Variant report

Variant	rs3112435
Chromosome Location	chr19:38223994-38223995
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1038085	0.80[EUR][1000 genomes]
rs10417204	0.81[EUR][1000 genomes]
rs10425671	0.84[EUR][1000 genomes]
rs11665877	0.99[EUR][1000 genomes]
rs11667454	0.91[EUR][1000 genomes]
rs11667457	0.91[EUR][1000 genomes]
rs11668434	0.98[EUR][1000 genomes]
rs11668558	1.00[EUR][1000 genomes]
rs11670655	0.91[EUR][1000 genomes]
rs11672077	0.91[EUR][1000 genomes]
rs11883392	0.84[EUR][1000 genomes]
rs12972712	1.00[EUR][1000 genomes]
rs12981237	0.99[EUR][1000 genomes]
rs12982288	1.00[EUR][1000 genomes]
rs12983298	0.91[EUR][1000 genomes]
rs17306508	0.98[EUR][1000 genomes]
rs1871197	0.91[EUR][1000 genomes]
rs2045909	0.84[EUR][1000 genomes]
rs2160640	0.91[EUR][1000 genomes]
rs2199644	0.80[EUR][1000 genomes]
rs2291000	0.84[EUR][1000 genomes]
rs2385116	0.91[EUR][1000 genomes]
rs2385124	0.81[EUR][1000 genomes]
rs2385125	0.80[EUR][1000 genomes]
rs241947	0.95[EUR][1000 genomes]
rs241953	0.94[EUR][1000 genomes]
rs241957	0.87[EUR][1000 genomes]
rs241959	0.89[EUR][1000 genomes]
rs241960	0.89[EUR][1000 genomes]
rs2909106	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2927741	0.91[EUR][1000 genomes]
rs2972453	0.91[EUR][1000 genomes]
rs2972454	0.89[EUR][1000 genomes]
rs2972456	0.91[EUR][1000 genomes]
rs2972459	0.91[EUR][1000 genomes]
rs34351186	0.89[EUR][1000 genomes]
rs34607899	0.98[EUR][1000 genomes]
rs34782935	0.96[EUR][1000 genomes]
rs34949193	0.94[EUR][1000 genomes]
rs35015599	1.00[EUR][1000 genomes]
rs35214625	1.00[EUR][1000 genomes]
rs35273320	0.91[EUR][1000 genomes]
rs35415221	0.96[EUR][1000 genomes]
rs36020184	0.98[EUR][1000 genomes]
rs36092052	0.98[EUR][1000 genomes]
rs3752365	1.00[EUR][1000 genomes]
rs4273159	0.85[EUR][1000 genomes]
rs4482404	1.00[EUR][1000 genomes]
rs4802066	0.85[EUR][1000 genomes]
rs4803228	0.81[EUR][1000 genomes]
rs57308437	1.00[EUR][1000 genomes]
rs62108304	0.91[EUR][1000 genomes]
rs62108339	0.96[EUR][1000 genomes]
rs62108355	0.97[EUR][1000 genomes]
rs6508738	0.85[EUR][1000 genomes]
rs7253174	0.88[EUR][1000 genomes]
rs7254170	0.88[EUR][1000 genomes]
rs7254828	0.98[EUR][1000 genomes]
rs856302	0.95[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	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:28 , 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
28	chr19:38223800-38227000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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