Variant report

Variant	rs34109383
Chromosome Location	chr2:191464451-191464452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10204628	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10931455	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10931459	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931460	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931464	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11673788	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11673921	0.80[EUR][1000 genomes]
rs11675051	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677333	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11685221	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11686226	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13005335	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159821	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159822	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34101385	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34703964	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34751744	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35954637	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3934784	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4324341	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4343493	0.85[EUR][1000 genomes]
rs4384819	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4384820	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4597559	0.85[EUR][1000 genomes]
rs4638823	0.83[EUR][1000 genomes]
rs55784091	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55788736	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55884870	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55901912	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55918914	0.80[EUR][1000 genomes]
rs56094872	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56337518	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61730953	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61743479	0.89[EUR][1000 genomes]
rs62181001	0.83[EUR][1000 genomes]
rs62181002	0.83[EUR][1000 genomes]
rs62181014	0.83[EUR][1000 genomes]
rs62181015	0.83[EUR][1000 genomes]
rs62181017	0.85[EUR][1000 genomes]
rs62181024	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62181026	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62181027	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62181031	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62181032	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62181033	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62181036	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62181053	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62181057	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182860	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182861	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182862	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182863	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182864	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182892	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182893	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434404	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6707836	0.80[EUR][1000 genomes]
rs6708018	0.80[EUR][1000 genomes]
rs6714829	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6719656	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6727054	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742904	0.83[EUR][1000 genomes]
rs6756354	0.83[EUR][1000 genomes]
rs6757698	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72905231	0.83[EUR][1000 genomes]
rs72905290	0.85[EUR][1000 genomes]
rs72907168	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72911128	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7573621	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7574871	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7721	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[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	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34109383	FLJ20160	cis	multi-tissue	Pritchard
rs34109383	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs34109383	FLJ20160	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191450400-191469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:191450600-191467000	Weak transcription	Brain Substantia Nigra	brain
3	chr2:191450600-191467200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:191456600-191465000	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:191456600-191491800	Weak transcription	Aorta	Aorta
6	chr2:191457000-191471600	Weak transcription	Psoas Muscle	Psoas
7	chr2:191457200-191467000	Weak transcription	Brain Angular Gyrus	brain
8	chr2:191458400-191468200	Weak transcription	Left Ventricle	heart
9	chr2:191461400-191464600	Enhancers	Osteobl	bone
10	chr2:191461600-191464800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:191461600-191464800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:191462000-191471600	Weak transcription	Fetal Lung	lung
13	chr2:191462000-191471600	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:191463000-191465400	Enhancers	Hela-S3	cervix
15	chr2:191463200-191465400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:191463400-191464800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:191463400-191465000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:191463600-191464800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr2:191463600-191464800	Enhancers	GM12878-XiMat	blood
20	chr2:191463600-191465400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:191463600-191468800	Weak transcription	Brain Anterior Caudate	brain
22	chr2:191463800-191464600	Weak transcription	Stomach Mucosa	stomach
23	chr2:191463800-191465400	Enhancers	Primary T cells from cord blood	blood
24	chr2:191463800-191465800	Enhancers	A549	lung
25	chr2:191463800-191467200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:191463800-191470600	Weak transcription	HMEC	breast
27	chr2:191464000-191465400	Enhancers	Colon Smooth Muscle	Colon
28	chr2:191464200-191464600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:191464200-191465800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:191464400-191464600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:191464400-191464600	Bivalent Enhancer	Gastric	stomach
32	chr2:191464400-191464800	Enhancers	Fetal Kidney	kidney
33	chr2:191464400-191464800	Enhancers	Right Atrium	heart
34	chr2:191464400-191465200	Enhancers	Fetal Heart	heart

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