Variant report

Variant	rs8101476
Chromosome Location	chr19:38249018-38249019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10424047	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11878261	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11880056	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11883255	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34206817	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56075341	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56264690	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57504517	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57725815	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57867853	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59966837	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62108348	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62108350	0.95[ASN][1000 genomes]
rs62108354	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62110178	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62110183	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62110185	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62110186	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62110187	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62110188	1.00[ASN][1000 genomes]
rs7246147	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7247345	1.00[ASN][1000 genomes]
rs73932955	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8104124	0.83[AMR][1000 genomes];1.00[ASN][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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38230800-38251400	Weak transcription	Pancreas	Pancrea
2	chr19:38230800-38252600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:38230800-38259800	Weak transcription	Fetal Thymus	thymus
4	chr19:38231000-38250400	Weak transcription	Brain Substantia Nigra	brain
5	chr19:38231000-38258200	Weak transcription	Brain Anterior Caudate	brain
6	chr19:38231000-38258400	Weak transcription	Fetal Kidney	kidney
7	chr19:38231000-38258800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr19:38231000-38260400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:38231400-38250600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr19:38231400-38255800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr19:38231400-38259400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr19:38231400-38259800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:38231800-38253200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:38231800-38257600	Weak transcription	HSMM	muscle
15	chr19:38231800-38258200	Weak transcription	HSMMtube	muscle
16	chr19:38231800-38269200	Weak transcription	Fetal Brain Male	brain
17	chr19:38232200-38250600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr19:38232200-38253000	Weak transcription	Colon Smooth Muscle	Colon
19	chr19:38232400-38252000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr19:38232400-38253600	Weak transcription	Right Ventricle	heart
21	chr19:38232400-38254000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:38232400-38255600	Weak transcription	Psoas Muscle	Psoas
23	chr19:38232400-38256600	Weak transcription	Dnd41	blood
24	chr19:38235200-38250600	Weak transcription	Gastric	stomach
25	chr19:38235200-38253200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:38235400-38251400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr19:38235400-38252800	Weak transcription	Brain Hippocampus Middle	brain
28	chr19:38235600-38250800	Weak transcription	Fetal Stomach	stomach
29	chr19:38235600-38251400	Weak transcription	Fetal Muscle Leg	muscle
30	chr19:38236400-38269400	Weak transcription	Aorta	Aorta
31	chr19:38236600-38250400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr19:38236600-38250400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:38237000-38260400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr19:38237400-38252600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:38237400-38252800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:38238400-38250600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:38238400-38250600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr19:38238800-38249200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:38238800-38251800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr19:38238800-38253200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:38238800-38253200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:38238800-38254000	Weak transcription	Fetal Brain Female	brain
43	chr19:38238800-38269400	Weak transcription	Small Intestine	intestine
44	chr19:38239000-38252600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr19:38239000-38253600	Weak transcription	Fetal Intestine Large	intestine
46	chr19:38239000-38269400	Weak transcription	Colonic Mucosa	Colon
47	chr19:38239400-38250600	Weak transcription	Ovary	ovary
48	chr19:38239400-38256600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr19:38239400-38257400	Weak transcription	Brain Angular Gyrus	brain
50	chr19:38239600-38252600	Weak transcription	Brain Inferior Temporal Lobe	brain

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