Variant report

Variant	rs11742368
Chromosome Location	chr5:95563875-95563876
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95562010..95564635-chr5:95566152..95567653,2	K562	blood:
2	chr5:95559323..95562073-chr5:95563803..95565354,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10066966	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10073073	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10463169	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10476669	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10866766	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11135447	0.95[ASN][1000 genomes]
rs11135448	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11135449	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11135451	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11742915	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11749674	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12519062	0.97[ASN][1000 genomes]
rs12523580	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12652939	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12652970	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12653663	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12659174	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13173638	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13183250	0.97[ASN][1000 genomes]
rs13190432	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13358858	0.97[ASN][1000 genomes]
rs1423673	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1498928	0.80[CHB][hapmap]
rs1695218	0.86[EUR][1000 genomes]
rs271917	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[EUR][1000 genomes]
rs271918	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs271940	0.86[EUR][1000 genomes]
rs2910933	0.88[EUR][1000 genomes]
rs2936431	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3922469	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4077817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4267884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4301244	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4492136	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4559022	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4569897	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4626359	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4869281	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56699153	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59090200	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59238624	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61618257	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6556909	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6862359	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6877002	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6877070	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6877397	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6878441	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6879773	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6880865	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6883290	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6895145	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6895197	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6895503	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6895664	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73138312	0.97[ASN][1000 genomes]
rs73138313	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73138318	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73138324	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73138336	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73138348	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73138350	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73138358	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73138366	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73138380	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7447567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7700756	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7701835	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7706272	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7707839	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7714065	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7725014	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7731306	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7733849	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7734553	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7735346	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7735670	0.82[EUR][1000 genomes];0.96[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	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv882390	chr5:95486940-95591580	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv518730	chr5:95547545-95569569	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95561800-95564000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:95561800-95564000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:95561800-95564200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:95561800-95564200	Enhancers	NHLF	lung
5	chr5:95561800-95565200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:95562400-95564200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:95562600-95564000	Enhancers	Dnd41	blood
8	chr5:95562600-95566000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:95562600-95566200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:95562800-95564400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:95562800-95564800	Enhancers	NH-A	brain
12	chr5:95562800-95565200	Enhancers	NHDF-Ad	bronchial
13	chr5:95562800-95565400	Enhancers	HMEC	breast
14	chr5:95562800-95565600	Weak transcription	HepG2	liver
15	chr5:95563000-95564000	Enhancers	Fetal Lung	lung
16	chr5:95563000-95564800	Weak transcription	Brain Angular Gyrus	brain
17	chr5:95563000-95565200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:95563000-95565200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:95563000-95565200	Enhancers	Osteobl	bone
20	chr5:95563200-95564400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:95563200-95564800	Weak transcription	Brain Anterior Caudate	brain
22	chr5:95563400-95564200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:95563400-95564800	Weak transcription	Brain Substantia Nigra	brain
24	chr5:95563400-95565400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:95563600-95564400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:95563800-95564000	Enhancers	Brain Hippocampus Middle	brain
27	chr5:95563800-95564200	Flanking Active TSS	NHEK	skin
28	chr5:95563800-95564400	Genic enhancers	HSMM	muscle
29	chr5:95563800-95564400	Enhancers	HSMMtube	muscle
30	chr5:95563800-95564800	Weak transcription	Fetal Heart	heart
31	chr5:95563800-95565000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:95563800-95565200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr5:95563800-95565800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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