Variant report

Variant	rs10083051
Chromosome Location	chr12:105514708-105514709
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	chr12:105508971..105510510-chr12:105512045..105514800,2	K562	blood:
2	chr12:105508775..105512282-chr12:105513307..105515805,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10082824	0.81[AFR][1000 genomes]
rs11112399	0.91[AFR][1000 genomes]
rs12309370	0.97[AFR][1000 genomes]
rs12313710	0.97[AFR][1000 genomes]

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	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

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	chr12:105502800-105516400	Weak transcription	Spleen	Spleen
3	chr12:105503000-105521800	Weak transcription	Stomach Mucosa	stomach
4	chr12:105503800-105516600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:105503800-105516600	Weak transcription	Gastric	stomach
6	chr12:105503800-105516800	Weak transcription	Esophagus	oesophagus
7	chr12:105503800-105517000	Weak transcription	Right Ventricle	heart
8	chr12:105503800-105525200	Weak transcription	Fetal Heart	heart
9	chr12:105503800-105544200	Weak transcription	Aorta	Aorta
10	chr12:105504000-105516600	Weak transcription	Psoas Muscle	Psoas
11	chr12:105504000-105517000	Weak transcription	Small Intestine	intestine
12	chr12:105505200-105517800	Strong transcription	HSMM	muscle
13	chr12:105505200-105530000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:105505200-105531000	Strong transcription	HMEC	breast
15	chr12:105505200-105542600	Strong transcription	Fetal Thymus	thymus
16	chr12:105505200-105559800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:105505200-105564000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:105505200-105567400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:105505200-105573000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:105505400-105519000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:105505600-105519200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:105505600-105530800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:105505600-105535200	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr12:105505600-105537200	Strong transcription	Osteobl	bone
25	chr12:105505600-105550000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr12:105505600-105573200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:105505800-105514800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:105505800-105516800	Strong transcription	NH-A	brain
29	chr12:105505800-105571400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr12:105506000-105529000	Strong transcription	Primary hematopoietic stem cells	blood
31	chr12:105506000-105536800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:105506000-105537200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:105506400-105544600	Strong transcription	NHDF-Ad	bronchial
34	chr12:105506400-105573000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:105506600-105549200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:105506800-105568800	Strong transcription	Dnd41	blood
37	chr12:105506800-105572400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr12:105507000-105528400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:105507000-105573200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr12:105507200-105571400	Strong transcription	Primary B cells from peripheral blood	blood
41	chr12:105507400-105565600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr12:105507600-105515000	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr12:105507600-105527800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:105507600-105571400	Strong transcription	HUVEC	blood vessel
45	chr12:105507600-105572800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:105507800-105514800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:105507800-105563800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:105507800-105573200	Strong transcription	Placenta	Placenta
49	chr12:105508000-105515000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:105508000-105526000	Strong transcription	GM12878-XiMat	blood

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