Variant report

Variant	rs788646
Chromosome Location	chr4:119223646-119223647
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119214808..119216964-chr4:119222991..119224526,2	K562	blood:
2	chr4:119223167..119225412-chr4:119228063..119230153,3	K562	blood:
3	chr4:119199430..119201797-chr4:119223189..119228856,5	K562	blood:

Variant related genes	Relation type
ENSG00000269893	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12503632	0.85[ASN][1000 genomes]
rs12506555	0.88[EUR][1000 genomes]
rs12509230	0.88[EUR][1000 genomes]
rs17626497	0.87[EUR][1000 genomes]
rs3107483	0.88[EUR][1000 genomes]
rs35159999	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs35789417	0.82[EUR][1000 genomes]
rs609512	0.88[EUR][1000 genomes]
rs611659	0.88[EUR][1000 genomes]
rs615517	0.88[EUR][1000 genomes]
rs617430	0.88[EUR][1000 genomes]
rs623035	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs631271	0.86[EUR][1000 genomes]
rs633398	0.88[EUR][1000 genomes]
rs640713	0.88[EUR][1000 genomes]
rs658642	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs662581	0.88[EUR][1000 genomes]
rs673682	0.88[EUR][1000 genomes]
rs687492	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs705837	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs788649	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs788663	0.88[EUR][1000 genomes]
rs788666	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs788667	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs788670	0.89[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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs788646	SNHG8	cis	Muscle Skeletal	GTEx
rs788646	SNHG8	cis	Skin Sun Exposed Lower leg	GTEx
rs788646	SNHG8	cis	Thyroid	GTEx
rs788646	SNHG8	cis	Heart Left Ventricle	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119201400-119223800	Weak transcription	Gastric	stomach
2	chr4:119202200-119225000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:119202800-119267200	Weak transcription	Stomach Mucosa	stomach
4	chr4:119203400-119228200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:119209600-119258600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:119210000-119259200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:119210200-119258600	Weak transcription	HMEC	breast
8	chr4:119212600-119259200	Weak transcription	NHEK	skin
9	chr4:119213000-119240600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:119216400-119234200	Weak transcription	NHLF	lung
11	chr4:119216400-119249800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:119216600-119244000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:119217400-119243400	Weak transcription	Fetal Lung	lung
14	chr4:119217600-119233400	Weak transcription	NHDF-Ad	bronchial
15	chr4:119220200-119226600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:119220200-119227000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:119220200-119227200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:119220200-119227600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:119220200-119234200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:119220200-119240200	Weak transcription	Osteobl	bone
21	chr4:119220200-119260000	Weak transcription	Rectal Mucosa Donor 31	rectum

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