Variant report

Variant	rs620336
Chromosome Location	chr1:211712208-211712209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211710767..211712862-chr1:211741822..211743757,2	MCF-7	breast:
2	chr1:211710959..211712610-chr1:211715464..211717291,2	K562	blood:
3	chr1:211712198..211717179-chr1:211748278..211753995,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1147663	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1777828	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs609832	1.00[AMR][1000 genomes]
rs621213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6664630	0.81[EUR][1000 genomes]
rs784837	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr1:211689400-211715000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:211701800-211712400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:211705200-211714600	Weak transcription	Right Atrium	heart
4	chr1:211705600-211714800	Weak transcription	Brain Anterior Caudate	brain
5	chr1:211705600-211714800	Weak transcription	Right Ventricle	heart
6	chr1:211708200-211714600	Weak transcription	Pancreas	Pancrea
7	chr1:211710000-211712600	Enhancers	Stomach Mucosa	stomach
8	chr1:211710200-211714600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:211710600-211713000	Enhancers	Fetal Muscle Trunk	muscle
10	chr1:211711000-211712800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:211711000-211713000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:211711400-211713000	Enhancers	Fetal Muscle Leg	muscle
13	chr1:211711600-211712600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:211711600-211712600	Enhancers	Fetal Heart	heart
15	chr1:211711600-211712800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:211711600-211713000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:211711800-211714600	Weak transcription	Esophagus	oesophagus
18	chr1:211711800-211716000	Weak transcription	Spleen	Spleen
19	chr1:211712000-211714600	Weak transcription	Left Ventricle	heart
20	chr1:211712200-211712800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:211712200-211713000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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