Variant report

Variant	rs60495706
Chromosome Location	chr14:31208274-31208275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31204344..31206042-chr14:31207737..31209935,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10131312	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10139188	0.94[EUR][1000 genomes]
rs10140887	0.97[EUR][1000 genomes]
rs10143215	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10143362	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10148858	0.91[EUR][1000 genomes]
rs10149721	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483365	0.94[EUR][1000 genomes]
rs11622971	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11624441	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11628284	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628947	0.94[EUR][1000 genomes]
rs1548257	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17096955	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17097068	1.00[EUR][1000 genomes]
rs17097077	0.94[EUR][1000 genomes]
rs17097124	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097127	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17348844	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17364127	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2106101	1.00[ASN][1000 genomes]
rs2124159	1.00[EUR][1000 genomes]
rs2273516	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2273517	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229140	0.91[EUR][1000 genomes]
rs229165	1.00[EUR][1000 genomes]
rs229203	1.00[EUR][1000 genomes]
rs229204	1.00[EUR][1000 genomes]
rs229229	0.91[EUR][1000 genomes]
rs229230	0.91[EUR][1000 genomes]
rs229238	0.91[EUR][1000 genomes]
rs229239	0.91[EUR][1000 genomes]
rs229242	0.91[EUR][1000 genomes]
rs229256	0.91[EUR][1000 genomes]
rs230342	1.00[EUR][1000 genomes]
rs230344	1.00[EUR][1000 genomes]
rs230345	1.00[EUR][1000 genomes]
rs230349	1.00[EUR][1000 genomes]
rs230350	1.00[EUR][1000 genomes]
rs230354	0.94[EUR][1000 genomes]
rs230357	1.00[EUR][1000 genomes]
rs230365	1.00[EUR][1000 genomes]
rs28435745	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28662978	0.94[EUR][1000 genomes]
rs28679478	0.91[EUR][1000 genomes]
rs392101	1.00[EUR][1000 genomes]
rs455614	1.00[EUR][1000 genomes]
rs4981073	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4981075	1.00[EUR][1000 genomes]
rs4981763	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4981768	0.82[AMR][1000 genomes]
rs4981769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57057168	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6571360	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140980	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147237	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7152647	0.88[EUR][1000 genomes]
rs7156485	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158970	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7160985	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7161321	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011610	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8012506	0.94[EUR][1000 genomes]
rs8014225	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs880979	0.88[AMR][1000 genomes];0.91[EUR][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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:31166400-31214200	Weak transcription	Pancreas	Pancrea
4	chr14:31168200-31208600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:31196000-31208800	Weak transcription	HUVEC	blood vessel
6	chr14:31196200-31208600	Weak transcription	Spleen	Spleen
7	chr14:31196400-31208400	Weak transcription	Lung	lung
8	chr14:31196400-31216800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:31199400-31208600	Weak transcription	Fetal Stomach	stomach
10	chr14:31199400-31209000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:31199400-31213400	Weak transcription	Brain Substantia Nigra	brain
12	chr14:31203600-31208400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:31205800-31208600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:31205800-31209200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:31206000-31208600	Weak transcription	NHDF-Ad	bronchial
16	chr14:31206000-31209000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:31206000-31210000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:31206000-31210200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:31206000-31213000	Weak transcription	HSMMtube	muscle
20	chr14:31206200-31208400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:31206200-31208400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:31206200-31208600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:31206200-31208600	Weak transcription	Dnd41	blood
24	chr14:31206200-31208800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:31206200-31208800	Weak transcription	NH-A	brain
26	chr14:31206200-31209000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr14:31206200-31209000	Weak transcription	HSMM	muscle
28	chr14:31206200-31209000	Weak transcription	NHLF	lung
29	chr14:31206200-31209200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:31206200-31209200	Weak transcription	HepG2	liver
31	chr14:31206200-31209400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr14:31206200-31209600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:31206200-31209800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:31206200-31209800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:31206200-31210000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr14:31206200-31210000	Weak transcription	Osteobl	bone
37	chr14:31206200-31210400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:31206200-31212800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:31206200-31212800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:31206200-31216600	Weak transcription	Brain Anterior Caudate	brain
41	chr14:31206400-31208600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr14:31206400-31208800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr14:31206400-31210800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:31206400-31211400	Weak transcription	Adipose Nuclei	Adipose
45	chr14:31206600-31210400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:31207000-31209600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:31208200-31210400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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