Variant report

Variant	rs149449
Chromosome Location	chr5:95902093-95902094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95901536..95903744-chr5:95906929..95910055,4	K562	blood:
2	chr5:95899443..95902123-chr5:95903366..95905587,2	K562	blood:
3	chr5:95900753..95902710-chr5:95911311..95913680,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10054767	0.82[ASN][1000 genomes]
rs1459839	0.86[ASN][1000 genomes]
rs17086305	0.92[ASN][1000 genomes]
rs187819	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2570462	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2570464	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2578697	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2611727	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs261229	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs261230	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs261233	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs263378	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs263380	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs263381	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3853202	0.94[ASN][1000 genomes]
rs66522472	0.99[ASN][1000 genomes]
rs6868440	0.94[ASN][1000 genomes]
rs6881449	0.90[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	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95897800-95902600	Enhancers	HUVEC	blood vessel
2	chr5:95898200-95903200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:95899600-95902600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:95900200-95903400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:95901000-95903400	Enhancers	Osteobl	bone
6	chr5:95901000-95903600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:95901200-95902200	Enhancers	NHDF-Ad	bronchial
8	chr5:95901200-95902400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr5:95901200-95902600	Enhancers	NHLF	lung
10	chr5:95901200-95902800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:95901200-95903400	Enhancers	HSMMtube	muscle
12	chr5:95901200-95903600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:95901200-95903600	Enhancers	HSMM	muscle
14	chr5:95901200-95904000	Enhancers	NH-A	brain
15	chr5:95901400-95902200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:95901400-95902200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:95901400-95902400	Enhancers	A549	lung
18	chr5:95901400-95903000	Enhancers	Brain Hippocampus Middle	brain
19	chr5:95901400-95903200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:95901400-95903200	Enhancers	Brain Anterior Caudate	brain
21	chr5:95901400-95903400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:95901400-95903400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr5:95901400-95903400	Enhancers	HMEC	breast
24	chr5:95901600-95902200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:95901600-95902400	Enhancers	NHEK	skin
26	chr5:95901600-95902600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:95901600-95902600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:95901600-95903800	Enhancers	Hela-S3	cervix
29	chr5:95901800-95902400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:95901800-95902600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:95901800-95902600	Enhancers	Dnd41	blood
32	chr5:95901800-95902800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr5:95901800-95903000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:95901800-95903000	Enhancers	Brain Cingulate Gyrus	brain
35	chr5:95901800-95903400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:95901800-95903800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:95901800-95903800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:95902000-95903200	Flanking Active TSS	GM12878-XiMat	blood
39	chr5:95902000-95908400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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