Variant report

Variant	rs34319559
Chromosome Location	chr2:210305963-210305964
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	chr2:210304298..210306345-chr2:210309816..210311784,2	MCF-7	breast:
2	chr2:210299119..210301868-chr2:210304043..210306218,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12986778	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs13012322	0.83[AFR][1000 genomes]
rs13032935	0.85[AFR][1000 genomes]
rs16842899	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16842900	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16842904	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16842906	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2167933	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs33975733	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs34018539	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs34643755	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35216876	0.85[AFR][1000 genomes]
rs35321790	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35664672	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs36013249	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4474826	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56086088	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs61491315	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6736396	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73984064	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210297200-210306200	Weak transcription	Aorta	Aorta
2	chr2:210297200-210306400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:210297400-210307400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:210298200-210306400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:210298200-210307200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:210298200-210309200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:210300400-210306400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:210300400-210312400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:210301400-210306200	Weak transcription	Fetal Brain Female	brain
10	chr2:210302000-210306200	Weak transcription	Fetal Brain Male	brain
11	chr2:210303400-210308800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:210304400-210306400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:210305000-210310400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:210305400-210306600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:210305400-210306800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:210305400-210307200	Enhancers	Brain Germinal Matrix	brain
17	chr2:210305600-210306400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:210305800-210306800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:210305800-210307400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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