Variant report

Variant	rs12314692
Chromosome Location	chr12:40688921-40688922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr12:40688505-40689197	A549	lung:	n/a	n/a
2	FOSL2	chr12:40688436-40689260	A549	lung:	n/a	n/a
3	TCF12	chr12:40688544-40689505	A549	lung:	n/a	n/a

Variant related genes	Relation type
LRRK2	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10459264	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10784485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10784497	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878299	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878302	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878336	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878386	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11175793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175852	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175882	0.82[AFR][1000 genomes]
rs11175884	0.82[AFR][1000 genomes]
rs11175902	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11175913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175941	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11175959	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175963	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175964	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176022	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11176195	0.85[AMR][1000 genomes]
rs11176261	0.85[AMR][1000 genomes]
rs11564183	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11836288	0.85[AMR][1000 genomes]
rs12316801	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12426498	0.85[AMR][1000 genomes]
rs12426891	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17443414	0.85[ASN][1000 genomes]
rs17490817	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17490865	0.83[AMR][1000 genomes]
rs28365224	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747891	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4318033	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56325408	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133914	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308720	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73108329	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73108339	0.94[EUR][1000 genomes]
rs73108368	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1042967	chr12:40629636-40710319	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
2	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
3	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
4	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
5	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr12:40659600-40694600	Weak transcription	Psoas Muscle	Psoas
7	chr12:40659600-40711200	Weak transcription	Aorta	Aorta
8	chr12:40661600-40696400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:40673400-40713400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:40674400-40760400	Weak transcription	Lung	lung
11	chr12:40677000-40712200	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:40678800-40689400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:40679000-40696200	Weak transcription	Right Ventricle	heart
14	chr12:40679200-40699400	Weak transcription	Fetal Kidney	kidney
15	chr12:40680400-40692600	Weak transcription	Small Intestine	intestine
16	chr12:40680400-40709000	Weak transcription	Ovary	ovary
17	chr12:40681000-40694200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:40682000-40694400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:40683000-40689200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:40684000-40697800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:40684000-40722600	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:40684000-40722600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr12:40684000-40725000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:40685200-40689000	Weak transcription	Adipose Nuclei	Adipose
26	chr12:40687200-40689000	Weak transcription	Liver	Liver
27	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:40687400-40691000	Strong transcription	Primary B cells from cord blood	blood
29	chr12:40688400-40689000	Enhancers	A549	lung
30	chr12:40688600-40689000	Enhancers	HUVEC	blood vessel
31	chr12:40688800-40691400	Strong transcription	Primary B cells from peripheral blood	blood

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