Variant report

Variant	rs7675916
Chromosome Location	chr4:31143818-31143819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10008926	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10034048	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10517222	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1463843	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1499475	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16867990	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16884384	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16884398	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16884402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28463037	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28522755	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28568738	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6448745	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6448746	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6827295	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6856098	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7693417	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][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	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1007884	chr4:31071934-31680623	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1007145	chr4:31079681-31670541	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv491749	chr4:31103307-31645668	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:31116800-31144000	Weak transcription	Aorta	Aorta
2	chr4:31135600-31144400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:31135800-31144200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:31135800-31147600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:31136800-31144000	Weak transcription	Left Ventricle	heart
6	chr4:31139800-31147600	Weak transcription	Right Ventricle	heart
7	chr4:31140200-31145800	Weak transcription	Fetal Stomach	stomach
8	chr4:31140800-31144000	Weak transcription	Fetal Heart	heart
9	chr4:31142000-31149600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:31142400-31144000	Weak transcription	Fetal Lung	lung
11	chr4:31142600-31144400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:31142600-31144800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:31142600-31147000	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:31142600-31147600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:31142600-31147600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:31142600-31150000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:31143000-31147000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:31143000-31150400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:31143000-31151800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:31143200-31145400	Weak transcription	Fetal Brain Female	brain
21	chr4:31143400-31147000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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