Variant report

Variant	rs12619841
Chromosome Location	chr2:210213648-210213649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10185216	0.86[ASN][1000 genomes]
rs12613105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12613165	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12619417	0.83[ASN][1000 genomes]
rs12622639	0.96[ASN][1000 genomes]
rs12623474	1.00[ASN][1000 genomes]
rs1446593	0.99[ASN][1000 genomes]
rs1446594	0.99[ASN][1000 genomes]
rs17725929	1.00[ASN][1000 genomes]
rs17726115	1.00[ASN][1000 genomes]
rs35424736	0.89[ASN][1000 genomes]
rs57091157	0.95[ASN][1000 genomes]
rs57237067	1.00[ASN][1000 genomes]
rs57340402	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57477937	1.00[ASN][1000 genomes]
rs58527022	0.96[ASN][1000 genomes]
rs59168245	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59222491	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60124019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61002714	1.00[ASN][1000 genomes]
rs66484761	1.00[ASN][1000 genomes]
rs66889373	0.99[ASN][1000 genomes]
rs6711968	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6746759	0.99[ASN][1000 genomes]
rs67685639	1.00[ASN][1000 genomes]
rs72492734	0.89[ASN][1000 genomes]
rs73056336	0.96[ASN][1000 genomes]
rs73056341	0.96[ASN][1000 genomes]
rs73056354	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73056366	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73060554	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060555	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060558	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060566	0.89[ASN][1000 genomes]
rs7578275	1.00[ASN][1000 genomes]
rs7592166	1.00[ASN][1000 genomes]
rs7592320	0.97[ASN][1000 genomes]
rs7593140	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875761	chr2:209912108-210222004	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv460059	chr2:210058383-210215272	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv584308	chr2:210058383-210215272	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	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
7	nsv875764	chr2:210195717-210240990	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	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
9	nsv1014900	chr2:210205050-210235562	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1006636	chr2:210207332-210235562	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210212000-210214000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:210212800-210213800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:210212800-210214200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:210213000-210214400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:210213200-210213800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:210213200-210213800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:210213200-210213800	Enhancers	Brain Germinal Matrix	brain
8	chr2:210213200-210214000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:210213200-210214200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:210213200-210214400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:210213200-210214400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:210213400-210213800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:210213400-210214200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:210213600-210213800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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