Variant report

Variant	rs569239483
Chromosome Location	chr12:22199586-22199587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:21809057..21812387-chr12:22198017..22201408,5	K562	blood:
2	chr12:22197898..22202531-chr12:22202616..22208309,9	MCF-7	breast:
3	chr12:22199214..22200031-chr14:75745051..75746052,3	Hela-S3	cervix:
4	chr12:22199280..22201713-chr12:22218617..22220760,2	MCF-7	breast:
5	chr12:22199115..22199725-chr2:74405298..74405841,2	Hela-S3	cervix:
6	chr12:21653863..21655490-chr12:22198033..22200548,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111711	Chromatin interaction
ENSG00000111716	Chromatin interaction
ENSG00000111726	Chromatin interaction
ENSG00000004700	Chromatin interaction
ENSG00000114978	Chromatin interaction
ENSG00000170345	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	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv438196	chr12:22195202-22234058	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv1850259	chr12:22198865-22244741	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22198400-22200600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr12:22198600-22199800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:22198600-22200800	Active TSS	Stomach Smooth Muscle	stomach
4	chr12:22198800-22199600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:22198800-22199600	Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr12:22198800-22199600	Active TSS	Primary T cells fromperipheralblood	blood
7	chr12:22198800-22199600	Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr12:22198800-22199600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr12:22198800-22199800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:22198800-22199800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:22198800-22199800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:22198800-22199800	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr12:22198800-22199800	Active TSS	Rectal Smooth Muscle	rectum
14	chr12:22198800-22199800	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr12:22198800-22200000	Active TSS	Primary T cells from cord blood	blood
16	chr12:22198800-22200000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:22198800-22200000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:22198800-22200000	Active TSS	Fetal Brain Female	brain
19	chr12:22198800-22200000	Active TSS	Fetal Stomach	stomach
20	chr12:22198800-22200200	Active TSS	Thymus	Thymus
21	chr12:22198800-22200400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:22198800-22200800	Active TSS	Fetal Muscle Leg	muscle
23	chr12:22199000-22199600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:22199000-22199600	Active TSS	Monocytes-CD14+_RO01746	blood
25	chr12:22199000-22199800	Active TSS	Primary monocytes fromperipheralblood	blood
26	chr12:22199000-22199800	Active TSS	Primary B cells from cord blood	blood
27	chr12:22199000-22199800	Active TSS	Primary B cells from peripheral blood	blood
28	chr12:22199000-22199800	Active TSS	Primary hematopoietic stem cells	blood
29	chr12:22199000-22199800	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr12:22199000-22199800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr12:22199000-22199800	Active TSS	Adipose Nuclei	Adipose
32	chr12:22199000-22199800	Active TSS	Brain Cingulate Gyrus	brain
33	chr12:22199000-22199800	Active TSS	Colon Smooth Muscle	Colon
34	chr12:22199000-22199800	Active TSS	Psoas Muscle	Psoas
35	chr12:22199000-22200000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:22199000-22200000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:22199000-22200000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:22199000-22200000	Active TSS	Brain Anterior Caudate	brain
39	chr12:22199000-22200000	Active TSS	Lung	lung
40	chr12:22199000-22200000	Active TSS	Pancreas	Pancrea
41	chr12:22199000-22200000	Active TSS	Dnd41	blood
42	chr12:22199000-22200000	Active TSS	HSMMtube	muscle
43	chr12:22199000-22200000	Active TSS	Osteobl	bone
44	chr12:22199000-22200200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:22199000-22200200	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr12:22199000-22200200	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr12:22199000-22200200	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr12:22199000-22200200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:22199000-22200200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:22199000-22200200	Active TSS	Primary hematopoietic stem cells short term culture	blood

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