Variant report

Variant	rs59999353
Chromosome Location	chr2:210315905-210315906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:210287559..210290365-chr2:210315823..210318569,2	MCF-7	breast:
2	chr2:210313244..210314912-chr2:210314992..210317272,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078018	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11892923	0.91[AFR][1000 genomes]
rs11898015	0.91[AFR][1000 genomes]
rs13383482	0.81[EUR][1000 genomes]
rs13394033	0.81[EUR][1000 genomes]
rs16842908	0.85[AFR][1000 genomes]
rs16843062	0.88[EUR][1000 genomes]
rs16843177	0.88[EUR][1000 genomes]
rs17237076	0.96[EUR][1000 genomes]
rs17238784	0.96[EUR][1000 genomes]
rs17239083	0.92[EUR][1000 genomes]
rs17308504	1.00[EUR][1000 genomes]
rs17309028	0.96[EUR][1000 genomes]
rs17309518	0.96[EUR][1000 genomes]
rs17316313	0.96[EUR][1000 genomes]
rs17317645	0.88[EUR][1000 genomes]
rs17317756	0.92[EUR][1000 genomes]
rs28650191	0.91[AFR][1000 genomes]
rs288095	0.88[EUR][1000 genomes]
rs58195909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59649490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60457662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67965833	0.93[AFR][1000 genomes]
rs73067004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069087	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069088	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069096	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7603804	0.88[EUR][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	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1005298	chr2:210277791-210318067	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210306600-210337000	Weak transcription	Aorta	Aorta
2	chr2:210308600-210324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:210310200-210316000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:210312800-210322400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:210314800-210317400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:210315200-210316000	Weak transcription	Brain Germinal Matrix	brain
7	chr2:210315400-210316000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:210315400-210316000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:210315600-210318200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:210315800-210316000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:210315800-210316200	Weak transcription	Pancreas	Pancrea
12	chr2:210315800-210316400	Enhancers	Fetal Brain Male	brain
13	chr2:210315800-210316600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr2:210315800-210316600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:210315800-210317000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:210315800-210317000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:210315800-210317000	Enhancers	Fetal Brain Female	brain
18	chr2:210315800-210317200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:210315800-210317400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:210315800-210318000	Enhancers	HUES64 Cell Line	embryonic stem cell

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