Variant report

Variant	rs55640619
Chromosome Location	chr4:119761999-119762000
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	chr4:119732984..119735511-chr4:119760384..119762746,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10001115	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10018977	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10019311	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10025640	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11098451	0.93[EUR][1000 genomes]
rs17257945	0.88[EUR][1000 genomes]
rs17258106	0.88[EUR][1000 genomes]
rs17258830	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17258907	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17259173	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17259257	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17259284	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324807	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324821	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324884	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324968	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17325017	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17325129	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17325192	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28595532	0.93[EUR][1000 genomes]
rs28600971	0.93[EUR][1000 genomes]
rs28627331	0.88[EUR][1000 genomes]
rs28797314	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28837152	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41455648	0.93[EUR][1000 genomes]
rs55633605	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55649377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55668908	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55671478	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55704595	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55726697	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55744948	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55758547	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55794497	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55806110	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55823625	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55869953	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55901549	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55913633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55985953	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56027489	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56042726	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56046449	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56046676	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56055826	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56104443	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56117870	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56124677	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56150431	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56162974	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56212415	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56227053	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56252481	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56264833	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56283736	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56291421	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56302493	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56302600	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56303276	1.00[EUR][1000 genomes]
rs56309519	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56322132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56331118	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56342843	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56359736	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56364904	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56388366	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56389935	0.88[EUR][1000 genomes]
rs56762141	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6818519	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73842253	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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv516777	chr4:119733366-119762951	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3376985	chr4:119757182-119774736	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr4:119758000-119762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:119758000-119764600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:119758000-119764600	Weak transcription	Psoas Muscle	Psoas
4	chr4:119758200-119762400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:119758200-119762800	Weak transcription	HSMM	muscle
6	chr4:119758200-119766800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:119758200-119771200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:119758400-119762200	Weak transcription	NH-A	brain
9	chr4:119758400-119762200	Weak transcription	Osteobl	bone
10	chr4:119758400-119762400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:119758400-119762400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:119758400-119762400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:119758400-119762600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:119758400-119762600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:119758400-119762600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:119758400-119762600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:119758400-119762600	Weak transcription	HUVEC	blood vessel
18	chr4:119758400-119762800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:119758400-119762800	Weak transcription	HMEC	breast
20	chr4:119758400-119762800	Weak transcription	NHDF-Ad	bronchial
21	chr4:119758400-119763000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:119758400-119763000	Weak transcription	NHLF	lung
23	chr4:119758600-119762200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:119758600-119762200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:119758600-119762600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:119758600-119762800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:119758600-119763400	Weak transcription	NHEK	skin
28	chr4:119758800-119762600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:119759800-119762200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:119761200-119763200	Weak transcription	HSMMtube	muscle

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