Variant report

Variant	rs34652961
Chromosome Location	chr6:149885585-149885586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr6:149884474-149885590	SK-N-SH	brain:	n/a	chr6:149885246-149885253
2	RUNX3	chr6:149885221-149885658	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149865611..149871097-chr6:149883709..149888968,8	K562	blood:
2	chr6:149865083..149869048-chr6:149884009..149889859,10	MCF-7	breast:
3	chr6:149885317..149886965-chr6:149968680..149971037,2	MCF-7	breast:
4	chr6:149871886..149874097-chr6:149885143..149886769,2	K562	blood:
5	chr6:149863889..149870301-chr6:149880315..149888361,14	K562	blood:
6	chr6:149833219..149834722-chr6:149885011..149886863,2	K562	blood:
7	chr6:149884132..149889842-chr6:149966518..149971305,10	K562	blood:
8	chr6:149884836..149889436-chr6:149966369..149971850,7	K562	blood:
9	chr6:149884840..149889202-chr6:150038504..150040931,4	K562	blood:
10	chr6:149884418..149886657-chr6:150140173..150142192,2	K562	blood:

No data

Variant related genes	Relation type
GINM1	TF binding region
ENSG00000186625	Chromatin interaction
ENSG00000131023	Chromatin interaction
ENSG00000131013	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11961781	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11963075	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17087513	0.92[EUR][1000 genomes]
rs17087543	0.92[EUR][1000 genomes]
rs17087545	0.92[EUR][1000 genomes]
rs17087564	0.82[EUR][1000 genomes]
rs17087579	0.92[EUR][1000 genomes]
rs28366680	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28843181	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924497	0.92[EUR][1000 genomes]
rs6928088	0.82[EUR][1000 genomes]
rs6928699	0.82[EUR][1000 genomes]
rs73602758	0.82[EUR][1000 genomes]
rs73602774	0.82[EUR][1000 genomes]
rs73604755	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73604757	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73604783	0.83[AFR][1000 genomes]
rs7764563	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv966665	chr6:149862756-149895103	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv289	chr6:149864898-149998818	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv5534	chr6:149864898-149998818	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv886762	chr6:149866452-150174507	Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149884000-149886200	Enhancers	Hela-S3	cervix
2	chr6:149884200-149886200	Enhancers	NHLF	lung
3	chr6:149884400-149885600	Enhancers	NHDF-Ad	bronchial
4	chr6:149884400-149885600	Enhancers	Osteobl	bone
5	chr6:149884400-149885800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:149884400-149885800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:149884400-149886200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:149884400-149886200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:149884400-149886200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:149884400-149886200	Enhancers	HMEC	breast
11	chr6:149884400-149886600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr6:149884400-149886600	Enhancers	HUVEC	blood vessel
13	chr6:149884600-149885600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr6:149884600-149885600	Enhancers	A549	lung
15	chr6:149884600-149885600	Enhancers	NH-A	brain
16	chr6:149884600-149886200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:149884800-149886200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:149884800-149886600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:149884800-149886600	Enhancers	HSMM	muscle
20	chr6:149885200-149885600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:149885200-149885600	Enhancers	K562	blood
22	chr6:149885200-149886200	Enhancers	Dnd41	blood
23	chr6:149885200-149886200	Bivalent Enhancer	HepG2	liver
24	chr6:149885200-149886200	Flanking Active TSS	NHEK	skin
25	chr6:149885400-149885600	Flanking Active TSS	GM12878-XiMat	blood
26	chr6:149885400-149886600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:149885400-149886600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:149885400-149886600	Weak transcription	Muscle Satellite Cultured Cells	--

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