Variant report

Variant	rs13012322
Chromosome Location	chr2:210297938-210297939
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12986778	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12998272	0.87[EUR][1000 genomes]
rs12999670	0.87[EUR][1000 genomes]
rs13022552	0.87[EUR][1000 genomes]
rs13023112	0.87[EUR][1000 genomes]
rs13032935	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16842834	0.81[EUR][1000 genomes]
rs16842899	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16842900	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16842904	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16842906	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2167933	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs33975733	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs34018539	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs34319559	0.83[AFR][1000 genomes]
rs34445752	1.00[EUR][1000 genomes]
rs34565674	0.87[EUR][1000 genomes]
rs34578885	0.87[EUR][1000 genomes]
rs34643755	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs35216876	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35321790	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs35347413	0.81[EUR][1000 genomes]
rs35664672	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs35955770	0.81[EUR][1000 genomes]
rs35978314	0.81[EUR][1000 genomes]
rs36013249	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4474826	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs56086088	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs59984943	0.87[EUR][1000 genomes]
rs61491315	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6736396	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9967799	0.84[AFR][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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210290000-210300200	Weak transcription	Pancreas	Pancrea
2	chr2:210290200-210300200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:210293200-210304000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:210293600-210298000	Weak transcription	Fetal Brain Female	brain
5	chr2:210293600-210302600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:210295400-210298200	Enhancers	NHEK	skin
7	chr2:210295600-210298200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:210295800-210298200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:210296800-210301400	Weak transcription	Fetal Brain Male	brain
10	chr2:210297000-210298800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:210297200-210298000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:210297200-210298000	Weak transcription	Brain Germinal Matrix	brain
13	chr2:210297200-210298200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:210297200-210298600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:210297200-210306200	Weak transcription	Aorta	Aorta
16	chr2:210297200-210306400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:210297400-210300000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:210297400-210303400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:210297400-210307400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:210297600-210298000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:210297600-210298200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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