Variant report

Variant	rs7157819
Chromosome Location	chr14:56247593-56247594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56245870..56248010-chr14:56260063..56261577,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KTN1-AS1-1	chr14:56247432-56247714	NONHSAT037025

Variant related genes	Relation type
ENSG00000258791	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12880540	0.82[EUR][1000 genomes]
rs17832456	0.86[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.90[TSI][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7142488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7147190	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv901967	chr14:56183127-56252062	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv901968	chr14:56183127-56256651	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv901969	chr14:56183127-56258997	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv901970	chr14:56183127-56265176	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv901971	chr14:56183127-56265176	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv901972	chr14:56185501-56256651	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv901973	chr14:56185908-56252062	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv901974	chr14:56192577-56252062	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv901975	chr14:56192577-56260033	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv901976	chr14:56192577-56265176	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7157819	GNG2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56238800-56251800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:56238800-56256600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:56246000-56248800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:56246200-56247800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:56246200-56248400	Enhancers	HUVEC	blood vessel
6	chr14:56246600-56247600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr14:56246600-56247800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:56246600-56247800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:56246600-56247800	Enhancers	Fetal Muscle Leg	muscle
10	chr14:56246600-56247800	Enhancers	Left Ventricle	heart
11	chr14:56246600-56247800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr14:56246600-56247800	Flanking Active TSS	Hela-S3	cervix
13	chr14:56246600-56248000	Enhancers	Osteobl	bone
14	chr14:56246600-56248200	Enhancers	Fetal Heart	heart
15	chr14:56246600-56248200	Enhancers	Stomach Mucosa	stomach
16	chr14:56246600-56248600	Enhancers	Lung	lung
17	chr14:56246800-56247600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:56246800-56247600	Enhancers	Fetal Brain Male	brain
19	chr14:56246800-56247600	Enhancers	Fetal Stomach	stomach
20	chr14:56246800-56247600	Enhancers	NHDF-Ad	bronchial
21	chr14:56246800-56247800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:56246800-56247800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:56246800-56247800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:56246800-56247800	Enhancers	Adipose Nuclei	Adipose
25	chr14:56246800-56247800	Enhancers	Esophagus	oesophagus
26	chr14:56246800-56247800	Enhancers	Fetal Intestine Small	intestine
27	chr14:56246800-56247800	Enhancers	Fetal Muscle Trunk	muscle
28	chr14:56246800-56247800	Enhancers	Right Atrium	heart
29	chr14:56246800-56247800	Enhancers	Stomach Smooth Muscle	stomach
30	chr14:56246800-56248000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr14:56246800-56248400	Enhancers	NH-A	brain
32	chr14:56246800-56248800	Enhancers	Gastric	stomach
33	chr14:56247000-56247600	Enhancers	Duodenum Mucosa	Duodenum
34	chr14:56247000-56247600	Enhancers	NHEK	skin
35	chr14:56247000-56247800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:56247000-56247800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:56247000-56247800	Enhancers	Ovary	ovary
38	chr14:56247000-56247800	Enhancers	Right Ventricle	heart
39	chr14:56247000-56248400	Enhancers	Pancreas	Pancrea
40	chr14:56247000-56249000	Enhancers	K562	blood
41	chr14:56247000-56249600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:56247200-56247600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:56247200-56248000	Enhancers	Colon Smooth Muscle	Colon
44	chr14:56247400-56247600	Enhancers	Fetal Intestine Large	intestine
45	chr14:56247400-56247600	Enhancers	Placenta	Placenta
46	chr14:56247400-56247800	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr14:56247400-56258400	Weak transcription	Psoas Muscle	Psoas

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