Variant report

Variant	rs4393595
Chromosome Location	chr16:65110688-65110689
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	POLR2A	chr16:65110578-65110954	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
CDH11	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1040270	1.00[ASN][1000 genomes]
rs1040271	0.96[ASN][1000 genomes]
rs10500508	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12447201	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12935138	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12935145	0.84[AMR][1000 genomes]
rs1356823	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1520229	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1520230	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1520232	0.85[ASN][1000 genomes]
rs1520234	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1520236	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1532418	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968461	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16968480	0.91[ASN][1000 genomes]
rs1874458	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1874459	0.84[AMR][1000 genomes]
rs1879260	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1915117	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2088285	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2132543	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs257335	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs257336	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs257337	0.84[EUR][1000 genomes]
rs257487	0.84[EUR][1000 genomes]
rs257490	0.83[EUR][1000 genomes]
rs34553411	0.84[ASN][1000 genomes]
rs35054335	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs35177	0.83[EUR][1000 genomes]
rs35178	0.80[EUR][1000 genomes]
rs35179	0.80[EUR][1000 genomes]
rs35180	0.80[EUR][1000 genomes]
rs35709707	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs42863	0.80[EUR][1000 genomes]
rs4967868	0.93[ASN][1000 genomes]
rs4967882	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4967884	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4967885	0.96[ASN][1000 genomes]
rs4967886	1.00[ASN][1000 genomes]
rs62042237	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7204729	0.90[ASN][1000 genomes]
rs7498801	0.93[ASN][1000 genomes]
rs8048351	0.96[ASN][1000 genomes]
rs878359	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs974782	0.84[ASN][1000 genomes]
rs990639	0.84[AMR][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	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65095000-65113400	Weak transcription	Lung	lung
2	chr16:65095800-65152000	Weak transcription	Fetal Intestine Large	intestine
3	chr16:65104600-65116200	Weak transcription	Fetal Intestine Small	intestine
4	chr16:65105200-65113400	Weak transcription	Fetal Kidney	kidney
5	chr16:65105400-65117200	Weak transcription	HMEC	breast
6	chr16:65106200-65114200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:65106200-65115800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr16:65106200-65147400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr16:65106400-65115800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:65106400-65116800	Weak transcription	Brain Hippocampus Middle	brain
11	chr16:65106400-65120000	Weak transcription	Brain Germinal Matrix	brain
12	chr16:65106400-65120400	Weak transcription	Aorta	Aorta
13	chr16:65106400-65128400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:65106400-65147600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr16:65106800-65112200	Strong transcription	Osteobl	bone
16	chr16:65106800-65115800	Weak transcription	HSMM	muscle
17	chr16:65106800-65132400	Weak transcription	HSMMtube	muscle
18	chr16:65106800-65151800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:65107000-65110800	Strong transcription	Fetal Lung	lung
20	chr16:65107000-65115800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:65107000-65117000	Weak transcription	NHDF-Ad	bronchial
22	chr16:65107000-65124000	Weak transcription	NHLF	lung
23	chr16:65107000-65132400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr16:65107400-65132600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:65108000-65112200	Weak transcription	Spleen	Spleen
26	chr16:65108200-65117000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr16:65108800-65113600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:65109200-65112200	Weak transcription	Fetal Brain Male	brain
29	chr16:65109400-65112000	Weak transcription	Brain Angular Gyrus	brain
30	chr16:65109400-65117000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:65109600-65112000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr16:65109600-65112200	Strong transcription	NH-A	brain
33	chr16:65109600-65112600	Weak transcription	Ovary	ovary
34	chr16:65109600-65112600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr16:65109800-65112000	Weak transcription	Brain Substantia Nigra	brain
36	chr16:65109800-65112200	Weak transcription	Brain Anterior Caudate	brain
37	chr16:65110000-65111600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:65110000-65115800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr16:65110000-65116800	Weak transcription	Fetal Brain Female	brain
40	chr16:65110000-65126200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:65110200-65113000	Weak transcription	Fetal Muscle Leg	muscle
42	chr16:65110200-65115800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:65110600-65112600	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links