Variant report

Variant	rs66703365
Chromosome Location	chr12:4831366-4831367
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11063307	1.00[ASN][1000 genomes]
rs12809178	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809919	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12816272	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817218	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821116	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827952	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831221	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16931649	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17701871	1.00[ASN][1000 genomes]
rs2286579	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34205979	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34214125	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34310347	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34337517	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34475613	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34502100	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34765166	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34947765	1.00[ASN][1000 genomes]
rs34952740	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35016874	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35288424	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35342320	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35464779	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35562639	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35715089	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35878255	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35899818	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35925396	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766273	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5007510	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55760751	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59096706	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59986414	1.00[ASN][1000 genomes]
rs67871557	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68144469	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71459918	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038876	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306593	1.00[ASN][1000 genomes]
rs960763	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1054218	chr12:4819576-4882667	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr12:4811200-4833600	Weak transcription	Brain Germinal Matrix	brain
2	chr12:4825800-4838200	Weak transcription	Gastric	stomach
3	chr12:4827400-4849600	Weak transcription	Fetal Brain Female	brain
4	chr12:4829200-4831400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:4830400-4831400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:4830400-4831400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:4830400-4831400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:4830400-4831400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:4830400-4833400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:4830400-4846400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:4830600-4831400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:4830600-4831400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:4830600-4832200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr12:4831000-4831800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:4831000-4832000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:4831000-4832400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr12:4831000-4832600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:4831000-4832600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:4831200-4832000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr12:4831200-4832000	Enhancers	Rectal Mucosa Donor 31	rectum

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