Variant report

Variant	rs59815296
Chromosome Location	chr12:49036400-49036401
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	chr12:49035786..49038249-chr12:49038357..49040344,2	K562	blood:
2	chr12:49033876..49037286-chr12:49037890..49040344,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11829853	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11833747	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11835040	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11837277	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11837337	0.81[AFR][1000 genomes]
rs11837959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898086	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2898088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34046666	0.81[EUR][1000 genomes]
rs34080613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35678179	1.00[AMR][1000 genomes]
rs36119652	0.81[AFR][1000 genomes]
rs3902957	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55956587	0.85[AFR][1000 genomes]
rs56182935	0.82[EUR][1000 genomes]
rs56934678	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58539734	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59304927	0.81[AFR][1000 genomes]
rs59708884	0.93[AFR][1000 genomes]
rs61496293	0.88[EUR][1000 genomes]
rs61751603	1.00[AMR][1000 genomes]
rs61942054	1.00[AMR][1000 genomes]
rs7299151	0.88[EUR][1000 genomes]
rs74088105	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs74088110	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs74089357	0.93[AFR][1000 genomes]
rs74089364	0.93[AFR][1000 genomes]
rs74089369	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49027600-49046600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:49027800-49036600	Weak transcription	Fetal Brain Male	brain
3	chr12:49028200-49045000	Weak transcription	Colonic Mucosa	Colon
4	chr12:49028400-49038000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:49028600-49037600	Weak transcription	HSMM	muscle
6	chr12:49030000-49047200	Weak transcription	Esophagus	oesophagus
7	chr12:49030200-49036800	Weak transcription	A549	lung
8	chr12:49031000-49036600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:49031400-49037400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:49031400-49043800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:49031800-49037000	Weak transcription	HSMMtube	muscle
12	chr12:49032200-49036600	Weak transcription	Adipose Nuclei	Adipose
13	chr12:49033200-49036800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:49033400-49036800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:49033600-49036600	Weak transcription	Osteobl	bone
16	chr12:49033800-49039000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:49033800-49045200	Weak transcription	Spleen	Spleen
18	chr12:49034000-49036600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:49034200-49036800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:49034400-49042400	Weak transcription	Thymus	Thymus
21	chr12:49034600-49036600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:49034600-49036800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
23	chr12:49034600-49045800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:49034800-49036800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:49034800-49036800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:49034800-49036800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:49034800-49038000	Weak transcription	Primary T cells from cord blood	blood
28	chr12:49034800-49041200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr12:49034800-49041800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:49034800-49044400	Weak transcription	NHEK	skin
31	chr12:49034800-49045200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:49034800-49045400	Weak transcription	NHDF-Ad	bronchial
33	chr12:49035000-49036800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:49035000-49037000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:49035000-49041200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:49035000-49044400	Weak transcription	Brain Anterior Caudate	brain
37	chr12:49035000-49045600	Weak transcription	K562	blood
38	chr12:49035200-49036400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:49035200-49036800	Weak transcription	Liver	Liver
40	chr12:49035200-49042200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:49035200-49046800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:49035400-49036400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:49035400-49036600	Weak transcription	Fetal Lung	lung
44	chr12:49035400-49037400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr12:49035400-49044600	Weak transcription	HMEC	breast
46	chr12:49035400-49046200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:49035400-49047000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:49035400-49047000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr12:49035600-49036600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:49035600-49038400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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