Variant report

Variant	rs6498970
Chromosome Location	chr16:65084304-65084305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10852420	0.81[AMR][1000 genomes]
rs11642165	1.00[ASN][1000 genomes]
rs11863441	1.00[ASN][1000 genomes]
rs12708870	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12708871	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs12925656	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes]
rs1402017	1.00[CEU][hapmap]
rs1423995	1.00[ASN][1000 genomes]
rs1560192	1.00[ASN][1000 genomes]
rs1864148	1.00[ASN][1000 genomes]
rs1879261	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs1915116	0.81[AMR][1000 genomes]
rs257338	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257340	1.00[ASN][1000 genomes]
rs257488	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257491	0.92[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257500	1.00[ASN][1000 genomes]
rs35147	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35168	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35194	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35196	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35201	1.00[ASN][1000 genomes]
rs35202	1.00[ASN][1000 genomes]
rs35211	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35212	1.00[ASN][1000 genomes]
rs35213	1.00[ASN][1000 genomes]
rs35217	1.00[ASN][1000 genomes]
rs35221	1.00[ASN][1000 genomes]
rs35222	1.00[ASN][1000 genomes]
rs35223	1.00[ASN][1000 genomes]
rs35225	1.00[ASN][1000 genomes]
rs35228	1.00[ASN][1000 genomes]
rs35229	1.00[ASN][1000 genomes]
rs35230	1.00[ASN][1000 genomes]
rs35231	1.00[ASN][1000 genomes]
rs35232	1.00[ASN][1000 genomes]
rs369139	1.00[ASN][1000 genomes]
rs399975	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40114	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs40117	1.00[ASN][1000 genomes]
rs40327	1.00[ASN][1000 genomes]
rs466915	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6416687	0.87[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6416688	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6416689	0.87[CEU][hapmap]
rs6498969	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6498971	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6498972	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6498975	1.00[CEU][hapmap]
rs6498977	1.00[CEU][hapmap]
rs7185314	1.00[ASN][1000 genomes]
rs7189027	1.00[ASN][1000 genomes]
rs7191190	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7206144	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7404112	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap]
rs7404568	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs7498207	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7498373	0.93[CEU][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7499071	0.87[CEU][hapmap];0.85[GIH][hapmap];0.89[MEX][hapmap]
rs7499444	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7500159	0.83[AMR][1000 genomes]
rs7500420	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7500476	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7500503	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8051995	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052187	1.00[ASN][1000 genomes]
rs8054252	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs8059900	1.00[ASN][1000 genomes]
rs891097	1.00[ASN][1000 genomes]
rs9746754	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs988878	1.00[ASN][1000 genomes]
rs9921084	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65039000-65089600	Weak transcription	Fetal Intestine Large	intestine
2	chr16:65040600-65086000	Weak transcription	HMEC	breast
3	chr16:65058600-65104400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:65069800-65105000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr16:65072800-65088800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr16:65072800-65096200	Weak transcription	Colon Smooth Muscle	Colon
7	chr16:65074400-65084800	Strong transcription	Fetal Lung	lung
8	chr16:65074400-65094000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:65078600-65088200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr16:65079000-65084400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr16:65079000-65085200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:65079000-65093000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr16:65079200-65088000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr16:65079200-65088000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:65079600-65086000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr16:65079600-65087000	Weak transcription	Brain Germinal Matrix	brain
17	chr16:65079600-65087400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr16:65079800-65088000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:65079800-65088000	Weak transcription	Brain Substantia Nigra	brain
20	chr16:65080200-65087000	Weak transcription	Brain Anterior Caudate	brain
21	chr16:65080200-65088000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:65080200-65088200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr16:65080200-65091000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:65080400-65088000	Strong transcription	Osteobl	bone
25	chr16:65080400-65088600	Weak transcription	Spleen	Spleen
26	chr16:65080400-65088800	Weak transcription	Fetal Brain Male	brain
27	chr16:65080600-65086000	Weak transcription	Fetal Muscle Leg	muscle
28	chr16:65081200-65088400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr16:65081600-65087800	Strong transcription	NHDF-Ad	bronchial
30	chr16:65081800-65094800	Weak transcription	Lung	lung
31	chr16:65082000-65088000	Strong transcription	HSMMtube	muscle
32	chr16:65082200-65086600	Weak transcription	Brain Angular Gyrus	brain
33	chr16:65082800-65093200	Strong transcription	NH-A	brain
34	chr16:65083200-65085000	Strong transcription	Fetal Brain Female	brain
35	chr16:65083200-65085800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr16:65083400-65085400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:65083400-65087800	Strong transcription	Aorta	Aorta
38	chr16:65083400-65087800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr16:65083400-65087800	Strong transcription	NHLF	lung
40	chr16:65083400-65088000	Strong transcription	HSMM	muscle
41	chr16:65083400-65088200	Strong transcription	Ovary	ovary
42	chr16:65083400-65088400	Strong transcription	Fetal Kidney	kidney
43	chr16:65083600-65084400	Strong transcription	Brain Hippocampus Middle	brain
44	chr16:65083600-65087400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr16:65083600-65087800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr16:65083600-65088200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:65083800-65084600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr16:65083800-65084600	Strong transcription	Placenta	Placenta
49	chr16:65083800-65087800	Strong transcription	Fetal Stomach	stomach
50	chr16:65083800-65100000	Weak transcription	Rectal Smooth Muscle	rectum

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