Variant report

Variant	rs12935138
Chromosome Location	chr16:65115210-65115211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1040270	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1040271	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10500508	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1356823	0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1520232	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1520236	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1532418	1.00[ASN][1000 genomes]
rs16968461	0.96[ASN][1000 genomes]
rs16968480	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1874457	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1915117	0.96[ASN][1000 genomes]
rs2088285	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2132543	0.92[ASN][1000 genomes]
rs2280396	0.80[AMR][1000 genomes]
rs34553411	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35054335	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35709707	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4393595	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4967868	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4967884	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4967885	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4967886	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204729	0.90[ASN][1000 genomes]
rs7498801	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8048351	0.96[ASN][1000 genomes]
rs974782	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[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	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65095800-65152000	Weak transcription	Fetal Intestine Large	intestine
2	chr16:65104600-65116200	Weak transcription	Fetal Intestine Small	intestine
3	chr16:65105400-65117200	Weak transcription	HMEC	breast
4	chr16:65106200-65115800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr16:65106200-65147400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr16:65106400-65115800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:65106400-65116800	Weak transcription	Brain Hippocampus Middle	brain
8	chr16:65106400-65120000	Weak transcription	Brain Germinal Matrix	brain
9	chr16:65106400-65120400	Weak transcription	Aorta	Aorta
10	chr16:65106400-65128400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:65106400-65147600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr16:65106800-65115800	Weak transcription	HSMM	muscle
13	chr16:65106800-65132400	Weak transcription	HSMMtube	muscle
14	chr16:65106800-65151800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:65107000-65115800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr16:65107000-65117000	Weak transcription	NHDF-Ad	bronchial
17	chr16:65107000-65124000	Weak transcription	NHLF	lung
18	chr16:65107000-65132400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:65107400-65132600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:65108200-65117000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr16:65109400-65117000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr16:65110000-65115800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:65110000-65116800	Weak transcription	Fetal Brain Female	brain
24	chr16:65110000-65126200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:65110200-65115800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:65112200-65115800	Weak transcription	Osteobl	bone
27	chr16:65112600-65116600	Weak transcription	Brain Substantia Nigra	brain
28	chr16:65112800-65117200	Weak transcription	Brain Anterior Caudate	brain
29	chr16:65112800-65127400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr16:65113200-65141600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr16:65113600-65115800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:65113600-65115800	Weak transcription	Ovary	ovary
33	chr16:65113600-65117000	Weak transcription	Brain Angular Gyrus	brain
34	chr16:65113600-65119200	Weak transcription	NH-A	brain
35	chr16:65113600-65128600	Weak transcription	Fetal Kidney	kidney
36	chr16:65113600-65136400	Weak transcription	Spleen	Spleen
37	chr16:65113600-65138800	Weak transcription	Fetal Muscle Leg	muscle
38	chr16:65113800-65116000	Weak transcription	Fetal Lung	lung
39	chr16:65113800-65140400	Weak transcription	Fetal Brain Male	brain
40	chr16:65114000-65115600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr16:65114200-65115800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr16:65115000-65118400	Strong transcription	Fetal Stomach	stomach

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