Variant report

Variant	rs554872010
Chromosome Location	chr12:51216040-51216041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51215681..51217224-chr12:51232031..51234390,2	K562	blood:
2	chr12:51206635..51209642-chr12:51213405..51216758,3	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv899078	chr12:51213433-51286750	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3527700	chr12:51215835-51219508	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3527701	chr12:51215835-51219508	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51200600-51222200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:51205000-51228200	Weak transcription	Gastric	stomach
3	chr12:51205200-51217600	Weak transcription	Psoas Muscle	Psoas
4	chr12:51208000-51219000	Weak transcription	Stomach Mucosa	stomach
5	chr12:51208400-51216600	Weak transcription	GM12878-XiMat	blood
6	chr12:51208400-51218800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:51208400-51219000	Weak transcription	HSMMtube	muscle
8	chr12:51208400-51219000	Weak transcription	NHLF	lung
9	chr12:51208600-51219000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:51209800-51219000	Weak transcription	Fetal Kidney	kidney
11	chr12:51210200-51222000	Weak transcription	Esophagus	oesophagus
12	chr12:51210400-51217800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:51210400-51218200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:51210400-51219000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:51210600-51219000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:51210600-51222000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:51210600-51223400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:51210800-51218800	Weak transcription	HMEC	breast
19	chr12:51210800-51218800	Weak transcription	NHEK	skin
20	chr12:51211000-51218800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:51211000-51218800	Weak transcription	Brain Anterior Caudate	brain
22	chr12:51211000-51218800	Weak transcription	Brain Substantia Nigra	brain
23	chr12:51211000-51218800	Weak transcription	K562	blood
24	chr12:51211000-51219000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:51211000-51222000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:51211000-51222000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:51211800-51218600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:51212200-51216800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:51212200-51218000	Weak transcription	HepG2	liver
30	chr12:51212200-51218800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:51212200-51218800	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:51212200-51219000	Weak transcription	Fetal Intestine Large	intestine
33	chr12:51212200-51219400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:51212200-51219400	Weak transcription	Aorta	Aorta
35	chr12:51212200-51219400	Weak transcription	Ovary	ovary
36	chr12:51212400-51216800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:51212400-51218800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr12:51212400-51218800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:51212400-51219000	Weak transcription	A549	lung
40	chr12:51212400-51219600	Weak transcription	Fetal Lung	lung
41	chr12:51213000-51216800	Weak transcription	HSMM	muscle
42	chr12:51213000-51216800	Weak transcription	NH-A	brain
43	chr12:51213000-51219000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:51213000-51219000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:51213200-51218800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:51213200-51218800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:51213200-51219000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:51213200-51219000	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:51213200-51219000	Weak transcription	Thymus	Thymus
50	chr12:51213200-51219400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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