Variant report

Variant	rs73842253
Chromosome Location	chr4:119721856-119721857
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10001115	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10018977	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10019311	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10025640	0.86[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	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17258907	0.83[EUR][1000 genomes]
rs17259173	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17259257	0.83[EUR][1000 genomes]
rs17259284	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324807	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324821	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324884	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17324968	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17325017	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17325129	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17325192	0.86[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	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28837152	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41455648	0.93[EUR][1000 genomes]
rs55633605	1.00[EUR][1000 genomes]
rs55640619	1.00[EUR][1000 genomes]
rs55649377	1.00[EUR][1000 genomes]
rs55668908	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55671478	1.00[EUR][1000 genomes]
rs55704595	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55726697	1.00[EUR][1000 genomes]
rs55744948	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55758547	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55794497	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55806110	1.00[EUR][1000 genomes]
rs55823625	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55869953	1.00[EUR][1000 genomes]
rs55901549	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55913633	1.00[EUR][1000 genomes]
rs55985953	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56027489	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56042726	0.93[EUR][1000 genomes]
rs56046449	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56046676	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56055826	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56104443	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56117870	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56124677	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56150431	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56162974	1.00[EUR][1000 genomes]
rs56212415	1.00[EUR][1000 genomes]
rs56227053	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56252481	1.00[EUR][1000 genomes]
rs56264833	0.95[EUR][1000 genomes]
rs56283736	1.00[EUR][1000 genomes]
rs56291421	1.00[EUR][1000 genomes]
rs56302493	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56302600	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56303276	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56309519	1.00[EUR][1000 genomes]
rs56322132	1.00[EUR][1000 genomes]
rs56331118	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56342843	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56359736	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56364904	1.00[EUR][1000 genomes]
rs56388366	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56389935	0.88[EUR][1000 genomes]
rs56762141	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6818519	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119688600-119732600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:119703400-119732200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr4:119703800-119738200	Strong transcription	Placenta	Placenta
4	chr4:119704200-119740000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:119704800-119735200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:119705200-119748200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:119707800-119730800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:119708000-119732800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr4:119708400-119723000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:119708800-119722200	Strong transcription	Liver	Liver
11	chr4:119712400-119723400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:119712400-119739000	Strong transcription	Fetal Muscle Leg	muscle
13	chr4:119713600-119724400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:119713800-119739600	Strong transcription	Fetal Muscle Trunk	muscle
15	chr4:119714000-119722800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:119714000-119724600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:119714000-119738200	Strong transcription	Duodenum Mucosa	Duodenum
18	chr4:119714000-119739000	Strong transcription	HSMM	muscle
19	chr4:119714000-119739200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:119714200-119722000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:119714200-119724800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:119714400-119740200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:119714600-119724400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:119714600-119729400	Strong transcription	HepG2	liver
25	chr4:119714600-119731000	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr4:119714600-119737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:119714800-119723200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr4:119715200-119733800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:119715800-119723200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:119715800-119734200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:119716200-119723200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr4:119716200-119723400	Weak transcription	Psoas Muscle	Psoas
33	chr4:119716200-119736000	Weak transcription	A549	lung
34	chr4:119716200-119738000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr4:119716400-119722200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:119716400-119722600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:119716400-119737200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:119716600-119722000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr4:119716600-119722800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:119716600-119723800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr4:119716600-119724000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr4:119716800-119731400	Strong transcription	NHLF	lung
43	chr4:119716800-119738600	Strong transcription	GM12878-XiMat	blood
44	chr4:119717400-119729400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr4:119717600-119722200	Strong transcription	Pancreas	Pancrea
46	chr4:119717600-119737600	Strong transcription	Fetal Intestine Large	intestine
47	chr4:119718200-119722200	Strong transcription	Lung	lung
48	chr4:119718200-119723600	Weak transcription	Esophagus	oesophagus
49	chr4:119718200-119735000	Weak transcription	Brain Anterior Caudate	brain
50	chr4:119718200-119739600	Weak transcription	Brain Germinal Matrix	brain

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