Variant report

Variant	rs2331446
Chromosome Location	chr16:65012396-65012397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1025312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10459793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11640810	1.00[CEU][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11646481	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11647164	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12708869	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12923000	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12923516	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12927264	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12931546	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1520233	0.87[GIH][hapmap]
rs1607696	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16968039	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1826821	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1845849	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs185393	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1864147	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2280394	1.00[CEU][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2860056	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35141	0.95[JPT][hapmap]
rs35143	0.95[JPT][hapmap]
rs35153	0.88[ASN][1000 genomes]
rs35181	1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs35183	0.97[ASN][1000 genomes]
rs35184	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs35186	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs35187	0.97[ASN][1000 genomes]
rs35190	0.97[ASN][1000 genomes]
rs35197	0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs3760056	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3826240	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3891307	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4967877	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4967879	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4967881	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7195682	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs973199	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9930786	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.93[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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:64985400-65015200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:64991400-65032600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr16:64998000-65024800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:64998400-65014800	Weak transcription	HUVEC	blood vessel
5	chr16:64999200-65017800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr16:64999200-65017800	Strong transcription	NH-A	brain
7	chr16:65000800-65051000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:65001200-65012600	Strong transcription	Fetal Lung	lung
9	chr16:65002400-65015200	Weak transcription	Left Ventricle	heart
10	chr16:65002600-65016000	Weak transcription	Brain Angular Gyrus	brain
11	chr16:65003400-65034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr16:65003800-65016000	Weak transcription	Brain Hippocampus Middle	brain
13	chr16:65004200-65017400	Strong transcription	Osteobl	bone
14	chr16:65004600-65013400	Weak transcription	Right Ventricle	heart
15	chr16:65004800-65013400	Weak transcription	Brain Substantia Nigra	brain
16	chr16:65004800-65027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr16:65005200-65016000	Weak transcription	Psoas Muscle	Psoas
18	chr16:65005400-65014200	Weak transcription	Fetal Heart	heart
19	chr16:65005800-65017200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr16:65006200-65013600	Weak transcription	Fetal Brain Female	brain
21	chr16:65006400-65017800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr16:65006600-65013400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr16:65006600-65013600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr16:65006600-65014200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr16:65006600-65014200	Weak transcription	Ovary	ovary
26	chr16:65006600-65015000	Weak transcription	Aorta	Aorta
27	chr16:65006600-65015600	Weak transcription	HMEC	breast
28	chr16:65006600-65016000	Weak transcription	Placenta	Placenta
29	chr16:65006600-65017400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:65006600-65020600	Weak transcription	Brain Germinal Matrix	brain
31	chr16:65006600-65021000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr16:65006600-65024800	Weak transcription	Spleen	Spleen
33	chr16:65006800-65013600	Weak transcription	Fetal Kidney	kidney
34	chr16:65006800-65013600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr16:65006800-65014600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr16:65006800-65017400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:65007000-65014200	Weak transcription	Fetal Intestine Large	intestine
38	chr16:65007000-65020200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr16:65007000-65020800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr16:65008400-65013600	Weak transcription	NHLF	lung
41	chr16:65008600-65024000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr16:65009400-65013600	Weak transcription	Brain Anterior Caudate	brain
43	chr16:65009600-65017400	Weak transcription	Fetal Brain Male	brain
44	chr16:65010000-65012400	Enhancers	NHDF-Ad	bronchial
45	chr16:65010400-65016000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:65010600-65015400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr16:65011000-65013000	Strong transcription	HSMM	muscle
48	chr16:65011000-65015800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:65011200-65013400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr16:65011200-65014200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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