Variant report

Variant	rs34949193
Chromosome Location	chr19:38234114-38234115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11083438	0.82[AMR][1000 genomes]
rs11083439	0.82[AMR][1000 genomes]
rs11665877	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11667454	0.86[EUR][1000 genomes]
rs11667457	0.86[EUR][1000 genomes]
rs11668434	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11668558	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11670655	0.86[EUR][1000 genomes]
rs11672077	0.86[EUR][1000 genomes]
rs12462485	0.83[AMR][1000 genomes]
rs12972712	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12981237	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12982288	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12983298	0.86[EUR][1000 genomes]
rs17306508	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1871197	0.86[EUR][1000 genomes]
rs2160640	0.86[EUR][1000 genomes]
rs2385116	0.85[EUR][1000 genomes]
rs241937	0.83[AMR][1000 genomes]
rs241940	0.86[AMR][1000 genomes]
rs241941	0.86[AMR][1000 genomes]
rs241942	0.86[AMR][1000 genomes]
rs241943	0.86[AMR][1000 genomes]
rs241944	0.86[AMR][1000 genomes]
rs241946	0.86[AMR][1000 genomes]
rs241947	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs241953	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs241957	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs241959	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs241960	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2909106	0.88[EUR][1000 genomes]
rs2927741	0.86[EUR][1000 genomes]
rs2972453	0.85[EUR][1000 genomes]
rs2972454	0.84[EUR][1000 genomes]
rs2972456	0.85[EUR][1000 genomes]
rs2972459	0.85[EUR][1000 genomes]
rs3112435	0.94[EUR][1000 genomes]
rs34351186	0.84[EUR][1000 genomes]
rs34607899	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34782935	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35015599	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35214625	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35273320	0.86[EUR][1000 genomes]
rs35415221	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36020184	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36092052	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3752365	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4482404	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57308437	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62108304	0.86[EUR][1000 genomes]
rs62108339	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62108355	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7253174	0.83[EUR][1000 genomes]
rs7254170	0.83[EUR][1000 genomes]
rs7254828	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs856302	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs856309	0.85[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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38221200-38241800	ZNF genes & repeats	Liver	Liver
2	chr19:38224600-38241600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:38225200-38237200	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:38229000-38238000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
5	chr19:38230800-38234800	Weak transcription	Gastric	stomach
6	chr19:38230800-38251400	Weak transcription	Pancreas	Pancrea
7	chr19:38230800-38252600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:38230800-38259800	Weak transcription	Fetal Thymus	thymus
9	chr19:38231000-38237200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:38231000-38237800	Weak transcription	Brain Angular Gyrus	brain
11	chr19:38231000-38246600	Weak transcription	Left Ventricle	heart
12	chr19:38231000-38246800	Weak transcription	Brain Germinal Matrix	brain
13	chr19:38231000-38250400	Weak transcription	Brain Substantia Nigra	brain
14	chr19:38231000-38258200	Weak transcription	Brain Anterior Caudate	brain
15	chr19:38231000-38258400	Weak transcription	Fetal Kidney	kidney
16	chr19:38231000-38258800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr19:38231000-38260400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr19:38231400-38250600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr19:38231400-38255800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr19:38231400-38259400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:38231400-38259800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:38231600-38235000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:38231600-38238200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr19:38231800-38235200	Weak transcription	Placenta	Placenta
25	chr19:38231800-38245800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr19:38231800-38253200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:38231800-38257600	Weak transcription	HSMM	muscle
28	chr19:38231800-38258200	Weak transcription	HSMMtube	muscle
29	chr19:38231800-38269200	Weak transcription	Fetal Brain Male	brain
30	chr19:38232000-38236600	Weak transcription	Fetal Brain Female	brain
31	chr19:38232200-38250600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr19:38232200-38253000	Weak transcription	Colon Smooth Muscle	Colon
33	chr19:38232400-38234800	Weak transcription	Primary B cells from cord blood	blood
34	chr19:38232400-38234800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr19:38232400-38234800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:38232400-38234800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr19:38232400-38235000	Weak transcription	Ovary	ovary
38	chr19:38232400-38236000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:38232400-38236800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr19:38232400-38237200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr19:38232400-38237800	Weak transcription	Small Intestine	intestine
42	chr19:38232400-38238200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr19:38232400-38242800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:38232400-38243200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr19:38232400-38252000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr19:38232400-38253600	Weak transcription	Right Ventricle	heart
47	chr19:38232400-38254000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:38232400-38255600	Weak transcription	Psoas Muscle	Psoas
49	chr19:38232400-38256600	Weak transcription	Dnd41	blood
50	chr19:38232600-38234800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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