Variant report

Variant	rs11954102
Chromosome Location	chr5:42586828-42586829
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	chr5:42577335..42580605-chr5:42585374..42588343,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10941581	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162596	0.89[EUR][1000 genomes]
rs35227546	1.00[ASN][1000 genomes]
rs35703418	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4283797	1.00[ASN][1000 genomes]
rs4330467	1.00[ASN][1000 genomes]
rs59463904	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870809	1.00[ASN][1000 genomes]
rs6887528	1.00[ASN][1000 genomes]
rs72754922	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754935	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754947	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754950	1.00[ASN][1000 genomes]
rs73087462	1.00[ASN][1000 genomes]
rs7700564	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42572200-42587800	Weak transcription	Left Ventricle	heart
2	chr5:42583000-42587400	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr5:42583000-42588200	Enhancers	Liver	Liver
4	chr5:42583000-42590800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:42583200-42587200	Enhancers	Fetal Heart	heart
6	chr5:42583200-42588400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:42583200-42591000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:42583200-42591200	Weak transcription	Lung	lung
9	chr5:42583200-42591200	Weak transcription	Spleen	Spleen
10	chr5:42583400-42590000	Weak transcription	Right Ventricle	heart
11	chr5:42583800-42591200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr5:42585600-42588200	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr5:42586200-42587200	Enhancers	Stomach Smooth Muscle	stomach
14	chr5:42586200-42588200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:42586200-42588200	Enhancers	Fetal Stomach	stomach
16	chr5:42586400-42587600	Enhancers	Rectal Smooth Muscle	rectum
17	chr5:42586400-42588200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:42586400-42588200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:42586400-42588200	Enhancers	Colon Smooth Muscle	Colon
20	chr5:42586400-42588400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:42586400-42588600	Flanking Active TSS	K562	blood
22	chr5:42586600-42587000	Enhancers	Psoas Muscle	Psoas
23	chr5:42586600-42587200	Enhancers	Ovary	ovary
24	chr5:42586600-42587400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:42586600-42587600	Enhancers	HSMMtube	muscle
26	chr5:42586600-42588200	Enhancers	Fetal Lung	lung
27	chr5:42586600-42588400	Enhancers	Fetal Muscle Leg	muscle
28	chr5:42586800-42587000	Enhancers	Primary hematopoietic stem cells	blood
29	chr5:42586800-42587000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr5:42586800-42587000	Enhancers	Gastric	stomach
31	chr5:42586800-42587000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr5:42586800-42587000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr5:42586800-42587200	Enhancers	Pancreas	Pancrea
34	chr5:42586800-42587200	Enhancers	Right Atrium	heart
35	chr5:42586800-42588000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:42586800-42588400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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