Variant report

Variant	rs8049948
Chromosome Location	chr16:65098327-65098328
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	POLR2A	chr16:65097608-65098428	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
CDH11	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1006857	1.00[CEU][hapmap];1.00[MEX][hapmap];0.86[EUR][1000 genomes]
rs10500506	0.88[ASW][hapmap];0.84[MKK][hapmap];0.90[YRI][hapmap]
rs10500507	1.00[CEU][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];0.91[EUR][1000 genomes]
rs11862311	0.90[YRI][hapmap];0.80[AFR][1000 genomes]
rs11866929	0.90[YRI][hapmap]
rs16968351	0.90[YRI][hapmap]
rs16968359	0.90[YRI][hapmap]
rs16968386	0.90[YRI][hapmap];0.94[AFR][1000 genomes]
rs16968437	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs16968457	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs16968465	1.00[CEU][hapmap];1.00[MEX][hapmap];0.87[EUR][1000 genomes]
rs16968466	1.00[CEU][hapmap];1.00[MEX][hapmap];0.91[EUR][1000 genomes]
rs16968468	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs16968474	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs60684738	0.91[EUR][1000 genomes]
rs6498967	0.90[YRI][hapmap]
rs6498973	1.00[CEU][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6498974	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7192855	0.81[ASW][hapmap];0.84[MKK][hapmap];0.90[YRI][hapmap]
rs7192859	0.90[YRI][hapmap]
rs7198314	0.90[YRI][hapmap]
rs7199362	1.00[CEU][hapmap]
rs74026248	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs74026252	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs8050117	0.90[YRI][hapmap]
rs8056507	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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
2	nsv833260	chr16:65050647-65218759	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1831	chr16:65071976-65106105	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65058600-65104400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:65069800-65105000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr16:65083800-65100000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr16:65087400-65104800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr16:65087800-65100600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr16:65087800-65102000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr16:65087800-65103600	Weak transcription	Aorta	Aorta
8	chr16:65088200-65101600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr16:65089400-65101200	Weak transcription	Fetal Brain Male	brain
10	chr16:65090400-65099800	Enhancers	Brain Cingulate Gyrus	brain
11	chr16:65092000-65098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:65092200-65102600	Enhancers	Brain Angular Gyrus	brain
13	chr16:65093400-65099800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr16:65093800-65103600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:65094000-65100200	Enhancers	Brain Anterior Caudate	brain
16	chr16:65094000-65100200	Enhancers	Brain Substantia Nigra	brain
17	chr16:65094200-65099800	Enhancers	Brain Hippocampus Middle	brain
18	chr16:65094600-65098400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr16:65094600-65101200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr16:65095000-65113400	Weak transcription	Lung	lung
21	chr16:65095800-65152000	Weak transcription	Fetal Intestine Large	intestine
22	chr16:65096200-65101600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:65096200-65104800	Weak transcription	Fetal Kidney	kidney
24	chr16:65096600-65101400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:65096800-65100000	Weak transcription	Colon Smooth Muscle	Colon
26	chr16:65096800-65100800	Weak transcription	Fetal Brain Female	brain
27	chr16:65097000-65098600	Strong transcription	HSMMtube	muscle
28	chr16:65097000-65100800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr16:65097000-65101200	Weak transcription	Brain Germinal Matrix	brain
30	chr16:65097200-65100200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:65097200-65101400	Genic enhancers	Fetal Lung	lung
32	chr16:65097200-65102000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr16:65097600-65100400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:65097600-65101400	Strong transcription	HSMM	muscle
35	chr16:65097800-65098400	Enhancers	HMEC	breast
36	chr16:65097800-65098600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:65097800-65099000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:65097800-65100400	Strong transcription	Fetal Stomach	stomach
39	chr16:65097800-65101000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr16:65098000-65099000	Enhancers	NHEK	skin
41	chr16:65098000-65099200	Strong transcription	Fetal Muscle Leg	muscle
42	chr16:65098200-65098800	Weak transcription	Ovary	ovary
43	chr16:65098200-65099600	Weak transcription	Spleen	Spleen
44	chr16:65098200-65099800	Strong transcription	NH-A	brain
45	chr16:65098200-65101000	Strong transcription	Osteobl	bone
46	chr16:65098200-65101800	Weak transcription	NHLF	lung
47	chr16:65098200-65102000	Weak transcription	NHDF-Ad	bronchial
48	chr16:65098200-65103600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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