Variant report

Variant	rs10147416
Chromosome Location	chr14:81851291-81851292
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	chr14:81850220..81853055-chr14:81900012..81901931,2	K562	blood:
2	chr14:81849841..81851536-chr14:81894203..81896873,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1003258	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135926	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12588572	0.87[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1569012	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111790	0.86[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2145123	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2371596	0.80[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28476767	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3825606	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3844533	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3844534	0.86[CHB][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3853419	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3853420	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3853421	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3915222	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4110459	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4110460	0.83[ASN][1000 genomes]
rs4110462	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4275784	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4290414	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs4903982	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574649	0.82[CEU][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574650	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6574651	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7153104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153556	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153600	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160907	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72703752	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72703760	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8018198	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8020806	0.83[ASN][1000 genomes]
rs8022070	0.86[CHB][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9652383	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv902119	chr14:81810945-81884857	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81833200-81858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr14:81834200-81859200	Weak transcription	Placenta	Placenta
3	chr14:81836400-81885800	Weak transcription	Gastric	stomach
4	chr14:81837000-81858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr14:81837600-81856200	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:81847000-81851400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:81847000-81852200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:81847200-81855000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:81847200-81855200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:81847200-81856800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:81848400-81852000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:81849400-81853400	Enhancers	Fetal Kidney	kidney
13	chr14:81849600-81860600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:81849800-81851800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:81849800-81852000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:81849800-81858600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:81850000-81851800	Weak transcription	Brain Anterior Caudate	brain
18	chr14:81850000-81855000	Weak transcription	K562	blood
19	chr14:81850000-81857400	Weak transcription	NHEK	skin
20	chr14:81850000-81858000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:81850200-81851400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:81850200-81852200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:81850400-81864000	Weak transcription	Psoas Muscle	Psoas
24	chr14:81850800-81852000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:81850800-81852200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:81850800-81852200	Enhancers	NHDF-Ad	bronchial
27	chr14:81850800-81853000	Enhancers	Brain Hippocampus Middle	brain
28	chr14:81851000-81852400	Enhancers	Hela-S3	cervix
29	chr14:81851000-81853000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:81851000-81853200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr14:81851000-81853800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:81851000-81856800	Weak transcription	Esophagus	oesophagus
33	chr14:81851000-81858000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr14:81851200-81851600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:81851200-81851600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr14:81851200-81851600	Enhancers	HMEC	breast
37	chr14:81851200-81851800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:81851200-81851800	Weak transcription	Adipose Nuclei	Adipose
39	chr14:81851200-81852000	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr14:81851200-81852400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:81851200-81852600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:81851200-81853000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr14:81851200-81853200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:81851200-81854000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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