Variant report

Variant	rs1115964
Chromosome Location	chr5:34965682-34965683
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:34957368..34959902-chr5:34962643..34966218,3	K562	blood:
2	chr5:34927641..34929324-chr5:34965646..34968452,2	K562	blood:
3	chr5:34959374..34961766-chr5:34965273..34968026,2	K562	blood:
4	chr5:34927824..34929914-chr5:34965646..34968366,2	K562	blood:

Variant related genes	Relation type
ENSG00000168724	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34349127	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34531945	1.00[ASN][1000 genomes]
rs34852912	1.00[ASN][1000 genomes]
rs55687280	1.00[ASN][1000 genomes]
rs59549906	1.00[ASN][1000 genomes]
rs60000687	1.00[ASN][1000 genomes]
rs66519917	1.00[ASN][1000 genomes]
rs66782186	1.00[ASN][1000 genomes]
rs66891287	1.00[ASN][1000 genomes]
rs66893440	1.00[ASN][1000 genomes]
rs66967212	1.00[ASN][1000 genomes]
rs72732874	1.00[ASN][1000 genomes]
rs72734538	1.00[ASN][1000 genomes]
rs73075084	1.00[ASN][1000 genomes]
rs73075086	1.00[ASN][1000 genomes]
rs930067	1.00[ASN][1000 genomes]
rs930068	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015535	chr5:34798601-34981782	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
2	nsv1021593	chr5:34798601-34983146	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
3	nsv1028968	chr5:34945122-35060319	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv462120	chr5:34948532-35060319	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv597810	chr5:34948532-35060319	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:34931200-34967200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:34951200-34976400	Weak transcription	Psoas Muscle	Psoas
3	chr5:34952200-34967200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:34952200-34967400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:34952200-34969400	Weak transcription	Pancreas	Pancrea
6	chr5:34952200-34986200	Weak transcription	Aorta	Aorta
7	chr5:34952400-34976200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:34953000-34969600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:34953000-34974800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:34953600-34976200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:34954800-34966000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:34954800-34967000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:34954800-34973600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:34955000-34967200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:34955400-34965800	Weak transcription	Primary T cells from cord blood	blood
16	chr5:34955600-34965800	Weak transcription	Primary B cells from cord blood	blood
17	chr5:34955800-34967400	Weak transcription	Placenta	Placenta
18	chr5:34955800-34967600	Weak transcription	NHDF-Ad	bronchial
19	chr5:34955800-34970000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:34956000-34968200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:34958800-34968400	Weak transcription	Hela-S3	cervix
22	chr5:34959800-34967600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:34960000-34966000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:34960800-34970800	Weak transcription	Left Ventricle	heart
25	chr5:34962000-34967200	Weak transcription	Gastric	stomach
26	chr5:34965000-34967200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:34965400-34967200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:34965600-34965800	ZNF genes & repeats	Fetal Kidney	kidney
29	chr5:34965600-34967200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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