Variant report

Variant	rs73038876
Chromosome Location	chr12:4877689-4877690
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4877676..4880260-chr12:4884636..4887457,2	MCF-7	breast:

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	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809919	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12816272	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817218	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821116	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827952	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831221	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16931649	1.00[ASN][1000 genomes]
rs17701871	1.00[ASN][1000 genomes]
rs2286579	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34205979	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34214125	1.00[ASN][1000 genomes]
rs34310347	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34337517	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34475613	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34502100	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34765166	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34947765	1.00[ASN][1000 genomes]
rs34952740	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35016874	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35288424	1.00[ASN][1000 genomes]
rs35342320	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35464779	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35562639	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35715089	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35878255	1.00[ASN][1000 genomes]
rs35899818	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35925396	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766273	1.00[ASN][1000 genomes]
rs5007510	1.00[ASN][1000 genomes]
rs55760751	1.00[ASN][1000 genomes]
rs59096706	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59986414	1.00[ASN][1000 genomes]
rs66703365	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67871557	1.00[ASN][1000 genomes]
rs68144469	1.00[ASN][1000 genomes]
rs71459918	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306593	1.00[ASN][1000 genomes]
rs960763	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	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
2	esv3332578	chr12:4874835-4877804	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4867200-4880200	Weak transcription	Spleen	Spleen
2	chr12:4869800-4884200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:4871800-4877800	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:4873200-4879800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:4873200-4881800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:4873200-4889800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:4873400-4881200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:4873400-4889400	Weak transcription	Ovary	ovary
9	chr12:4874600-4881000	Weak transcription	Fetal Brain Female	brain
10	chr12:4875000-4878200	Enhancers	Fetal Muscle Leg	muscle
11	chr12:4875600-4877800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:4875600-4879400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:4875600-4881400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:4876400-4878200	Weak transcription	Adipose Nuclei	Adipose
15	chr12:4876600-4877800	Weak transcription	Fetal Heart	heart
16	chr12:4876600-4878200	Weak transcription	Fetal Brain Male	brain
17	chr12:4876600-4880400	Weak transcription	Lung	lung
18	chr12:4876600-4881400	Weak transcription	Brain Germinal Matrix	brain
19	chr12:4876800-4877800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:4876800-4878000	Weak transcription	Right Ventricle	heart
21	chr12:4876800-4878200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:4876800-4878200	Weak transcription	Left Ventricle	heart
23	chr12:4876800-4878200	Weak transcription	Right Atrium	heart
24	chr12:4877000-4885800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:4877600-4878000	Enhancers	Fetal Lung	lung

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