Variant report

Variant	rs4864710
Chromosome Location	chr4:53886641-53886642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10008751	0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs1038356	1.00[ASW][hapmap];0.87[LWK][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13141154	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs1564678	1.00[AMR][1000 genomes]
rs1564679	1.00[AMR][1000 genomes]
rs2170690	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2368380	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2411288	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs2898682	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3910858	0.89[ASW][hapmap];1.00[MKK][hapmap]
rs4450989	0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4864447	0.89[ASW][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap]
rs6554066	0.89[ASW][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap]
rs6816741	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6826226	0.89[ASW][hapmap];0.81[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6834711	0.89[ASW][hapmap];0.89[MKK][hapmap]
rs7663460	1.00[AMR][1000 genomes]
rs7680196	0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv508280	chr4:53825060-53907661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53873400-53886800	Weak transcription	Left Ventricle	heart
2	chr4:53878400-53888000	Weak transcription	Right Atrium	heart
3	chr4:53879400-53887800	Weak transcription	Fetal Heart	heart
4	chr4:53879400-53888400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:53879400-53889600	Weak transcription	Aorta	Aorta
6	chr4:53879600-53887600	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:53879800-53888600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:53879800-53890000	Weak transcription	GM12878-XiMat	blood
9	chr4:53880400-53891800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:53880600-53888000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:53880800-53892800	Weak transcription	Primary T cells from cord blood	blood
12	chr4:53882600-53888200	Weak transcription	Fetal Stomach	stomach
13	chr4:53883200-53896400	Weak transcription	Primary B cells from cord blood	blood
14	chr4:53884400-53889600	Enhancers	Ovary	ovary
15	chr4:53884600-53887000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr4:53884800-53887000	Enhancers	Adipose Nuclei	Adipose
17	chr4:53885000-53887000	Enhancers	Hela-S3	cervix
18	chr4:53885000-53887200	Enhancers	Fetal Intestine Large	intestine
19	chr4:53885200-53887400	Enhancers	Osteobl	bone
20	chr4:53885200-53887800	Weak transcription	Fetal Kidney	kidney
21	chr4:53885600-53887000	Enhancers	Duodenum Mucosa	Duodenum
22	chr4:53885600-53887200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr4:53885600-53887200	Enhancers	Fetal Intestine Small	intestine
24	chr4:53885600-53887400	Enhancers	HSMMtube	muscle
25	chr4:53885600-53888800	Enhancers	NHDF-Ad	bronchial
26	chr4:53885800-53886800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:53885800-53886800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:53885800-53886800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr4:53885800-53886800	Enhancers	Stomach Mucosa	stomach
30	chr4:53885800-53887000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:53885800-53887000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:53885800-53887000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:53885800-53887000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr4:53885800-53887000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr4:53885800-53887000	Enhancers	Small Intestine	intestine
36	chr4:53885800-53887000	Enhancers	NH-A	brain
37	chr4:53885800-53887200	Enhancers	K562	blood
38	chr4:53886000-53887000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:53886000-53887000	Enhancers	Pancreas	Pancrea
40	chr4:53886000-53887000	Enhancers	HMEC	breast
41	chr4:53886000-53887200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr4:53886000-53887200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:53886000-53887200	Enhancers	HSMM	muscle
44	chr4:53886000-53888800	Enhancers	NHLF	lung
45	chr4:53886200-53886800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:53886200-53886800	Flanking Active TSS	HepG2	liver
47	chr4:53886200-53891200	Enhancers	Psoas Muscle	Psoas
48	chr4:53886200-53892400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:53886400-53886800	Flanking Active TSS	Liver	Liver
50	chr4:53886400-53889200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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