Variant report

Variant	rs550438105
Chromosome Location	chr12:118540156-118540157
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118540025..118541851-chr12:118573172..118576109,2	MCF-7	breast:
2	chr12:118539824..118542719-chr12:118557194..118560231,3	MCF-7	breast:
3	chr12:118490377..118492216-chr12:118538475..118541095,2	MCF-7	breast:
4	chr12:118497389..118502867-chr12:118535601..118543920,23	MCF-7	breast:
5	chr12:118536275..118537815-chr12:118538077..118540227,2	MCF-7	breast:
6	chr12:118498416..118504096-chr12:118537510..118543393,12	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAOK3-1	chr12:118539412-118540975	NONHSAT031022

No data

Variant related genes	Relation type
ENSG00000089220	Chromatin interaction
ENSG00000176871	Chromatin interaction
ENSG00000176834	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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv560389	chr12:118502467-118564087	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv899546	chr12:118515230-118563982	Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
4	esv3357072	chr12:118540094-118543142	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118500800-118540800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:118501000-118540200	Weak transcription	HUVEC	blood vessel
3	chr12:118501000-118540800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:118501000-118540800	Weak transcription	NH-A	brain
5	chr12:118501200-118540400	Weak transcription	Brain Germinal Matrix	brain
6	chr12:118501200-118540800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:118501200-118541000	Weak transcription	Aorta	Aorta
8	chr12:118501600-118540400	Weak transcription	NHLF	lung
9	chr12:118502200-118540800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:118502200-118540800	Weak transcription	Brain Anterior Caudate	brain
11	chr12:118514600-118540400	Weak transcription	Fetal Heart	heart
12	chr12:118515800-118540800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:118515800-118540800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:118517600-118540800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:118517600-118540800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:118518600-118540800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:118519000-118540400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:118519000-118540800	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:118519400-118540600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:118519600-118540200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:118520200-118540600	Weak transcription	Liver	Liver
22	chr12:118528000-118540400	Weak transcription	Dnd41	blood
23	chr12:118528800-118540400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:118528800-118540800	Weak transcription	Lung	lung
25	chr12:118529000-118540600	Weak transcription	Spleen	Spleen
26	chr12:118529600-118540800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:118530400-118540400	Weak transcription	Fetal Lung	lung
28	chr12:118532000-118540400	Weak transcription	Ovary	ovary
29	chr12:118532600-118540800	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:118533600-118540200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:118533600-118540400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:118533600-118540400	Weak transcription	Fetal Stomach	stomach
33	chr12:118536400-118540200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr12:118536400-118540600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:118536600-118540800	Weak transcription	Right Atrium	heart
36	chr12:118537000-118541000	Weak transcription	Gastric	stomach
37	chr12:118537000-118541000	Weak transcription	Small Intestine	intestine
38	chr12:118537400-118540800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:118537600-118540400	Weak transcription	Fetal Intestine Small	intestine
40	chr12:118539600-118540200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:118539600-118540200	Enhancers	Psoas Muscle	Psoas
42	chr12:118539600-118540400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:118539600-118540400	Enhancers	Colonic Mucosa	Colon
44	chr12:118539600-118540400	Enhancers	Pancreas	Pancrea
45	chr12:118539600-118540400	Enhancers	HMEC	breast
46	chr12:118539600-118540400	Enhancers	NHEK	skin
47	chr12:118539600-118540800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:118539600-118540800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:118539600-118540800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:118539600-118540800	Enhancers	Placenta	Placenta

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