Variant report

Variant	rs35230
Chromosome Location	chr16:65004236-65004237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11642165	1.00[ASN][1000 genomes]
rs11863441	1.00[ASN][1000 genomes]
rs12708870	1.00[ASN][1000 genomes]
rs1423995	1.00[ASN][1000 genomes]
rs1560192	1.00[ASN][1000 genomes]
rs1864148	1.00[ASN][1000 genomes]
rs257338	1.00[ASN][1000 genomes]
rs257340	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257488	1.00[ASN][1000 genomes]
rs257491	1.00[ASN][1000 genomes]
rs257500	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35141	0.83[YRI][hapmap]
rs35143	0.82[YRI][hapmap]
rs35147	1.00[ASN][1000 genomes]
rs35168	1.00[ASN][1000 genomes]
rs35194	1.00[ASN][1000 genomes]
rs35196	1.00[ASN][1000 genomes]
rs35201	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35202	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35211	1.00[ASN][1000 genomes]
rs35212	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35213	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35217	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35220	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35221	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35222	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35225	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35229	0.95[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35231	0.86[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35232	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs369139	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs399975	1.00[ASN][1000 genomes]
rs40117	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40327	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs466915	1.00[ASN][1000 genomes]
rs4967866	0.82[YRI][hapmap]
rs6416687	1.00[ASN][1000 genomes]
rs6498969	1.00[ASN][1000 genomes]
rs6498970	1.00[ASN][1000 genomes]
rs6498971	1.00[ASN][1000 genomes]
rs7185314	1.00[ASN][1000 genomes]
rs7189027	1.00[ASN][1000 genomes]
rs7498207	1.00[ASN][1000 genomes]
rs7498373	1.00[ASN][1000 genomes]
rs7499444	1.00[ASN][1000 genomes]
rs7500503	1.00[ASN][1000 genomes]
rs8051995	1.00[ASN][1000 genomes]
rs8052187	1.00[ASN][1000 genomes]
rs8059900	1.00[ASN][1000 genomes]
rs891097	1.00[ASN][1000 genomes]
rs9746754	1.00[ASN][1000 genomes]
rs988878	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9921084	1.00[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	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

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:64980000-65005200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr16:64983200-65004400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:64984800-65004600	Weak transcription	Fetal Brain Female	brain
4	chr16:64984800-65005400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr16:64985000-65004400	Weak transcription	Fetal Intestine Large	intestine
6	chr16:64985000-65005200	Weak transcription	Brain Germinal Matrix	brain
7	chr16:64985000-65005800	Weak transcription	Aorta	Aorta
8	chr16:64985000-65011000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:64985200-65004400	Weak transcription	Fetal Brain Male	brain
10	chr16:64985400-65004400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:64985400-65005800	Weak transcription	Spleen	Spleen
12	chr16:64985400-65015200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:64991400-65032600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr16:64995000-65004400	Weak transcription	Fetal Muscle Leg	muscle
15	chr16:64998000-65024800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:64998400-65004400	Weak transcription	HMEC	breast
17	chr16:64998400-65014800	Weak transcription	HUVEC	blood vessel
18	chr16:64999200-65010200	Strong transcription	HSMM	muscle
19	chr16:64999200-65017800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:64999200-65017800	Strong transcription	NH-A	brain
21	chr16:64999600-65005000	Weak transcription	Fetal Kidney	kidney
22	chr16:65000000-65005000	Weak transcription	Placenta	Placenta
23	chr16:65000800-65051000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr16:65001200-65006800	Strong transcription	Stomach Smooth Muscle	stomach
25	chr16:65001200-65007000	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr16:65001200-65012600	Strong transcription	Fetal Lung	lung
27	chr16:65002200-65005400	Enhancers	Fetal Heart	heart
28	chr16:65002400-65015200	Weak transcription	Left Ventricle	heart
29	chr16:65002600-65004800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:65002600-65004800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:65002600-65005800	Weak transcription	Fetal Stomach	stomach
32	chr16:65002600-65016000	Weak transcription	Brain Angular Gyrus	brain
33	chr16:65003000-65005400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr16:65003000-65006200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr16:65003000-65007400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr16:65003000-65008400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr16:65003200-65004400	Enhancers	Brain Substantia Nigra	brain
38	chr16:65003200-65008400	Strong transcription	NHLF	lung
39	chr16:65003400-65006800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr16:65003400-65034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr16:65003600-65005800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:65003600-65006800	Strong transcription	NHDF-Ad	bronchial
43	chr16:65003800-65006600	Strong transcription	Ovary	ovary
44	chr16:65003800-65016000	Weak transcription	Brain Hippocampus Middle	brain
45	chr16:65004000-65006400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:65004000-65006600	Weak transcription	Esophagus	oesophagus
47	chr16:65004000-65006800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:65004000-65007000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr16:65004200-65005800	Strong transcription	Brain Cingulate Gyrus	brain
50	chr16:65004200-65006600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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