Variant report

Variant	rs2195431
Chromosome Location	chr16:65009886-65009887
allele	C/T
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	CEBPB	chr16:65009754-65010108	IMR90	lung:	n/a	n/a
2	CEBPB	chr16:65009806-65010096	HepG2	liver:	n/a	n/a
3	CEBPB	chr16:65009834-65010047	A549	lung:	n/a	n/a

Variant related genes	Relation type
CDH11	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1124695	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1130821	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12597175	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1402020	1.00[CEU][hapmap]
rs1554401	1.00[CEU][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16942787	1.00[CEU][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17500088	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3785315	1.00[CEU][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes]
rs58004552	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59208924	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59407170	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59614634	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62042187	0.84[ASN][1000 genomes]
rs72790858	0.84[ASN][1000 genomes]
rs73575990	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73579797	0.89[EUR][1000 genomes]
rs8050545	0.80[AMR][1000 genomes];0.92[EUR][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	nsv948640	chr16:64859061-65112790	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2195431	CCDC79	cis	cerebellum	SCAN
rs2195431	CES8	cis	cerebellum	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:64985000-65011000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:64985400-65015200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:64991400-65032600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr16:64998000-65024800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr16:64998400-65014800	Weak transcription	HUVEC	blood vessel
6	chr16:64999200-65010200	Strong transcription	HSMM	muscle
7	chr16:64999200-65017800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr16:64999200-65017800	Strong transcription	NH-A	brain
9	chr16:65000800-65051000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:65001200-65012600	Strong transcription	Fetal Lung	lung
11	chr16:65002400-65015200	Weak transcription	Left Ventricle	heart
12	chr16:65002600-65016000	Weak transcription	Brain Angular Gyrus	brain
13	chr16:65003400-65034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr16:65003800-65016000	Weak transcription	Brain Hippocampus Middle	brain
15	chr16:65004200-65017400	Strong transcription	Osteobl	bone
16	chr16:65004400-65011800	Strong transcription	Fetal Muscle Leg	muscle
17	chr16:65004600-65013400	Weak transcription	Right Ventricle	heart
18	chr16:65004800-65013400	Weak transcription	Brain Substantia Nigra	brain
19	chr16:65004800-65027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr16:65005200-65016000	Weak transcription	Psoas Muscle	Psoas
21	chr16:65005400-65014200	Weak transcription	Fetal Heart	heart
22	chr16:65005800-65010400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr16:65005800-65017200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr16:65006200-65013600	Weak transcription	Fetal Brain Female	brain
25	chr16:65006400-65017800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr16:65006600-65013400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr16:65006600-65013600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr16:65006600-65014200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr16:65006600-65014200	Weak transcription	Ovary	ovary
30	chr16:65006600-65015000	Weak transcription	Aorta	Aorta
31	chr16:65006600-65015600	Weak transcription	HMEC	breast
32	chr16:65006600-65016000	Weak transcription	Placenta	Placenta
33	chr16:65006600-65017400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:65006600-65020600	Weak transcription	Brain Germinal Matrix	brain
35	chr16:65006600-65021000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr16:65006600-65024800	Weak transcription	Spleen	Spleen
37	chr16:65006800-65010000	Weak transcription	NHDF-Ad	bronchial
38	chr16:65006800-65013600	Weak transcription	Fetal Kidney	kidney
39	chr16:65006800-65013600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr16:65006800-65014600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr16:65006800-65017400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr16:65007000-65014200	Weak transcription	Fetal Intestine Large	intestine
43	chr16:65007000-65020200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr16:65007000-65020800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr16:65008400-65013600	Weak transcription	NHLF	lung
46	chr16:65008600-65024000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr16:65008800-65011400	Strong transcription	Fetal Stomach	stomach
48	chr16:65008800-65012200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr16:65009200-65010400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr16:65009200-65010600	Strong transcription	Muscle Satellite Cultured Cells	--

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