
8	chr19:38211000-38228600	Weak transcription	Brain Substantia Nigra	brain
9	chr19:38211000-38229200	Weak transcription	Fetal Kidney	kidney
10	chr19:38211000-38229200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr19:38211000-38229200	Weak transcription	Left Ventricle	heart
12	chr19:38211000-38229400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:38211000-38229400	Weak transcription	Brain Germinal Matrix	brain
14	chr19:38211000-38229400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:38211000-38230200	Weak transcription	Hela-S3	cervix
16	chr19:38211200-38225600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr19:38211200-38229200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr19:38211200-38229200	Weak transcription	Fetal Brain Female	brain
19	chr19:38211200-38229200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr19:38218400-38229200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr19:38219400-38224600	Weak transcription	Ovary	ovary
22	chr19:38221200-38241800	ZNF genes & repeats	Liver	Liver
23	chr19:38221800-38225200	Weak transcription	Right Ventricle	heart
24	chr19:38221800-38225800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:38222200-38225400	Weak transcription	Pancreas	Pancrea
26	chr19:38222800-38225200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr19:38223600-38225400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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