Variant report

Variant	rs73147399
Chromosome Location	chr4:54129890-54129891
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11932451	1.00[EUR][1000 genomes]
rs11934255	1.00[EUR][1000 genomes]
rs17082361	1.00[EUR][1000 genomes]
rs17082514	1.00[EUR][1000 genomes]
rs17082527	1.00[EUR][1000 genomes]
rs17082568	1.00[EUR][1000 genomes]
rs17082586	1.00[EUR][1000 genomes]
rs28824263	1.00[EUR][1000 genomes]
rs56720104	1.00[EUR][1000 genomes]
rs56919722	1.00[EUR][1000 genomes]
rs57159957	1.00[EUR][1000 genomes]
rs57480314	1.00[EUR][1000 genomes]
rs59315527	1.00[EUR][1000 genomes]
rs59382030	1.00[EUR][1000 genomes]
rs59688893	1.00[EUR][1000 genomes]
rs60129843	1.00[EUR][1000 genomes]
rs60298480	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60960188	1.00[EUR][1000 genomes]
rs61451961	1.00[EUR][1000 genomes]
rs73141465	1.00[EUR][1000 genomes]
rs73141473	1.00[EUR][1000 genomes]
rs73141488	1.00[EUR][1000 genomes]
rs73141489	1.00[EUR][1000 genomes]
rs73141493	1.00[EUR][1000 genomes]
rs73141502	1.00[EUR][1000 genomes]
rs73143406	1.00[EUR][1000 genomes]
rs73143409	1.00[EUR][1000 genomes]
rs73143437	1.00[EUR][1000 genomes]
rs73143440	1.00[EUR][1000 genomes]
rs73143445	1.00[EUR][1000 genomes]
rs73143454	1.00[EUR][1000 genomes]
rs73143469	1.00[EUR][1000 genomes]
rs73143473	1.00[EUR][1000 genomes]
rs73143478	1.00[EUR][1000 genomes]
rs73143501	1.00[EUR][1000 genomes]
rs73145365	1.00[EUR][1000 genomes]
rs73145375	1.00[EUR][1000 genomes]
rs73147304	1.00[EUR][1000 genomes]
rs73147395	1.00[EUR][1000 genomes]
rs73147402	1.00[EUR][1000 genomes]
rs73149226	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73149233	1.00[EUR][1000 genomes]
rs73149238	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73149250	1.00[EUR][1000 genomes]
rs73149260	1.00[EUR][1000 genomes]
rs73149274	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73151252	1.00[EUR][1000 genomes]
rs7660092	1.00[EUR][1000 genomes]
rs7661029	1.00[EUR][1000 genomes]
rs7676883	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997614	chr4:54086727-54150632	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv879013	chr4:54093717-54137228	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1008593	chr4:54120297-54207769	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv2763360	chr4:54123894-54153814	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54114400-54134400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:54114400-54139600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:54114400-54144000	Weak transcription	Liver	Liver
4	chr4:54114800-54130000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:54117800-54132800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:54119600-54130400	Weak transcription	NHLF	lung
7	chr4:54122200-54139800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:54126600-54134200	Weak transcription	Gastric	stomach
9	chr4:54126800-54141400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:54127200-54130200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:54127600-54153000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:54128000-54134400	Weak transcription	Pancreas	Pancrea
13	chr4:54128200-54136200	Weak transcription	Thymus	Thymus
14	chr4:54128600-54132800	Weak transcription	Adipose Nuclei	Adipose
15	chr4:54129400-54130000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:54129400-54130800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:54129400-54130800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:54129600-54130400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:54129600-54130400	Strong transcription	HSMMtube	muscle
20	chr4:54129600-54130600	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr4:54129600-54130800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:54129600-54141400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:54129600-54154600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:54129800-54130200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
25	chr4:54129800-54130400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:54129800-54130600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:54129800-54130600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:54129800-54130600	ZNF genes & repeats	Fetal Stomach	stomach
29	chr4:54129800-54130800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr4:54129800-54145200	Weak transcription	Fetal Lung	lung

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