Variant report

Variant	rs578196397
Chromosome Location	chr12:51210380-51210381
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51156903..51159314-chr12:51210199..51212563,2	K562	blood:
2	chr12:51202962..51206871-chr12:51207911..51210941,4	K562	blood:

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction

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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv976745	chr12:51203441-51215185	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3425899	chr12:51210355-51210530	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	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	chr12:51190200-51215200	Weak transcription	Pancreas	Pancrea
2	chr12:51193200-51211200	Weak transcription	Aorta	Aorta
3	chr12:51194600-51214600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:51198600-51215400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr12:51200600-51222200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:51201400-51213800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:51201600-51212400	Strong transcription	Fetal Lung	lung
8	chr12:51201600-51213200	Strong transcription	Fetal Muscle Leg	muscle
9	chr12:51201800-51212200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:51201800-51212200	Strong transcription	Fetal Intestine Large	intestine
11	chr12:51201800-51212400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:51201800-51213800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:51202000-51213000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:51202000-51213200	Strong transcription	Fetal Stomach	stomach
15	chr12:51202200-51213200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:51202200-51213200	Strong transcription	Fetal Intestine Small	intestine
17	chr12:51202200-51213800	Strong transcription	Fetal Thymus	thymus
18	chr12:51202200-51214200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:51202600-51213800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:51202600-51214400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:51202800-51213600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:51202800-51214000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:51202800-51215000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:51203200-51212400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr12:51203200-51213400	Strong transcription	Primary B cells from cord blood	blood
26	chr12:51203200-51213800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:51203200-51213800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:51203200-51213800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr12:51203200-51213800	Strong transcription	Adipose Nuclei	Adipose
30	chr12:51203200-51213800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr12:51203200-51214000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr12:51203200-51214000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr12:51203200-51214200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:51203200-51214200	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:51203400-51211000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:51203400-51213200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:51203400-51213600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr12:51203400-51213800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:51203600-51212200	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr12:51203800-51211600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:51203800-51214000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:51204000-51210400	Strong transcription	Primary hematopoietic stem cells	blood
43	chr12:51204400-51212200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr12:51204400-51213000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:51204400-51213600	Strong transcription	Primary T cells from cord blood	blood
46	chr12:51204400-51215400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:51205000-51228200	Weak transcription	Gastric	stomach
48	chr12:51205200-51217600	Weak transcription	Psoas Muscle	Psoas
49	chr12:51206600-51212200	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:51207400-51210600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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