Variant report

Variant	rs189078333
Chromosome Location	chr12:124466297-124466298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124449321..124452195-chr12:124463375..124466375,3	MCF-7	breast:
2	chr12:124464712..124466327-chr12:124492500..124494762,2	K562	blood:
3	chr12:124466117..124470076-chr12:124471050..124474861,6	MCF-7	breast:
4	chr12:124461323..124463164-chr12:124465157..124466786,2	K562	blood:

Variant related genes	Relation type
ENSG00000269997	Chromatin interaction

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	esv3493374	chr12:124458433-124496012	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3493363	chr12:124458497-124495976	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3493385	chr12:124458565-124495928	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv1818097	chr12:124465667-124488972	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124458800-124466600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:124458800-124466600	Weak transcription	Spleen	Spleen
3	chr12:124459000-124468400	Weak transcription	Ovary	ovary
4	chr12:124459000-124470800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:124459000-124470800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:124459000-124472200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:124459000-124472600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:124459000-124472800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:124459000-124473400	Weak transcription	Esophagus	oesophagus
10	chr12:124459200-124473200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:124459200-124473400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:124459200-124477000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:124459200-124477200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:124459400-124466400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:124459400-124466600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:124459400-124466600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:124459400-124466800	Weak transcription	Right Atrium	heart
18	chr12:124459400-124467000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:124459400-124468400	Weak transcription	Adipose Nuclei	Adipose
20	chr12:124459400-124470800	Weak transcription	Primary T cells from cord blood	blood
21	chr12:124459400-124470800	Weak transcription	HSMMtube	muscle
22	chr12:124459400-124471000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:124459400-124472000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr12:124459400-124472600	Weak transcription	Thymus	Thymus
25	chr12:124459400-124474800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:124459400-124474800	Weak transcription	Colonic Mucosa	Colon
27	chr12:124459600-124466400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:124459600-124466600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:124459600-124468200	Weak transcription	Brain Substantia Nigra	brain
30	chr12:124459600-124468600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:124459600-124470200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:124459600-124471800	Weak transcription	NH-A	brain
33	chr12:124459600-124472600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr12:124459600-124473200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:124459600-124473400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:124459600-124474600	Weak transcription	Stomach Mucosa	stomach
37	chr12:124459800-124471600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr12:124459800-124473200	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:124460000-124472000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr12:124460200-124466400	Weak transcription	Brain Anterior Caudate	brain
41	chr12:124460200-124466400	Weak transcription	Gastric	stomach
42	chr12:124460200-124467400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:124460200-124474000	Weak transcription	Small Intestine	intestine
44	chr12:124460400-124468800	Weak transcription	Fetal Brain Male	brain
45	chr12:124460400-124479800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr12:124460800-124473200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:124460800-124475000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:124461000-124466600	Weak transcription	Pancreas	Pancrea
49	chr12:124461000-124468200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:124461000-124470400	Weak transcription	Primary B cells from cord blood	blood

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