Variant report

Variant	rs7930865
Chromosome Location	chr11:77724674-77724675
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72941385	0.83[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	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv520740	chr11:77553638-77997936	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv1035753	chr11:77577384-77866386	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv541093	chr11:77577384-77866386	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv516638	chr11:77724674-77763789	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7930865	INTS4	Cis_1M	lymphoblastoid	RTeQTL
rs7930865	DNAJB13	cis	parietal	SCAN
rs7930865	THRSP	cis	cerebellum	SCAN
rs7930865	ALG8	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77711600-77727000	Weak transcription	Pancreas	Pancrea
2	chr11:77719600-77733200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:77722200-77726400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:77722200-77727000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr11:77722200-77727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:77722400-77727800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:77722400-77733400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:77722600-77726600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:77722800-77727000	Weak transcription	HepG2	liver
10	chr11:77723800-77726400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:77724000-77726400	Weak transcription	Liver	Liver
12	chr11:77724000-77726600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:77724200-77730600	Weak transcription	Stomach Mucosa	stomach
14	chr11:77724400-77726200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:77724400-77726400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:77724400-77726600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:77724400-77726600	Weak transcription	Fetal Kidney	kidney
18	chr11:77724400-77733400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:77724600-77726400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:77724600-77726400	Weak transcription	Placenta	Placenta
21	chr11:77724600-77726800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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