Variant report

Variant	rs10148219
Chromosome Location	chr14:63736429-63736430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10138980	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139434	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10162301	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10483767	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10483768	0.95[ASN][1000 genomes]
rs11847980	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs1467422	0.82[CEU][hapmap]
rs17100956	0.89[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs17224456	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17765231	0.88[CHB][hapmap]
rs17765362	0.81[ASN][1000 genomes]
rs1955670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955681	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs28696286	0.81[ASN][1000 genomes]
rs57673534	0.91[EUR][1000 genomes]
rs8013013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323434	0.88[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv564893	chr14:63526931-63796122	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1045599	chr14:63540073-63765152	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv516899	chr14:63734499-63753078	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63716000-63754600	Weak transcription	Aorta	Aorta
2	chr14:63717400-63754800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:63730800-63766000	Weak transcription	Spleen	Spleen
4	chr14:63733200-63740200	Weak transcription	Ovary	ovary
5	chr14:63733600-63740200	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:63733800-63742200	Strong transcription	HUVEC	blood vessel
7	chr14:63734000-63740200	Weak transcription	Right Ventricle	heart
8	chr14:63734200-63738600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:63734200-63740000	Weak transcription	Left Ventricle	heart
10	chr14:63734200-63740200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr14:63734200-63742600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:63734400-63738600	Weak transcription	NH-A	brain
13	chr14:63734400-63739800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:63734400-63740000	Weak transcription	Psoas Muscle	Psoas
15	chr14:63734400-63740200	Weak transcription	Lung	lung
16	chr14:63734400-63749800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:63734600-63740400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr14:63735200-63740200	Weak transcription	Brain Angular Gyrus	brain
19	chr14:63735400-63737400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:63735400-63739200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:63735800-63737400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:63735800-63738400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:63735800-63740400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr14:63735800-63741600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:63736000-63737600	Enhancers	Fetal Lung	lung
26	chr14:63736000-63739800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr14:63736000-63740000	Weak transcription	Fetal Brain Male	brain
28	chr14:63736400-63738800	Strong transcription	Fetal Muscle Leg	muscle
29	chr14:63736400-63740200	Strong transcription	Fetal Stomach	stomach

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