Variant report

Variant	rs1022373
Chromosome Location	chr4:124859063-124859064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10010854	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10034152	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11098725	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11098727	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11732946	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12642448	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12648267	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13112742	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13127429	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13130396	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1519236	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1519242	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2390608	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2390609	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2390616	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34040769	0.87[ASN][1000 genomes]
rs34845433	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35633695	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4833959	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55922840	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56145570	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57389113	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62321850	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67119331	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6813913	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6819474	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7691280	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv830049	chr4:124793932-124955708	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv879875	chr4:124821888-124904592	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv879876	chr4:124847477-124908231	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv879877	chr4:124847477-124935698	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv879878	chr4:124850901-124935698	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124856000-124867600	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:124856800-124862800	Enhancers	HUVEC	blood vessel
3	chr4:124857000-124864000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:124857200-124861000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:124857400-124859400	Enhancers	Fetal Lung	lung
6	chr4:124857800-124859200	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr4:124857800-124859200	Enhancers	Fetal Intestine Small	intestine
8	chr4:124857800-124859400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:124857800-124859400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:124857800-124860200	Enhancers	Fetal Stomach	stomach
11	chr4:124858000-124859400	Enhancers	Rectal Smooth Muscle	rectum
12	chr4:124858200-124860000	Enhancers	Colon Smooth Muscle	Colon
13	chr4:124858200-124862400	Weak transcription	HSMMtube	muscle
14	chr4:124858600-124863000	Weak transcription	Stomach Mucosa	stomach
15	chr4:124858800-124859200	Active TSS	Ovary	ovary
16	chr4:124858800-124859200	Active TSS	Right Atrium	heart
17	chr4:124858800-124862200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:124859000-124859200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:124859000-124859200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:124859000-124859200	Enhancers	Fetal Muscle Trunk	muscle
21	chr4:124859000-124860000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:124859000-124860800	Weak transcription	HSMM	muscle
23	chr4:124859000-124863000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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