Variant report

Variant	rs71636248
Chromosome Location	chr5:80185094-80185095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs11950254	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11956599	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12515222	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12515548	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12518711	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12521191	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12521371	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12521389	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12521539	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12522132	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12522474	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12522866	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13165877	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13168327	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13178429	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13178892	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13186354	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1679115	0.84[ASN][1000 genomes]
rs168653	0.86[ASN][1000 genomes]
rs2112415	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306371	0.84[ASN][1000 genomes]
rs245340	0.92[ASN][1000 genomes]
rs245341	0.91[ASN][1000 genomes]
rs245348	0.86[ASN][1000 genomes]
rs245355	0.87[ASN][1000 genomes]
rs245356	0.87[ASN][1000 genomes]
rs245357	0.87[ASN][1000 genomes]
rs245360	0.87[ASN][1000 genomes]
rs245372	0.91[ASN][1000 genomes]
rs245373	0.84[ASN][1000 genomes]
rs245374	0.86[ASN][1000 genomes]
rs245379	0.84[ASN][1000 genomes]
rs245380	0.85[ASN][1000 genomes]
rs245385	0.86[ASN][1000 genomes]
rs245386	0.84[ASN][1000 genomes]
rs26278	0.84[ASN][1000 genomes]
rs26279	0.94[ASN][1000 genomes]
rs27366	0.85[ASN][1000 genomes]
rs27494	0.94[ASN][1000 genomes]
rs27887	0.94[ASN][1000 genomes]
rs2897298	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs32963	0.94[ASN][1000 genomes]
rs32964	0.94[ASN][1000 genomes]
rs32967	0.94[ASN][1000 genomes]
rs32968	0.94[ASN][1000 genomes]
rs32969	0.84[ASN][1000 genomes]
rs32988	0.84[ASN][1000 genomes]
rs32989	0.84[ASN][1000 genomes]
rs32999	0.81[ASN][1000 genomes]
rs34205517	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34274010	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34560430	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34799825	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34816304	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34829384	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34976588	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35109637	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35688814	0.82[ASN][1000 genomes]
rs35856198	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35889396	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35967780	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36160284	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3776976	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3776977	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3776978	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3797898	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs39626	0.85[ASN][1000 genomes]
rs40591	0.81[ASN][1000 genomes]
rs4293894	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55661202	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58825743	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59360125	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59568430	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6151888	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6151896	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6151904	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6151907	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6151919	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6151923	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66821541	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67240890	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6863363	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6874051	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6874652	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6877065	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6891635	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs701388	0.80[ASN][1000 genomes]
rs72767323	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72767330	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7705816	0.93[ASN][1000 genomes]
rs7708096	0.80[ASN][1000 genomes]
rs7717404	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7721813	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7737445	0.90[ASN][1000 genomes]
rs888867	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9293824	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv882231	chr5:79984714-80187929	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1016100	chr5:80023679-80254194	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv1799323	chr5:80179312-80219650	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80163200-80186600	Weak transcription	HSMMtube	muscle
2	chr5:80163200-80188400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:80167800-80187200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:80169600-80190600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:80171200-80186400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:80171400-80196400	Weak transcription	Hela-S3	cervix
7	chr5:80171800-80186800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:80172200-80186400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:80173600-80208000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:80173800-80186200	Weak transcription	Fetal Brain Female	brain
11	chr5:80173800-80188600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr5:80174000-80185600	Weak transcription	Lung	lung
13	chr5:80174000-80186400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:80174000-80186400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:80174000-80186600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:80174000-80186600	Weak transcription	Fetal Lung	lung
17	chr5:80174000-80186800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:80174000-80187200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr5:80174000-80187200	Weak transcription	Right Ventricle	heart
20	chr5:80174000-80188200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:80174000-80188400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:80174000-80188400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:80174000-80188600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:80174000-80188600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:80174000-80190200	Weak transcription	Brain Anterior Caudate	brain
26	chr5:80174000-80190800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:80174000-80191200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:80174000-80191400	Weak transcription	Spleen	Spleen
29	chr5:80174000-80197000	Weak transcription	Left Ventricle	heart
30	chr5:80174200-80185200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr5:80174200-80187200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr5:80174200-80187400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr5:80174200-80187800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:80174200-80188000	Weak transcription	Brain Angular Gyrus	brain
35	chr5:80174200-80192000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:80174400-80185800	Weak transcription	Primary B cells from cord blood	blood
37	chr5:80175400-80185800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:80177400-80185200	Weak transcription	Primary T cells from cord blood	blood
39	chr5:80177400-80186200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:80177800-80186400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:80178000-80185800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr5:80178000-80186600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:80178400-80186400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:80179000-80185200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:80180400-80191200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:80180400-80215000	Weak transcription	Fetal Kidney	kidney
47	chr5:80180600-80187000	Weak transcription	Pancreas	Pancrea
48	chr5:80181200-80186800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:80181600-80185600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:80181600-80186400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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