Variant report

Variant	rs1588522
Chromosome Location	chr4:121766474-121766475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10003374	0.96[EUR][1000 genomes]
rs10026006	0.96[EUR][1000 genomes]
rs11933936	1.00[EUR][1000 genomes]
rs11941156	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1511310	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs17050462	0.84[ASW][hapmap]
rs17051242	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17051245	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17051247	1.00[ASW][hapmap];0.87[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs17051253	0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs17051255	0.83[AMR][1000 genomes]
rs17051265	0.82[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2008466	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28362092	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28765516	0.89[AMR][1000 genomes]
rs28846396	1.00[EUR][1000 genomes]
rs56998648	0.81[AMR][1000 genomes]
rs58779616	0.91[EUR][1000 genomes]
rs59281550	0.91[EUR][1000 genomes]
rs60371752	1.00[EUR][1000 genomes]
rs6818794	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6826221	0.96[EUR][1000 genomes]
rs6826227	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73845482	0.87[EUR][1000 genomes]
rs73845483	0.83[EUR][1000 genomes]
rs73845486	0.91[EUR][1000 genomes]
rs9992625	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9996180	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9998810	0.83[AMR][1000 genomes];1.00[EUR][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	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
3	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121729600-121770400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:121750400-121768400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr4:121755800-121774600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr4:121756800-121779800	Weak transcription	Aorta	Aorta
5	chr4:121758200-121770400	Weak transcription	HSMM	muscle
6	chr4:121758200-121774600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:121759600-121775400	Weak transcription	Gastric	stomach
8	chr4:121760400-121775800	Weak transcription	Lung	lung
9	chr4:121761200-121778200	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:121761200-121783600	Weak transcription	Pancreas	Pancrea
11	chr4:121761400-121774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:121761400-121777600	Weak transcription	Left Ventricle	heart
13	chr4:121761600-121767400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:121763400-121778800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:121763600-121776600	Weak transcription	Fetal Stomach	stomach
16	chr4:121763800-121769800	Weak transcription	Osteobl	bone
17	chr4:121763800-121770400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:121763800-121771000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:121763800-121776600	Weak transcription	Fetal Heart	heart
20	chr4:121764000-121770000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:121764200-121767800	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:121764400-121769600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:121765600-121766600	Weak transcription	Fetal Lung	lung
24	chr4:121765800-121786600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:121766000-121776600	Weak transcription	Fetal Intestine Small	intestine
26	chr4:121766000-121786600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:121766200-121769600	Weak transcription	NHDF-Ad	bronchial
28	chr4:121766200-121790800	Weak transcription	Ovary	ovary
29	chr4:121766400-121769400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:121766400-121776600	Weak transcription	Fetal Intestine Large	intestine

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