Variant report

Variant	rs17696497
Chromosome Location	chr14:39961110-39961111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10130584	0.84[AMR][1000 genomes]
rs10146207	0.92[AMR][1000 genomes]
rs11157065	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11844333	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11844337	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11844410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11845552	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11849739	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11850682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12587760	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12589259	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12590681	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17623137	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17623398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17696146	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17696446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1955725	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2092723	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2094275	0.92[AMR][1000 genomes]
rs2148506	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2182522	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2415548	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4899237	0.90[AMR][1000 genomes]
rs57001152	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6571934	0.95[AMR][1000 genomes]
rs6571935	0.95[AMR][1000 genomes]
rs6571936	0.95[AMR][1000 genomes]
rs7149131	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7151017	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7158384	0.83[AMR][1000 genomes]
rs72677604	0.92[AMR][1000 genomes]
rs72677610	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72677622	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72677624	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72677630	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72677635	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72677640	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72677641	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72677644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72677648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8005849	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8006198	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8010826	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3523177	chr14:39875036-40128325	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3523178	chr14:39875036-40128325	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv832774	chr14:39897746-40060823	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv915558	chr14:39944831-40165370	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv456212	chr14:39957437-40096888	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv564418	chr14:39957437-40096888	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39958200-39964800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:39958200-39968600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:39960200-39961600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr14:39960200-39961600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:39960200-39961800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr14:39960200-39962000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr14:39960400-39961600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:39960400-39961600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr14:39960400-39961800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:39960400-39961800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:39960400-39961800	Enhancers	HSMM	muscle
12	chr14:39960400-39962000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:39960600-39961200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:39960600-39961200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:39960600-39961200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:39960600-39961200	Enhancers	Brain Germinal Matrix	brain
17	chr14:39960600-39961200	Enhancers	Brain Hippocampus Middle	brain
18	chr14:39960600-39961200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr14:39960600-39961200	Enhancers	HSMMtube	muscle
20	chr14:39960600-39961200	Enhancers	NHLF	lung
21	chr14:39960600-39961400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:39960600-39961400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:39960600-39961400	Enhancers	Colon Smooth Muscle	Colon
24	chr14:39960600-39961600	Enhancers	Fetal Heart	heart
25	chr14:39960600-39961600	Enhancers	A549	lung
26	chr14:39960600-39961800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr14:39960600-39961800	Enhancers	Brain Anterior Caudate	brain
28	chr14:39960600-39961800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr14:39960600-39962000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:39960600-39962000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr14:39960600-39962000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:39960600-39962000	Enhancers	NHDF-Ad	bronchial
33	chr14:39960800-39961200	Flanking Active TSS	NH-A	brain
34	chr14:39960800-39961400	Enhancers	Rectal Smooth Muscle	rectum
35	chr14:39960800-39961800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:39960800-39961800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr14:39961000-39961600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:39961000-39961600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr14:39961000-39962000	Enhancers	Osteobl	bone

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