Variant report

Variant	rs11748144
Chromosome Location	chr5:95903275-95903276
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95901536..95903744-chr5:95906929..95910055,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11740765	0.83[EUR][1000 genomes]
rs11744742	1.00[EUR][1000 genomes]
rs11749612	1.00[EUR][1000 genomes]
rs72772004	0.94[EUR][1000 genomes]
rs72772009	0.94[EUR][1000 genomes]
rs72772010	0.94[EUR][1000 genomes]
rs72772014	0.94[EUR][1000 genomes]
rs72772015	0.94[EUR][1000 genomes]
rs72772019	0.94[EUR][1000 genomes]
rs72772022	0.80[EUR][1000 genomes]
rs72772023	0.80[EUR][1000 genomes]
rs72772028	0.80[EUR][1000 genomes]
rs72772031	0.80[EUR][1000 genomes]
rs72772034	0.80[EUR][1000 genomes]
rs72772036	0.80[EUR][1000 genomes]
rs72772037	0.80[EUR][1000 genomes]
rs7707773	0.94[EUR][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	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1026484	chr5:95759910-95961518	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95900200-95903400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:95901000-95903400	Enhancers	Osteobl	bone
3	chr5:95901000-95903600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:95901200-95903400	Enhancers	HSMMtube	muscle
5	chr5:95901200-95903600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:95901200-95903600	Enhancers	HSMM	muscle
7	chr5:95901200-95904000	Enhancers	NH-A	brain
8	chr5:95901400-95903400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:95901400-95903400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr5:95901400-95903400	Enhancers	HMEC	breast
11	chr5:95901600-95903800	Enhancers	Hela-S3	cervix
12	chr5:95901800-95903400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:95901800-95903800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:95901800-95903800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:95902000-95908400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:95902200-95903800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:95902400-95905400	Weak transcription	A549	lung
18	chr5:95902600-95903600	Flanking Active TSS	HUVEC	blood vessel
19	chr5:95902800-95903400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:95903000-95903400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr5:95903000-95903400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:95903000-95903400	Enhancers	NHDF-Ad	bronchial
23	chr5:95903000-95903400	Enhancers	NHEK	skin
24	chr5:95903000-95903800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:95903200-95903400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:95903200-95903400	Bivalent Enhancer	Dnd41	blood
27	chr5:95903200-95904600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:95903200-95906200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:95903200-95907400	Weak transcription	NHLF	lung
30	chr5:95903200-95908200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:95903200-95908400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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