Variant report

Variant	rs9591256
Chromosome Location	chr13:49947052-49947053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11618853	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11618854	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12716689	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12716690	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13378622	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13378689	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13378690	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13378702	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13378954	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2146395	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2146396	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2181327	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4941638	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4942820	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4942821	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4942822	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4942823	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4942826	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4942827	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6561522	0.88[EUR][1000 genomes]
rs67549843	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7139498	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7139781	0.85[ASN][1000 genomes]
rs730924	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7317025	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7317630	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7318456	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7318882	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7319116	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7321193	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7332728	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7334803	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7335750	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7335760	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7335926	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7335977	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7336096	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7336829	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7338684	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7989461	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7991646	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7998955	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8002153	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8002829	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8002858	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9526551	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9526552	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9535215	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9535216	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9535219	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9535220	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9535221	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9535222	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9596090	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv430558	chr13:49914393-50059354	Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv430559	chr13:49930369-50059354	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv430560	chr13:49930643-50059354	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv430562	chr13:49930643-50067246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv430561	chr13:49930643-50089844	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv430564	chr13:49945247-50059354	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv430566	chr13:49945247-50089844	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49889000-49947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr13:49912600-49948800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:49922400-49947800	Weak transcription	Right Ventricle	heart
4	chr13:49922800-49951400	Weak transcription	Gastric	stomach
5	chr13:49923200-49951200	Weak transcription	Pancreas	Pancrea
6	chr13:49929400-49950000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:49934200-49957400	Weak transcription	Left Ventricle	heart
8	chr13:49938600-49961000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:49942600-49947600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:49942600-49947800	Weak transcription	NHDF-Ad	bronchial
11	chr13:49942800-49947800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:49942800-49948000	Weak transcription	NHLF	lung
13	chr13:49942800-49952800	Weak transcription	Aorta	Aorta
14	chr13:49943000-49947800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:49943000-49947800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr13:49943000-49947800	Weak transcription	Ovary	ovary
17	chr13:49943000-49948000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr13:49944400-49951400	Enhancers	Fetal Heart	heart
19	chr13:49945000-49947400	Weak transcription	Brain Angular Gyrus	brain
20	chr13:49945000-49947600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:49945000-49948000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr13:49945000-49948800	Weak transcription	Brain Anterior Caudate	brain
23	chr13:49945000-49952000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:49945200-49948800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:49945200-49949000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr13:49945200-49950200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr13:49945200-49973000	Weak transcription	Brain Substantia Nigra	brain
28	chr13:49945400-49948000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr13:49945400-49948000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr13:49945400-49949000	Enhancers	HepG2	liver
31	chr13:49945600-49947600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr13:49945600-49947800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr13:49945600-49947800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr13:49945800-49947200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr13:49946000-49947600	Enhancers	NH-A	brain
36	chr13:49946000-49948000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr13:49946000-49948000	Enhancers	Adipose Nuclei	Adipose
38	chr13:49946000-49949400	Enhancers	Hela-S3	cervix
39	chr13:49946200-49950400	Enhancers	Osteobl	bone
40	chr13:49946400-49947800	Weak transcription	Stomach Mucosa	stomach
41	chr13:49946400-49949000	Enhancers	Fetal Kidney	kidney
42	chr13:49946600-49947600	Weak transcription	Colon Smooth Muscle	Colon
43	chr13:49946600-49947800	Enhancers	Primary T cells from cord blood	blood
44	chr13:49946600-49949600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr13:49946800-49947600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr13:49946800-49947800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr13:49946800-49947800	Weak transcription	Placenta	Placenta
48	chr13:49946800-49948000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr13:49946800-49948000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr13:49946800-49948600	Weak transcription	Primary B cells from cord blood	blood

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