Variant report

Variant	rs12460230
Chromosome Location	chr19:38101307-38101308
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38094621..38097474-chr19:38099198..38101401,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10500277	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11083427	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs11083428	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs11083430	0.90[JPT][hapmap]
rs1128327	0.90[JPT][hapmap]
rs11666662	0.90[JPT][hapmap]
rs11666738	0.81[JPT][hapmap]
rs11672440	0.81[JPT][hapmap]
rs12151280	0.81[JPT][hapmap]
rs12162238	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs12459013	0.90[JPT][hapmap]
rs12462271	0.90[JPT][hapmap]
rs12462505	0.90[JPT][hapmap]
rs17303301	0.90[JPT][hapmap]
rs2045911	0.83[ASN][1000 genomes]
rs2279150	0.90[JPT][hapmap]
rs2290999	0.81[JPT][hapmap]
rs241955	0.90[JPT][hapmap]
rs35205379	0.90[JPT][hapmap]
rs59426132	0.83[ASN][1000 genomes]
rs7248397	0.90[JPT][hapmap]
rs73031326	0.83[ASN][1000 genomes]
rs73033117	0.83[ASN][1000 genomes]
rs73033129	0.83[ASN][1000 genomes]
rs73033139	0.80[ASN][1000 genomes]
rs73033145	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38086600-38103200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:38087200-38103000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:38087800-38107400	ZNF genes & repeats	Liver	Liver
4	chr19:38089200-38107200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
5	chr19:38090400-38105200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
6	chr19:38090600-38105400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:38092200-38103400	Weak transcription	Thymus	Thymus
8	chr19:38092400-38102400	Weak transcription	Dnd41	blood
9	chr19:38093600-38102800	Weak transcription	Fetal Brain Female	brain
10	chr19:38093600-38105000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
11	chr19:38094600-38102600	Weak transcription	Fetal Brain Male	brain
12	chr19:38094600-38103200	Weak transcription	Brain Germinal Matrix	brain
13	chr19:38095400-38107200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr19:38095600-38105000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
15	chr19:38095600-38105400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:38096800-38105400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
17	chr19:38097400-38102600	Strong transcription	Brain Angular Gyrus	brain
18	chr19:38097400-38102600	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr19:38098200-38107200	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr19:38099800-38101400	Weak transcription	Left Ventricle	heart
21	chr19:38100000-38101400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr19:38100200-38101800	Strong transcription	Right Ventricle	heart
23	chr19:38100400-38102800	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr19:38100400-38103200	Weak transcription	Gastric	stomach
25	chr19:38100400-38103200	Strong transcription	Ovary	ovary
26	chr19:38100400-38103400	Weak transcription	Pancreas	Pancrea
27	chr19:38100600-38103200	Weak transcription	Aorta	Aorta
28	chr19:38100600-38104800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:38100600-38105200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
30	chr19:38100800-38101400	ZNF genes & repeats	Brain Anterior Caudate	brain
31	chr19:38100800-38101600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
32	chr19:38100800-38101600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
33	chr19:38100800-38101600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
34	chr19:38100800-38102800	Strong transcription	Colon Smooth Muscle	Colon
35	chr19:38100800-38103200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:38100800-38104800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
37	chr19:38100800-38105000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
38	chr19:38100800-38105000	ZNF genes & repeats	Primary T cells from cord blood	blood
39	chr19:38100800-38105000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
40	chr19:38100800-38106800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:38101000-38101400	ZNF genes & repeats	Fetal Kidney	kidney
42	chr19:38101000-38101600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:38101000-38101600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
44	chr19:38101000-38101600	ZNF genes & repeats	Brain Substantia Nigra	brain
45	chr19:38101000-38102800	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr19:38101000-38104600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:38101000-38104800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
48	chr19:38101000-38105200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
49	chr19:38101000-38105200	ZNF genes & repeats	Brain Hippocampus Middle	brain
50	chr19:38101000-38105200	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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