Variant report

Variant	rs1374657
Chromosome Location	chr4:30837143-30837144
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12331332	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1447373	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2310225	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28533358	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7685813	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4285	chr4:30815642-30838784	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30830200-30838400	Weak transcription	Fetal Stomach	stomach
2	chr4:30830600-30837800	Weak transcription	NH-A	brain
3	chr4:30830800-30838400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:30833400-30842800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:30834600-30838000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:30834800-30838600	Enhancers	Fetal Heart	heart
7	chr4:30835200-30838400	Weak transcription	Left Ventricle	heart
8	chr4:30835200-30842800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:30835400-30838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:30835800-30837200	Enhancers	Aorta	Aorta
11	chr4:30836200-30837200	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:30836400-30838600	Weak transcription	Fetal Lung	lung
13	chr4:30836600-30837400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:30836600-30842400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:30836800-30837200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:30836800-30837200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:30836800-30837200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:30836800-30837400	Enhancers	Fetal Muscle Leg	muscle
19	chr4:30836800-30837400	Enhancers	Right Ventricle	heart
20	chr4:30837000-30837200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr4:30837000-30837200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:30837000-30837400	Enhancers	Stomach Smooth Muscle	stomach
23	chr4:30837000-30838400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:30837000-30839400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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