Variant report

Variant	rs2390608
Chromosome Location	chr4:124858477-124858478
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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10034152	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1022373	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11098725	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11098727	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11732946	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12642448	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12648267	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13112742	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13127429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13130396	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1519236	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1519242	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2390609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2390616	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34040769	0.93[ASN][1000 genomes]
rs34845433	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35633695	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4833959	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55922840	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56145570	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57389113	0.81[EUR][1000 genomes]
rs62321850	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67119331	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813913	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6819474	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7691280	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124845200-124859000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:124856000-124867600	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:124856800-124862800	Enhancers	HUVEC	blood vessel
4	chr4:124857000-124858600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:124857000-124864000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:124857200-124861000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:124857400-124858800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:124857400-124859400	Enhancers	Fetal Lung	lung
9	chr4:124857800-124858600	Enhancers	Fetal Intestine Large	intestine
10	chr4:124857800-124858600	Enhancers	Stomach Mucosa	stomach
11	chr4:124857800-124859000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr4:124857800-124859000	Enhancers	Fetal Heart	heart
13	chr4:124857800-124859000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr4:124857800-124859200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr4:124857800-124859200	Enhancers	Fetal Intestine Small	intestine
16	chr4:124857800-124859400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr4:124857800-124859400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:124857800-124860200	Enhancers	Fetal Stomach	stomach
19	chr4:124858000-124859000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:124858000-124859400	Enhancers	Rectal Smooth Muscle	rectum
21	chr4:124858200-124859000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:124858200-124859000	Enhancers	Fetal Kidney	kidney
23	chr4:124858200-124860000	Enhancers	Colon Smooth Muscle	Colon
24	chr4:124858200-124862400	Weak transcription	HSMMtube	muscle
25	chr4:124858400-124858800	Weak transcription	HSMM	muscle

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