Variant report

Variant	rs8104124
Chromosome Location	chr19:38226997-38226998
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	chr19:38225257..38227730-chr19:38293878..38296712,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10153500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1038084	0.90[YRI][hapmap]
rs10407657	0.90[YRI][hapmap]
rs10424047	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10424612	0.90[YRI][hapmap]
rs11878261	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11879149	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11880056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11880604	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11883255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2075282	1.00[JPT][hapmap]
rs2927743	0.81[YRI][hapmap]
rs2927744	0.95[YRI][hapmap]
rs34206817	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34743484	0.88[EUR][1000 genomes]
rs45505797	0.83[EUR][1000 genomes]
rs4802069	0.95[YRI][hapmap]
rs4803216	0.90[YRI][hapmap]
rs56075341	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56264690	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56281742	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57504517	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57725815	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57867853	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59966837	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60686304	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62108260	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62108262	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62108289	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62108290	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62108292	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62108293	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62108297	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62108344	0.83[AFR][1000 genomes]
rs62108348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62108350	0.95[ASN][1000 genomes]
rs62108354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62110178	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110185	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110186	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110187	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110188	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62111488	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62111490	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246147	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7247175	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7247345	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7255283	0.90[YRI][hapmap]
rs7258992	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7259029	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7259272	0.88[CHB][hapmap]
rs7259717	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73930999	0.83[EUR][1000 genomes]
rs73932929	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932955	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8101476	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8101991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8102189	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8104747	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8108261	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113076	0.90[YRI][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:49 , 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	chr19:38211000-38227600	Weak transcription	Brain Hippocampus Middle	brain
3	chr19:38211000-38228400	Weak transcription	Fetal Muscle Leg	muscle
4	chr19:38211000-38228600	Weak transcription	Brain Substantia Nigra	brain
5	chr19:38211000-38229200	Weak transcription	Fetal Kidney	kidney
6	chr19:38211000-38229200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr19:38211000-38229200	Weak transcription	Left Ventricle	heart
8	chr19:38211000-38229400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:38211000-38229400	Weak transcription	Brain Germinal Matrix	brain
10	chr19:38211000-38229400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:38211000-38230200	Weak transcription	Hela-S3	cervix
12	chr19:38211200-38229200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:38211200-38229200	Weak transcription	Fetal Brain Female	brain
14	chr19:38211200-38229200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr19:38218400-38229200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr19:38221200-38241800	ZNF genes & repeats	Liver	Liver
17	chr19:38223800-38227000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:38224000-38229400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:38224600-38241600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:38224800-38229200	Weak transcription	Fetal Lung	lung
21	chr19:38225200-38227200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
22	chr19:38225200-38232400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr19:38225200-38232400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:38225200-38232400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
25	chr19:38225200-38232400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr19:38225200-38232400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
27	chr19:38225200-38237200	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr19:38225400-38227200	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr19:38225400-38231600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:38225400-38232400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:38225400-38232400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr19:38225600-38227000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
33	chr19:38225600-38227600	Strong transcription	Ovary	ovary
34	chr19:38225600-38227800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr19:38225600-38227800	Weak transcription	Pancreas	Pancrea
36	chr19:38225600-38228000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr19:38225600-38228400	Weak transcription	Fetal Stomach	stomach
38	chr19:38225600-38229200	Weak transcription	Right Ventricle	heart
39	chr19:38225800-38227800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:38226000-38227600	ZNF genes & repeats	Small Intestine	intestine
41	chr19:38226000-38228600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr19:38226000-38232200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr19:38226200-38227200	ZNF genes & repeats	Primary B cells from cord blood	blood
44	chr19:38226200-38232200	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr19:38226200-38232400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:38226400-38229200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:38226600-38229200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr19:38226800-38228400	Weak transcription	Colon Smooth Muscle	Colon
49	chr19:38226800-38228800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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