Variant report

Variant	rs111620654
Chromosome Location	chr12:122481898-122481899
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122459163..122461527-chr12:122480980..122483460,2	K562	blood:
2	chr12:122459897..122461527-chr12:122480652..122483460,2	K562	blood:
3	chr12:122459785..122461389-chr12:122480807..122483366,2	MCF-7	breast:
4	chr12:122469231..122471324-chr12:122480091..122482011,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110987	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122461600-122492400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:122462000-122492400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:122462200-122489000	Weak transcription	HUVEC	blood vessel
4	chr12:122462400-122489000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:122462400-122490400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:122462400-122492200	Weak transcription	Stomach Mucosa	stomach
7	chr12:122462400-122500000	Weak transcription	Hela-S3	cervix
8	chr12:122466200-122500800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:122466400-122489000	Weak transcription	NHLF	lung
10	chr12:122466800-122490200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:122467800-122488800	Weak transcription	Right Atrium	heart
12	chr12:122467800-122500000	Strong transcription	Thymus	Thymus
13	chr12:122467800-122500200	Strong transcription	Dnd41	blood
14	chr12:122468000-122489200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:122468200-122492800	Weak transcription	NHDF-Ad	bronchial
16	chr12:122468400-122486000	Weak transcription	NH-A	brain
17	chr12:122468400-122489000	Strong transcription	Fetal Stomach	stomach
18	chr12:122468400-122489000	Weak transcription	Psoas Muscle	Psoas
19	chr12:122470000-122482600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:122470000-122488800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:122470000-122492400	Strong transcription	Fetal Thymus	thymus
22	chr12:122470000-122492400	Weak transcription	K562	blood
23	chr12:122470600-122488800	Weak transcription	Fetal Heart	heart
24	chr12:122470600-122489800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:122471000-122483000	Weak transcription	GM12878-XiMat	blood
26	chr12:122472000-122507200	Weak transcription	Fetal Brain Male	brain
27	chr12:122472400-122484800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr12:122472400-122489600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:122472600-122486000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:122472800-122488800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr12:122472800-122488800	Strong transcription	Fetal Muscle Leg	muscle
32	chr12:122472800-122489600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:122473000-122488200	Strong transcription	Stomach Smooth Muscle	stomach
34	chr12:122473000-122489600	Strong transcription	Fetal Brain Female	brain
35	chr12:122473200-122486400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:122473600-122492800	Weak transcription	Esophagus	oesophagus
37	chr12:122473800-122484800	Strong transcription	NHEK	skin
38	chr12:122474000-122496800	Weak transcription	HMEC	breast
39	chr12:122474400-122483400	Weak transcription	HSMM	muscle
40	chr12:122474400-122487600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr12:122474400-122492200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr12:122474400-122496600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:122474400-122500600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:122474600-122489000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:122474600-122492400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:122475200-122501400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:122475400-122485000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr12:122477800-122489600	Strong transcription	Brain Germinal Matrix	brain
49	chr12:122478000-122485600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:122478400-122482200	Weak transcription	Fetal Kidney	kidney

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