Variant report

Variant	rs2972443
Chromosome Location	chr19:38214006-38214007
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38212285..38216569-chr19:38218099..38220854,3	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs2216299	1.00[AMR][1000 genomes]
rs2248576	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2385006	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs241934	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs241936	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs241938	1.00[AMR][1000 genomes]
rs241939	1.00[AMR][1000 genomes]
rs241945	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs241958	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs241961	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2891656	1.00[AMR][1000 genomes]
rs2909087	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2909089	1.00[AMR][1000 genomes]
rs2909090	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2909091	1.00[AMR][1000 genomes]
rs2909094	1.00[AMR][1000 genomes]
rs2909095	1.00[AMR][1000 genomes]
rs2909096	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2909099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2909101	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2909107	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972429	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972431	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972432	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972433	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972435	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972442	0.88[AFR][1000 genomes]
rs2972450	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972451	1.00[AMR][1000 genomes]
rs2972460	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3095723	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3095725	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3112436	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34301943	1.00[AMR][1000 genomes]
rs59246699	1.00[AMR][1000 genomes]
rs61744939	1.00[AMR][1000 genomes]
rs6508734	1.00[AMR][1000 genomes]
rs6508740	1.00[AMR][1000 genomes]
rs7245613	1.00[AMR][1000 genomes]
rs7245750	1.00[AMR][1000 genomes]
rs7249524	1.00[AMR][1000 genomes]
rs7250160	1.00[AMR][1000 genomes]
rs7251623	1.00[AMR][1000 genomes]
rs7252424	1.00[AMR][1000 genomes]
rs7259281	1.00[AMR][1000 genomes]
rs8106132	1.00[AMR][1000 genomes]
rs8107942	1.00[AMR][1000 genomes]
rs8112992	1.00[AMR][1000 genomes]
rs856294	1.00[AMR][1000 genomes]
rs856296	1.00[AMR][1000 genomes]
rs856297	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs856303	1.00[AMR][1000 genomes]
rs978723	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr19:38210800-38229400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:38211000-38219000	Weak transcription	Ovary	ovary
3	chr19:38211000-38222000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr19:38211000-38224600	Weak transcription	Fetal Stomach	stomach
5	chr19:38211000-38225200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr19:38211000-38225200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:38211000-38226400	Weak transcription	Psoas Muscle	Psoas
8	chr19:38211000-38227600	Weak transcription	Brain Hippocampus Middle	brain
9	chr19:38211000-38228400	Weak transcription	Fetal Muscle Leg	muscle
10	chr19:38211000-38228600	Weak transcription	Brain Substantia Nigra	brain
11	chr19:38211000-38229200	Weak transcription	Fetal Kidney	kidney
12	chr19:38211000-38229200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr19:38211000-38229200	Weak transcription	Left Ventricle	heart
14	chr19:38211000-38229400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:38211000-38229400	Weak transcription	Brain Germinal Matrix	brain
16	chr19:38211000-38229400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr19:38211000-38230200	Weak transcription	Hela-S3	cervix
18	chr19:38211200-38225600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr19:38211200-38229200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr19:38211200-38229200	Weak transcription	Fetal Brain Female	brain
21	chr19:38211200-38229200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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