Variant report

Variant	rs7319334
Chromosome Location	chr13:76097291-76097292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76095939..76098463-chr13:76110881..76113865,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188243	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1080346	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1080347	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12866456	0.84[CHB][hapmap]
rs1323694	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1323696	0.84[CHB][hapmap]
rs1408042	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1535728	1.00[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs2031235	0.84[CHB][hapmap]
rs2281762	0.84[CHB][hapmap]
rs2328961	0.83[CHB][hapmap]
rs2328962	0.84[CHB][hapmap]
rs2876705	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3812844	0.84[CHB][hapmap]
rs3812845	0.84[CHB][hapmap]
rs3812846	0.83[CHB][hapmap]
rs4884008	0.84[CHB][hapmap]
rs4885319	0.84[CHB][hapmap]
rs4885321	0.84[CHB][hapmap]
rs6562903	1.00[ASN][1000 genomes]
rs7139862	0.84[CHB][hapmap]
rs7319227	1.00[ASN][1000 genomes]
rs7326807	0.84[CHB][hapmap]
rs7358977	0.84[CHB][hapmap]
rs7982613	0.84[CHB][hapmap]
rs7984443	0.84[CHB][hapmap]
rs7995040	0.94[CHB][hapmap];0.98[CHD][hapmap];0.86[ASN][1000 genomes]
rs8000062	0.82[CHB][hapmap]
rs8192741	0.84[CHB][hapmap]
rs8192746	0.84[CHB][hapmap]
rs9530453	0.84[CHB][hapmap]
rs9543951	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9543966	0.83[ASN][1000 genomes]
rs9543969	0.94[CHB][hapmap];0.95[CHD][hapmap];0.86[ASN][1000 genomes]
rs9543970	0.83[ASN][1000 genomes]
rs9543971	0.82[ASN][1000 genomes]
rs9543994	0.84[CHB][hapmap]
rs9573580	0.94[CHB][hapmap];0.95[CHD][hapmap];0.88[ASN][1000 genomes]
rs966058	0.84[CHB][hapmap]
rs972542	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic 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	12 gene(s)	inside rSNPs	diseases
3	nsv900563	chr13:76093935-76169347	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7319334	COMMD6	cis	cerebellum	SCAN
rs7319334	UCHL3	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76089000-76099400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr13:76089000-76104800	Weak transcription	NHDF-Ad	bronchial
3	chr13:76089200-76099400	Weak transcription	Dnd41	blood
4	chr13:76093600-76109400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:76094400-76101800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:76095600-76109200	Weak transcription	Gastric	stomach
7	chr13:76095800-76111400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:76096000-76099200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr13:76096000-76099400	Weak transcription	Fetal Thymus	thymus
10	chr13:76096000-76099600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr13:76096200-76099400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr13:76096200-76099400	Weak transcription	Thymus	Thymus
13	chr13:76096400-76099200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr13:76096400-76099400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr13:76096400-76099400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr13:76096400-76099600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr13:76096600-76099400	Weak transcription	Adipose Nuclei	Adipose
18	chr13:76096600-76099400	Weak transcription	Fetal Muscle Leg	muscle
19	chr13:76096600-76099400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr13:76096600-76099600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr13:76096600-76099600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr13:76096600-76101800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr13:76096600-76107400	Weak transcription	Fetal Intestine Small	intestine
24	chr13:76096600-76110400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr13:76096600-76111400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:76096800-76104400	Weak transcription	Primary B cells from cord blood	blood
27	chr13:76097000-76099600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:76097000-76099800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr13:76097000-76111000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr13:76097000-76111600	Weak transcription	Spleen	Spleen
31	chr13:76097200-76099400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr13:76097200-76100000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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