Variant report

Variant	rs572814917
Chromosome Location	chr12:50870013-50870014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv975631	chr12:50869725-50873862	Strong transcription Weak transcription Enhancers Genic enhancers	miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50809600-50872200	Weak transcription	Fetal Brain Male	brain
2	chr12:50819200-50870800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:50820200-50871000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:50821600-50871400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:50821600-50872800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:50825800-50873000	Strong transcription	Liver	Liver
7	chr12:50827400-50870400	Weak transcription	Stomach Mucosa	stomach
8	chr12:50831000-50874000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:50833400-50872800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:50834200-50872400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:50844400-50872400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:50846200-50873000	Strong transcription	Adipose Nuclei	Adipose
13	chr12:50846800-50872000	Weak transcription	Fetal Heart	heart
14	chr12:50849200-50878000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:50850000-50871600	Weak transcription	Small Intestine	intestine
16	chr12:50851200-50870800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:50851800-50872600	Strong transcription	Dnd41	blood
18	chr12:50852200-50871000	Strong transcription	Fetal Thymus	thymus
19	chr12:50852400-50872200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:50852400-50872600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:50852600-50873000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:50853000-50870800	Strong transcription	Fetal Muscle Leg	muscle
23	chr12:50853000-50871400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:50853800-50871400	Strong transcription	Osteobl	bone
25	chr12:50853800-50872600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:50854200-50873000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr12:50855000-50870800	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:50856200-50872200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:50856200-50872400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:50857600-50872400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:50857800-50872600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:50858000-50870800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:50858200-50871600	Weak transcription	Spleen	Spleen
34	chr12:50858400-50872400	Strong transcription	A549	lung
35	chr12:50859000-50872800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:50859600-50871800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:50860000-50870200	Strong transcription	Fetal Stomach	stomach
38	chr12:50860200-50871000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:50860400-50872400	Strong transcription	Placenta	Placenta
40	chr12:50860600-50870600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr12:50860600-50871400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr12:50860600-50872600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr12:50860600-50872600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr12:50860800-50870800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:50861000-50870200	Strong transcription	Fetal Intestine Small	intestine
46	chr12:50861200-50871000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr12:50861200-50872600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:50861600-50876200	Weak transcription	Right Ventricle	heart
49	chr12:50862000-50872600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:50862200-50870600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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