Variant report

Variant	rs575996276
Chromosome Location	chr12:51214611-51214612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51207076..51210339-chr12:51211809..51214905,4	K562	blood:
2	chr12:51212755..51215653-chr12:51225131..51226878,2	K562	blood:
3	chr12:51213097..51215653-chr12:51224289..51226631,2	K562	blood:
4	chr12:51206635..51209642-chr12:51213405..51216758,3	K562	blood:

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	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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51190200-51215200	Weak transcription	Pancreas	Pancrea
2	chr12:51198600-51215400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr12:51200600-51222200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:51202800-51215000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:51204400-51215400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:51205000-51228200	Weak transcription	Gastric	stomach
7	chr12:51205200-51217600	Weak transcription	Psoas Muscle	Psoas
8	chr12:51207400-51215000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:51208000-51219000	Weak transcription	Stomach Mucosa	stomach
10	chr12:51208400-51216600	Weak transcription	GM12878-XiMat	blood
11	chr12:51208400-51218800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:51208400-51219000	Weak transcription	HSMMtube	muscle
13	chr12:51208400-51219000	Weak transcription	NHLF	lung
14	chr12:51208600-51219000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:51208800-51215200	Weak transcription	Small Intestine	intestine
16	chr12:51209400-51215400	Strong transcription	Hela-S3	cervix
17	chr12:51209800-51219000	Weak transcription	Fetal Kidney	kidney
18	chr12:51210200-51214800	Weak transcription	Brain Germinal Matrix	brain
19	chr12:51210200-51222000	Weak transcription	Esophagus	oesophagus
20	chr12:51210400-51217800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:51210400-51218200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:51210400-51219000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:51210600-51214800	Weak transcription	Lung	lung
24	chr12:51210600-51215800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:51210600-51219000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:51210600-51222000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:51210600-51223400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:51210800-51218800	Weak transcription	HMEC	breast
29	chr12:51210800-51218800	Weak transcription	NHEK	skin
30	chr12:51211000-51218800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:51211000-51218800	Weak transcription	Brain Anterior Caudate	brain
32	chr12:51211000-51218800	Weak transcription	Brain Substantia Nigra	brain
33	chr12:51211000-51218800	Weak transcription	K562	blood
34	chr12:51211000-51219000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr12:51211000-51222000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:51211000-51222000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:51211800-51218600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr12:51212200-51215000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:51212200-51215600	Weak transcription	Brain Angular Gyrus	brain
40	chr12:51212200-51216000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:51212200-51216800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:51212200-51218000	Weak transcription	HepG2	liver
43	chr12:51212200-51218800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr12:51212200-51218800	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:51212200-51219000	Weak transcription	Fetal Intestine Large	intestine
46	chr12:51212200-51219400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:51212200-51219400	Weak transcription	Aorta	Aorta
48	chr12:51212200-51219400	Weak transcription	Ovary	ovary
49	chr12:51212400-51215400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:51212400-51216800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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