Variant report

Variant	rs185116984
Chromosome Location	chr12:51518429-51518430
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	chr12:51516030..51518469-chr12:51520883..51522469,2	K562	blood:
2	chr12:51475824..51478649-chr12:51516706..51519135,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction

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	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv983323	chr12:51518356-51519057	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51477800-51550200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:51484000-51519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:51488400-51526600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:51496400-51523400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:51501000-51521000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:51502200-51527200	Weak transcription	Colonic Mucosa	Colon
7	chr12:51502800-51531800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:51503200-51518600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:51503200-51560200	Weak transcription	Right Ventricle	heart
10	chr12:51503600-51532000	Weak transcription	Brain Angular Gyrus	brain
11	chr12:51504800-51518600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:51504800-51518600	Weak transcription	Brain Substantia Nigra	brain
13	chr12:51504800-51518800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:51504800-51563400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:51507600-51519800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:51507800-51532200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:51507800-51539800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:51508000-51543000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:51509600-51520800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:51509800-51518600	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:51510200-51518600	Weak transcription	Brain Anterior Caudate	brain
22	chr12:51510200-51518600	Weak transcription	NHDF-Ad	bronchial
23	chr12:51510200-51519200	Weak transcription	Fetal Heart	heart
24	chr12:51510200-51520400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:51510200-51526000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:51510200-51536200	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:51510200-51554400	Weak transcription	K562	blood
28	chr12:51511400-51518600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:51511400-51518600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:51511400-51520800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:51511400-51531400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:51511400-51558800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:51512600-51518600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:51512600-51519200	Weak transcription	Small Intestine	intestine
35	chr12:51512800-51518600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:51512800-51519800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:51512800-51535600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:51513000-51518600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:51513000-51520200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:51513000-51532200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr12:51513000-51565400	Weak transcription	Fetal Lung	lung
42	chr12:51513200-51518600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:51513200-51518600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:51513200-51518800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr12:51513200-51518800	Weak transcription	HSMM	muscle
46	chr12:51513200-51520000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:51513200-51520200	Weak transcription	Osteobl	bone
48	chr12:51513200-51522600	Weak transcription	NH-A	brain
49	chr12:51513200-51524200	Weak transcription	Fetal Brain Male	brain
50	chr12:51513200-51531600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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