Variant report

Variant	rs185393
Chromosome Location	chr16:65024171-65024172
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1025312	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10459793	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11640810	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs11647164	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12708869	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs12923000	0.95[ASN][1000 genomes]
rs1540412	0.84[AMR][1000 genomes]
rs1607696	0.86[ASN][1000 genomes]
rs1826821	0.93[ASN][1000 genomes]
rs2280394	0.91[JPT][hapmap]
rs2331446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2860056	0.93[ASN][1000 genomes]
rs35141	1.00[CEU][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35143	1.00[CEU][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35153	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35181	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35183	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35187	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35190	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35197	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3760056	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3826240	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4967879	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4967881	0.93[ASN][1000 genomes]
rs7195682	0.94[ASN][1000 genomes]
rs973199	0.96[ASN][1000 genomes]
rs9930786	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:64991400-65032600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr16:64998000-65024800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr16:65000800-65051000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:65003400-65034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr16:65004800-65027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:65006600-65024800	Weak transcription	Spleen	Spleen
7	chr16:65014200-65040200	Weak transcription	Fetal Intestine Small	intestine
8	chr16:65015000-65035000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:65016200-65025000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:65016200-65032400	Weak transcription	Lung	lung
11	chr16:65016200-65040200	Weak transcription	Left Ventricle	heart
12	chr16:65017200-65041800	Weak transcription	Colon Smooth Muscle	Colon
13	chr16:65018000-65025400	Weak transcription	Small Intestine	intestine
14	chr16:65018000-65035600	Strong transcription	HSMM	muscle
15	chr16:65018200-65025000	Strong transcription	Ovary	ovary
16	chr16:65018400-65025000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr16:65018400-65028400	Strong transcription	NH-A	brain
18	chr16:65018400-65028600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr16:65018600-65024800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:65018800-65026000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr16:65018800-65035600	Strong transcription	Osteobl	bone
22	chr16:65019000-65028000	Strong transcription	NHDF-Ad	bronchial
23	chr16:65019400-65026800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr16:65019600-65027800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:65020200-65028800	Strong transcription	NHLF	lung
26	chr16:65020400-65024600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:65020400-65026000	Strong transcription	Fetal Stomach	stomach
28	chr16:65020400-65026800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr16:65020400-65027000	Strong transcription	Fetal Brain Female	brain
30	chr16:65020800-65024400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:65021000-65034200	Weak transcription	Adipose Nuclei	Adipose
32	chr16:65021200-65026000	Strong transcription	Aorta	Aorta
33	chr16:65021200-65038200	Weak transcription	Brain Germinal Matrix	brain
34	chr16:65021800-65024600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr16:65021800-65026200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr16:65021800-65027000	Strong transcription	Fetal Brain Male	brain
37	chr16:65022000-65025000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr16:65022000-65041200	Weak transcription	Fetal Heart	heart
39	chr16:65022200-65024800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr16:65022200-65024800	Weak transcription	HMEC	breast
41	chr16:65022200-65025000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr16:65022200-65025400	Weak transcription	Brain Angular Gyrus	brain
43	chr16:65022200-65037200	Weak transcription	Fetal Intestine Large	intestine
44	chr16:65022400-65027800	Strong transcription	Fetal Muscle Leg	muscle
45	chr16:65022600-65025000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr16:65022800-65024200	Weak transcription	Brain Anterior Caudate	brain
47	chr16:65023000-65026000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr16:65023200-65026200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr16:65023400-65025200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:65023400-65025400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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