Variant report

Variant	rs4773094
Chromosome Location	chr13:110441483-110441484
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	MXI1	chr13:110440507-110442308	SK-N-SH	brain:	n/a	n/a
2	MYC	chr13:110441059-110441925	NB4	blood:	n/a	n/a
3	POLR2A	chr13:110440797-110441596	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr13:110441323-110441523	MCF10A-Er-Src	breast:	n/a	n/a
5	TCF7L2	chr13:110440683-110441752	HEK293	kidney:	n/a	chr13:110441052-110441066

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110355569..110358710-chr13:110439541..110442319,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A2-3	chr13:110439457-110442761	NONHSAT035120

Variant related genes	Relation type
IRS2	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11841502	0.87[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap]
rs12853546	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12864020	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12874640	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12876234	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs1414317	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974134	0.81[ASN][1000 genomes]
rs34911155	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4372569	0.81[ASN][1000 genomes]
rs4771645	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs4771646	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs4771647	0.87[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap]
rs4773088	0.83[JPT][hapmap]
rs4773091	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs4773093	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55824992	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9555635	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559648	0.83[JPT][hapmap]
rs9559654	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9559656	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9559657	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559658	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9559659	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559660	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826788	chr13:110381750-110469062	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv826789	chr13:110387268-110473524	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv826790	chr13:110395165-110463032	Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv826791	chr13:110397733-110462553	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv826792	chr13:110398678-110462209	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1047427	chr13:110412864-110446417	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv826793	chr13:110423187-110448628	Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv826794	chr13:110424916-110448628	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
9	nsv826795	chr13:110425465-110448628	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
10	nsv826796	chr13:110430886-110442431	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription 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	27 gene(s)	inside rSNPs	n/a
11	esv1834749	chr13:110431891-110441483	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	n/a
12	esv1795605	chr13:110435953-110441483	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	n/a
13	esv1841056	chr13:110435953-110441483	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	n/a
14	esv1795443	chr13:110435953-110453607	Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110439600-110442000	Enhancers	Fetal Brain Male	brain
2	chr13:110440000-110443200	Enhancers	Dnd41	blood
3	chr13:110440200-110441800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr13:110440200-110443400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr13:110440200-110443400	Weak transcription	Pancreas	Pancrea
6	chr13:110440200-110443600	Enhancers	Liver	Liver
7	chr13:110440200-110443600	Weak transcription	Esophagus	oesophagus
8	chr13:110440400-110441600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr13:110440400-110441600	Enhancers	Brain Anterior Caudate	brain
10	chr13:110440400-110441600	Enhancers	Brain Hippocampus Middle	brain
11	chr13:110440400-110441800	Enhancers	Adipose Nuclei	Adipose
12	chr13:110440400-110442400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:110440400-110442600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:110440400-110442600	Weak transcription	NHDF-Ad	bronchial
15	chr13:110440400-110443200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr13:110440400-110443200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:110440400-110443200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr13:110440400-110443400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:110440400-110443400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr13:110440400-110443400	Weak transcription	Primary T cells from cord blood	blood
21	chr13:110440400-110443400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr13:110440400-110443400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr13:110440400-110443400	Weak transcription	Brain Substantia Nigra	brain
24	chr13:110440400-110443400	Weak transcription	Left Ventricle	heart
25	chr13:110440400-110443400	Weak transcription	Psoas Muscle	Psoas
26	chr13:110440400-110443400	Weak transcription	Right Atrium	heart
27	chr13:110440400-110443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr13:110440400-110443800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:110440400-110443800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr13:110440400-110445000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:110440400-110446200	Weak transcription	NHEK	skin
32	chr13:110440400-110446600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:110440400-110447200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr13:110440600-110441600	Enhancers	Colon Smooth Muscle	Colon
35	chr13:110440600-110441800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:110440600-110442800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr13:110440800-110441600	Bivalent Enhancer	Primary B cells from cord blood	blood
38	chr13:110440800-110441600	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr13:110440800-110441800	Enhancers	Fetal Heart	heart
40	chr13:110440800-110443400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr13:110441000-110441600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr13:110441000-110441800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr13:110441000-110441800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr13:110441000-110441800	Enhancers	Brain Angular Gyrus	brain
45	chr13:110441000-110442000	Enhancers	Fetal Brain Female	brain
46	chr13:110441200-110441600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:110441200-110441600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr13:110441200-110441600	Enhancers	A549	lung
49	chr13:110441200-110441600	Flanking Active TSS	HSMM	muscle
50	chr13:110441200-110441600	Weak transcription	K562	blood

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