Variant report

Variant	rs967048
Chromosome Location	chr4:96028612-96028613
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:96026041..96029034-chr4:96031060..96033692,2	K562	blood:
2	chr4:96020247..96022763-chr4:96027128..96028704,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1036352	0.83[EUR][1000 genomes]
rs1158368	0.87[CEU][hapmap]
rs1158793	0.86[CEU][hapmap]
rs6532530	0.86[CEU][hapmap]
rs6816834	0.86[CEU][hapmap]
rs723367	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs7661539	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv830011	chr4:95947560-96103934	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 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	chr4:96016000-96060600	Weak transcription	Thymus	Thymus
2	chr4:96016600-96054200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr4:96024000-96044600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:96024200-96060600	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:96025000-96054600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:96025400-96029600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:96025600-96042000	Strong transcription	Dnd41	blood
8	chr4:96026400-96057000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:96027000-96029000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:96027000-96030200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:96027200-96030200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:96027200-96030600	Enhancers	Fetal Intestine Small	intestine
13	chr4:96027200-96030600	Enhancers	Hela-S3	cervix
14	chr4:96027200-96030600	Enhancers	NH-A	brain
15	chr4:96027200-96030600	Enhancers	Osteobl	bone
16	chr4:96027400-96029400	Enhancers	HSMM	muscle
17	chr4:96027400-96029800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:96027600-96029200	Enhancers	NHDF-Ad	bronchial
19	chr4:96027800-96028800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:96027800-96030000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr4:96027800-96030200	Enhancers	HUVEC	blood vessel
22	chr4:96027800-96030600	Enhancers	Fetal Intestine Large	intestine
23	chr4:96028000-96029000	Enhancers	HSMMtube	muscle
24	chr4:96028000-96029600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:96028000-96029800	Enhancers	HMEC	breast
26	chr4:96028200-96029600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:96028200-96051600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr4:96028400-96029400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:96028400-96029400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:96028400-96035200	Weak transcription	Fetal Thymus	thymus
31	chr4:96028600-96028800	Enhancers	A549	lung

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