Variant report

Variant	rs73917243
Chromosome Location	chr2:11664506-11664507
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11664218..11665170-chr2:11679379..11680304,6	MCF-7	breast:
2	chr2:11638393..11639308-chr2:11664260..11665186,6	MCF-7	breast:
3	chr2:11664281..11665183-chr2:11679329..11680261,4	MCF-7	breast:
4	chr2:11638473..11639328-chr2:11664296..11665186,5	MCF-7	breast:
5	chr2:11638523..11639301-chr2:11664296..11665220,4	MCF-7	breast:
6	chr2:11664276..11665170-chr2:11679379..11680289,5	MCF-7	breast:
7	chr2:11663500..11666422-chr2:11667981..11669771,2	K562	blood:

Variant related genes	Relation type
ENSG00000196208	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56393100	1.00[AMR][1000 genomes]
rs57683597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61394202	1.00[AMR][1000 genomes]
rs73915405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915408	1.00[AMR][1000 genomes]
rs73915414	1.00[AMR][1000 genomes]
rs73915415	1.00[AMR][1000 genomes]
rs73917204	1.00[AMR][1000 genomes]
rs73917246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73917247	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11647000-11665800	Weak transcription	Right Atrium	heart
2	chr2:11656200-11671000	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:11656200-11672800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:11661200-11666800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:11662400-11668000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:11662800-11665600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:11663600-11664800	Enhancers	Ovary	ovary
8	chr2:11664000-11664600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:11664000-11664800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:11664000-11664800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:11664000-11665000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr2:11664200-11664600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:11664200-11665000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:11664200-11665000	Genic enhancers	HepG2	liver
15	chr2:11664200-11666000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:11664400-11664600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:11664400-11664600	Enhancers	Fetal Stomach	stomach
18	chr2:11664400-11665000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:11664400-11665000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:11664400-11665000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:11664400-11665000	Enhancers	Left Ventricle	heart
22	chr2:11664400-11665000	Enhancers	Right Ventricle	heart

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