Variant report

Variant	rs7326807
Chromosome Location	chr13:76122902-76122903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr13:76122548-76124962	IMR90	lung:	n/a	n/a
2	RCOR1	chr13:76122686-76123679	K562	blood:	n/a	n/a
3	CTCF	chr13:76122734-76124088	A549	lung:	n/a	n/a
4	CTCF	chr13:76122619-76124680	SK-N-SH	brain:	n/a	n/a
5	MXI1	chr13:76122617-76124934	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:76111452..76114150-chr13:76122087..76125338,6	MCF-7	breast:
2	chr13:76055137..76056712-chr13:76122225..76124650,2	MCF-7	breast:
3	chr13:76109717..76113590-chr13:76122029..76126081,5	MCF-7	breast:

Variant related genes	Relation type
UCHL3	TF binding region
ENSG00000261553	TF binding region
ENSG00000136111	Chromatin interaction
ENSG00000188243	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11840945	0.86[ASN][1000 genomes]
rs12866456	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12872149	0.86[ASN][1000 genomes]
rs1323696	1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs1535726	0.83[ASN][1000 genomes]
rs2031235	1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2274049	0.83[ASN][1000 genomes]
rs2281762	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2328961	1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs2328962	1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3812844	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3812845	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812846	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4539477	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs4884008	1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4885312	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4885313	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4885314	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4885319	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs4885321	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs4885328	0.83[ASN][1000 genomes]
rs4885330	0.82[ASN][1000 genomes]
rs4885331	0.82[ASN][1000 genomes]
rs4885332	0.82[ASN][1000 genomes]
rs4885333	0.82[ASN][1000 genomes]
rs61960594	0.83[ASN][1000 genomes]
rs6562912	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6562920	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7139862	1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7317893	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7319334	0.84[CHB][hapmap]
rs7319441	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7331205	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7358977	1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7982534	0.99[ASN][1000 genomes]
rs7982613	1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs7984443	1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs7995040	0.84[CHB][hapmap]
rs7995889	0.95[ASN][1000 genomes]
rs8000062	1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs8192738	1.00[ASN][1000 genomes]
rs8192741	1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8192746	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs8192747	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8192748	0.82[CHB][hapmap];0.83[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8192751	0.90[ASN][1000 genomes]
rs8192753	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs9318357	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9318358	0.81[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9530450	0.83[ASN][1000 genomes]
rs9530453	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs9530456	0.81[ASN][1000 genomes]
rs9543969	0.84[CHB][hapmap]
rs9543976	0.83[YRI][hapmap]
rs9543980	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9543994	1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs9543996	0.86[ASN][1000 genomes]
rs9543997	0.86[ASN][1000 genomes]
rs9543999	0.83[ASN][1000 genomes]
rs9544008	0.83[ASN][1000 genomes]
rs9565175	0.90[ASN][1000 genomes]
rs9573580	0.84[CHB][hapmap]
rs9573584	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9573590	0.85[ASN][1000 genomes]
rs9635000	0.85[ASN][1000 genomes]
rs966058	1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs966059	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs972542	1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs975938	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	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
4	nsv900564	chr13:76100090-76156136	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv900565	chr13:76111280-76169347	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76112200-76123000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:76112600-76123000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr13:76112600-76123000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:76112600-76123600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:76112800-76123000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:76112800-76123000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:76112800-76123000	Weak transcription	Adipose Nuclei	Adipose
8	chr13:76116000-76123000	Weak transcription	GM12878-XiMat	blood
9	chr13:76116400-76123200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr13:76119400-76123000	Weak transcription	Fetal Kidney	kidney
11	chr13:76119400-76123000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr13:76119600-76123000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:76119600-76123000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:76119600-76123000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:76119600-76123000	Weak transcription	Liver	Liver
16	chr13:76119600-76123000	Weak transcription	Hela-S3	cervix
17	chr13:76119600-76123000	Weak transcription	HMEC	breast
18	chr13:76119600-76123000	Weak transcription	NHDF-Ad	bronchial
19	chr13:76119600-76123000	Weak transcription	NHEK	skin
20	chr13:76119600-76123200	Weak transcription	NHLF	lung
21	chr13:76120000-76123000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:76120000-76123000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:76120000-76123000	Weak transcription	Psoas Muscle	Psoas
24	chr13:76120000-76123200	Weak transcription	Placenta	Placenta
25	chr13:76120600-76123000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr13:76120800-76123000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr13:76121000-76123000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr13:76121200-76123000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:76121600-76123200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr13:76121800-76123200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr13:76122000-76123200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr13:76122000-76123600	Flanking Active TSS	Dnd41	blood
33	chr13:76122200-76123200	Weak transcription	Fetal Intestine Small	intestine
34	chr13:76122400-76123000	Enhancers	Brain Angular Gyrus	brain
35	chr13:76122600-76123000	Enhancers	Brain Hippocampus Middle	brain
36	chr13:76122600-76123000	Active TSS	K562	blood
37	chr13:76122800-76123000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:76122800-76123000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr13:76122800-76123000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr13:76122800-76123000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr13:76122800-76123000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr13:76122800-76123000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:76122800-76123000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr13:76122800-76123000	Enhancers	Fetal Brain Male	brain
45	chr13:76122800-76123000	Active TSS	Fetal Brain Female	brain
46	chr13:76122800-76123000	Enhancers	HSMM	muscle
47	chr13:76122800-76123200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr13:76122800-76123200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:76122800-76123200	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr13:76122800-76123200	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links