Variant report

Variant	rs16975375
Chromosome Location	chr19:38219438-38219439
allele	C/T
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: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs16958869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16972326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16973541	0.85[CHB][hapmap]
rs16973717	0.85[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973886	0.85[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973890	0.85[CHB][hapmap]
rs16973919	0.84[CHB][hapmap]
rs16974061	0.85[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16974358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16975696	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16975712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16975753	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16975859	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2045907	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2061779	0.85[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2290998	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2306200	0.85[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2385128	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3745940	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs3745941	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs3795068	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3795070	0.82[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs41325249	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4330033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4452074	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8108032	0.85[CHB][hapmap]
rs955711	0.84[CHB][hapmap]

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:28 , 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	chr19:38211000-38222000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr19:38211000-38224600	Weak transcription	Fetal Stomach	stomach
4	chr19:38211000-38225200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr19:38211000-38225200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:38211000-38226400	Weak transcription	Psoas Muscle	Psoas
7	chr19:38211000-38227600	Weak transcription	Brain Hippocampus Middle	brain
8	chr19:38211000-38228400	Weak transcription	Fetal Muscle Leg	muscle
9	chr19:38211000-38228600	Weak transcription	Brain Substantia Nigra	brain
10	chr19:38211000-38229200	Weak transcription	Fetal Kidney	kidney
11	chr19:38211000-38229200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr19:38211000-38229200	Weak transcription	Left Ventricle	heart
13	chr19:38211000-38229400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr19:38211000-38229400	Weak transcription	Brain Germinal Matrix	brain
15	chr19:38211000-38229400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:38211000-38230200	Weak transcription	Hela-S3	cervix
17	chr19:38211200-38225600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr19:38211200-38229200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr19:38211200-38229200	Weak transcription	Fetal Brain Female	brain
20	chr19:38211200-38229200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr19:38215600-38219600	ZNF genes & repeats	Liver	Liver
22	chr19:38218200-38220600	Weak transcription	Fetal Intestine Small	intestine
23	chr19:38218400-38229200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr19:38218800-38221400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr19:38219000-38221400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:38219000-38221600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr19:38219400-38221800	Weak transcription	Pancreas	Pancrea
28	chr19:38219400-38224600	Weak transcription	Ovary	ovary

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