Variant report

Variant	rs10483768
Chromosome Location	chr14:63742493-63742494
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10138980	0.95[ASN][1000 genomes]
rs10139434	0.97[ASN][1000 genomes]
rs10148219	0.95[ASN][1000 genomes]
rs10162301	0.81[ASN][1000 genomes]
rs17100956	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17224589	0.80[EUR][1000 genomes]
rs17765428	0.82[EUR][1000 genomes]
rs17824486	0.80[EUR][1000 genomes]
rs17824504	0.80[EUR][1000 genomes]
rs1955670	0.95[ASN][1000 genomes]
rs8013013	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv521404	chr14:63741113-63758106	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 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	chr14:63734200-63742600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:63734400-63749800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:63736600-63750800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:63737200-63755400	Weak transcription	Fetal Intestine Large	intestine
8	chr14:63737400-63751200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:63738000-63757800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:63739400-63759400	Weak transcription	Fetal Intestine Small	intestine
11	chr14:63739600-63743000	Enhancers	Fetal Muscle Leg	muscle
12	chr14:63740400-63743200	Weak transcription	NH-A	brain
13	chr14:63740600-63747400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:63740800-63743000	Weak transcription	Fetal Brain Male	brain
15	chr14:63740800-63747600	Weak transcription	Lung	lung
16	chr14:63740800-63749400	Weak transcription	Brain Angular Gyrus	brain
17	chr14:63740800-63749600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr14:63740800-63750400	Weak transcription	Left Ventricle	heart
19	chr14:63740800-63755400	Weak transcription	Psoas Muscle	Psoas
20	chr14:63740800-63762800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr14:63740800-63768000	Weak transcription	Right Ventricle	heart
22	chr14:63741000-63742800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:63741000-63744800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:63741000-63747000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:63741000-63751000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:63741000-63757600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:63741200-63743400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:63741200-63747600	Weak transcription	Adipose Nuclei	Adipose
29	chr14:63741400-63751200	Weak transcription	Ovary	ovary
30	chr14:63741600-63743400	Weak transcription	Colon Smooth Muscle	Colon
31	chr14:63741600-63745800	Weak transcription	Fetal Lung	lung
32	chr14:63741600-63746800	Weak transcription	Fetal Stomach	stomach
33	chr14:63741800-63746800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr14:63742000-63742800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:63742200-63742800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr14:63742200-63743400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr14:63742200-63743600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr14:63742200-63743600	Genic enhancers	HUVEC	blood vessel
39	chr14:63742400-63742600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr14:63742400-63743600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr14:63742400-63744600	Genic enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links