Variant report

Variant	rs1040271
Chromosome Location	chr16:65123754-65123755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1006857	0.84[LWK][hapmap]
rs1040270	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10500508	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1079008	0.93[JPT][hapmap]
rs12935138	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1356823	0.82[ASN][1000 genomes]
rs1520229	0.86[JPT][hapmap]
rs1520230	0.86[JPT][hapmap]
rs1520231	0.93[JPT][hapmap]
rs1520232	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1520234	0.86[JPT][hapmap]
rs1520236	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520243	0.86[JPT][hapmap]
rs1532418	1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs16968461	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16968465	0.84[LWK][hapmap]
rs16968466	0.84[LWK][hapmap]
rs16968480	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1850966	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1874457	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1915117	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs2088285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2132543	0.94[ASN][1000 genomes]
rs2280396	0.92[CEU][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs257335	0.86[JPT][hapmap]
rs257336	0.86[JPT][hapmap]
rs257337	0.86[JPT][hapmap]
rs257490	0.86[JPT][hapmap]
rs34553411	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35054335	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35176	0.92[CEU][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs35203	0.85[JPT][hapmap]
rs35709707	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4393595	0.96[ASN][1000 genomes]
rs4967868	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4967882	0.86[JPT][hapmap]
rs4967884	0.82[ASN][1000 genomes]
rs4967885	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4967886	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59954387	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7204729	0.87[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs7498801	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8048351	0.93[ASN][1000 genomes]
rs878359	0.86[JPT][hapmap]
rs974782	0.92[CEU][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9935608	0.86[JPT][hapmap]

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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65095800-65152000	Weak transcription	Fetal Intestine Large	intestine
2	chr16:65106200-65147400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr16:65106400-65128400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:65106400-65147600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr16:65106800-65132400	Weak transcription	HSMMtube	muscle
6	chr16:65106800-65151800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:65107000-65124000	Weak transcription	NHLF	lung
8	chr16:65107000-65132400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr16:65107400-65132600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:65110000-65126200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:65112800-65127400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr16:65113200-65141600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr16:65113600-65128600	Weak transcription	Fetal Kidney	kidney
14	chr16:65113600-65136400	Weak transcription	Spleen	Spleen
15	chr16:65113600-65138800	Weak transcription	Fetal Muscle Leg	muscle
16	chr16:65113800-65140400	Weak transcription	Fetal Brain Male	brain
17	chr16:65115800-65147600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:65116400-65136800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:65117400-65131200	Weak transcription	Brain Anterior Caudate	brain
20	chr16:65117400-65141000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr16:65117600-65126400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr16:65118000-65124200	Weak transcription	NHDF-Ad	bronchial
23	chr16:65118000-65132600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr16:65118400-65138400	Weak transcription	Fetal Stomach	stomach
25	chr16:65119200-65129000	Weak transcription	Ovary	ovary
26	chr16:65119400-65131000	Weak transcription	Placenta	Placenta
27	chr16:65119600-65124400	Strong transcription	Osteobl	bone
28	chr16:65120200-65124000	Weak transcription	Brain Germinal Matrix	brain
29	chr16:65120200-65128600	Weak transcription	NH-A	brain
30	chr16:65120800-65148600	Weak transcription	Aorta	Aorta
31	chr16:65121200-65124200	Weak transcription	Fetal Lung	lung
32	chr16:65121800-65124400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:65122000-65128600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr16:65122200-65124000	Weak transcription	HSMM	muscle
35	chr16:65122200-65126000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr16:65122200-65147400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr16:65123200-65124000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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