Variant report

Variant	rs73852869
Chromosome Location	chr4:147400342-147400343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147398717..147401702-chr8:43092401..43094429,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs28397039	1.00[EUR][1000 genomes]
rs55979124	1.00[EUR][1000 genomes]
rs56925901	1.00[EUR][1000 genomes]
rs6825623	1.00[EUR][1000 genomes]
rs6830203	1.00[EUR][1000 genomes]
rs6843989	1.00[EUR][1000 genomes]
rs6857438	1.00[EUR][1000 genomes]
rs73852842	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73852843	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73852850	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73852857	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73852883	1.00[EUR][1000 genomes]
rs73852895	1.00[EUR][1000 genomes]
rs73852898	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv428453	chr4:147335953-147457115	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147364800-147402200	Weak transcription	Thymus	Thymus
2	chr4:147372000-147402400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:147380000-147402600	Weak transcription	Primary T cells from cord blood	blood
4	chr4:147380200-147403800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr4:147382600-147402000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:147382600-147402400	Weak transcription	Gastric	stomach
7	chr4:147387000-147403200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:147387200-147403200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:147387800-147402400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:147388400-147402200	Weak transcription	Lung	lung
11	chr4:147388600-147402200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr4:147388800-147402600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:147389000-147402200	Weak transcription	Aorta	Aorta
14	chr4:147389000-147403000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:147389000-147404200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:147389200-147416200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:147389200-147416400	Weak transcription	NHEK	skin
18	chr4:147389400-147402600	Weak transcription	Adipose Nuclei	Adipose
19	chr4:147389400-147403600	Weak transcription	Primary B cells from cord blood	blood
20	chr4:147389400-147407800	Weak transcription	Small Intestine	intestine
21	chr4:147393800-147402200	Weak transcription	Ovary	ovary
22	chr4:147394000-147402400	Weak transcription	Pancreas	Pancrea
23	chr4:147394000-147405200	Weak transcription	Esophagus	oesophagus
24	chr4:147394400-147402600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:147396800-147401600	Weak transcription	Spleen	Spleen
26	chr4:147398800-147404600	Weak transcription	NH-A	brain
27	chr4:147399400-147405200	Weak transcription	Left Ventricle	heart
28	chr4:147399800-147416400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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