Variant report

Variant	rs34042687
Chromosome Location	chr7:116623038-116623039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:115847372-115857098..7:116619447-116625476	H1-hESC	embryonic stem cell:	embryo
2	chr7:116622424..116624460-chr7:116654267..116655825,2	K562	blood:
3	7:115929516-115931284..7:116619447-116625476	H1-hESC	embryonic stem cell:	embryo
4	7:115861595-115870968..7:116619447-116625476	Hela-S3	cervix:
5	chr7:116589813..116597334-chr7:116621638..116628770,10	K562	blood:
6	chr7:116617343..116619582-chr7:116622869..116626558,3	K562	blood:
7	7:116434729-116454408..7:116619447-116625476	H1-hESC	embryonic stem cell:	embryo
8	7:116604327-116608063..7:116619447-116625476	H1-hESC	embryonic stem cell:	embryo
9	chr7:116622535..116624065-chr7:116762723..116764225,2	MCF-7	breast:
10	7:116619447-116625476..7:116728195-116740907	K562	blood:
11	chr7:116591116..116596210-chr7:116619506..116625274,6	K562	blood:
12	7:116619447-116625476..7:116754962-116765597	GM12878	blood:
13	7:115890993-115892266..7:116619447-116625476	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000004866	Chromatin interaction
ENSG00000135269	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000226367	Chromatin interaction
ENSG00000227199	Chromatin interaction
ENSG00000228368	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000105971	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11762032	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764134	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11765198	0.81[EUR][1000 genomes]
rs11773591	0.87[ASN][1000 genomes]
rs12706124	0.85[EUR][1000 genomes]
rs12706125	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12706126	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12706127	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12706134	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706135	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706136	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12706137	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706138	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12706139	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706140	0.86[ASN][1000 genomes]
rs12706141	0.86[ASN][1000 genomes]
rs13222576	0.89[ASN][1000 genomes]
rs13222912	0.86[ASN][1000 genomes]
rs13235739	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13239447	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13243111	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13308921	0.86[ASN][1000 genomes]
rs66758829	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71544773	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1005081	chr7:116618938-116626233	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116597000-116641600	Weak transcription	Ovary	ovary
2	chr7:116598800-116630400	Weak transcription	Aorta	Aorta
3	chr7:116607600-116632400	Weak transcription	Gastric	stomach
4	chr7:116609000-116627400	Weak transcription	Placenta	Placenta
5	chr7:116610600-116638800	Weak transcription	Hela-S3	cervix
6	chr7:116610800-116626800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:116612000-116632000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:116612200-116623400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:116612200-116628800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:116612800-116623600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:116613000-116623400	Weak transcription	Left Ventricle	heart
12	chr7:116613600-116635600	Weak transcription	Pancreas	Pancrea
13	chr7:116613600-116647000	Weak transcription	Right Atrium	heart
14	chr7:116617000-116626600	Weak transcription	NHLF	lung
15	chr7:116617600-116626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:116618200-116623400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:116618400-116626200	Weak transcription	NHDF-Ad	bronchial
18	chr7:116619600-116627000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:116619800-116627000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr7:116619800-116627200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:116620400-116626800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:116620600-116626800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:116620800-116626800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:116622200-116625400	Weak transcription	Fetal Heart	heart
25	chr7:116622400-116624600	Weak transcription	GM12878-XiMat	blood
26	chr7:116622400-116626200	Weak transcription	NHEK	skin
27	chr7:116622400-116626600	Weak transcription	HMEC	breast
28	chr7:116622400-116627000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:116622600-116633600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:116622800-116625800	Weak transcription	Primary monocytes fromperipheralblood	blood

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