Variant report

Variant	rs368997704
Chromosome Location	chr12:105519189-105519190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105502302..105504240-chr12:105518371..105521182,2	K562	blood:
2	chr12:105502740..105505259-chr12:105518776..105521182,3	K562	blood:
3	chr12:105517574..105520454-chr12:105529893..105532329,2	K562	blood:
4	chr12:105506299..105509664-chr12:105519012..105521246,3	MCF-7	breast:

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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv1826054	chr12:105505809-105568176	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1049296	chr12:105518764-105566079	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105502400-105524600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:105503000-105521800	Weak transcription	Stomach Mucosa	stomach
3	chr12:105503800-105525200	Weak transcription	Fetal Heart	heart
4	chr12:105503800-105544200	Weak transcription	Aorta	Aorta
5	chr12:105505200-105530000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:105505200-105531000	Strong transcription	HMEC	breast
7	chr12:105505200-105542600	Strong transcription	Fetal Thymus	thymus
8	chr12:105505200-105559800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:105505200-105564000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:105505200-105567400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:105505200-105573000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:105505600-105519200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:105505600-105530800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:105505600-105535200	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr12:105505600-105537200	Strong transcription	Osteobl	bone
16	chr12:105505600-105550000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr12:105505600-105573200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:105505800-105571400	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr12:105506000-105529000	Strong transcription	Primary hematopoietic stem cells	blood
20	chr12:105506000-105536800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:105506000-105537200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:105506400-105544600	Strong transcription	NHDF-Ad	bronchial
23	chr12:105506400-105573000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:105506600-105549200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:105506800-105568800	Strong transcription	Dnd41	blood
26	chr12:105506800-105572400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr12:105507000-105528400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:105507000-105573200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr12:105507200-105571400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr12:105507400-105565600	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr12:105507600-105527800	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:105507600-105571400	Strong transcription	HUVEC	blood vessel
33	chr12:105507600-105572800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:105507800-105563800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:105507800-105573200	Strong transcription	Placenta	Placenta
36	chr12:105508000-105526000	Strong transcription	GM12878-XiMat	blood
37	chr12:105508000-105549200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:105508000-105550400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:105508000-105565400	Strong transcription	Adipose Nuclei	Adipose
40	chr12:105508200-105572800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:105508400-105520000	Strong transcription	Fetal Intestine Large	intestine
42	chr12:105508400-105528000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:105508400-105531800	Strong transcription	Fetal Lung	lung
44	chr12:105508400-105562000	Strong transcription	Primary B cells from cord blood	blood
45	chr12:105508600-105525800	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr12:105508600-105526400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:105508600-105532400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:105508600-105536600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:105508600-105573000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:105508800-105565000	Strong transcription	Liver	Liver

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