Variant report

Variant	rs10845553
Chromosome Location	chr12:12629542-12629543
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	chr12:12625312..12627407-chr12:12628734..12630245,2	MCF-7	breast:
2	chr12:12627656..12629793-chr12:12641466..12644358,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DUSP16-1	chr12:12627157-12629731	NONHSAT026975

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10845554	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10845557	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10845562	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10845565	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11054923	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11054925	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11054926	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11054935	0.83[ASN][1000 genomes]
rs11609905	0.83[ASN][1000 genomes]
rs11612508	0.83[ASN][1000 genomes]
rs12369319	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12424448	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12819116	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17312926	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17379216	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2287206	0.82[EUR][1000 genomes]
rs2417191	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs736107	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs747726	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs888197	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12596000-12629800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:12603800-12639200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:12608400-12629600	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:12610800-12658000	Weak transcription	NHDF-Ad	bronchial
5	chr12:12616400-12629800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:12618400-12642200	Weak transcription	Stomach Mucosa	stomach
7	chr12:12618800-12629800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:12619000-12634000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:12621000-12630000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:12621400-12636000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:12621400-12645400	Weak transcription	Small Intestine	intestine
12	chr12:12621600-12635800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:12621600-12646000	Weak transcription	Psoas Muscle	Psoas
14	chr12:12621600-12646200	Weak transcription	Brain Germinal Matrix	brain
15	chr12:12621800-12634000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:12622600-12653800	Weak transcription	Fetal Heart	heart
17	chr12:12622800-12629800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:12624000-12638000	Weak transcription	HMEC	breast
19	chr12:12624400-12632800	Weak transcription	Primary B cells from cord blood	blood
20	chr12:12624600-12630000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:12625200-12634000	Strong transcription	Fetal Intestine Small	intestine
22	chr12:12626000-12635800	Strong transcription	Fetal Intestine Large	intestine
23	chr12:12626200-12634600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:12626400-12639000	Strong transcription	Placenta	Placenta
25	chr12:12626600-12631800	Genic enhancers	Brain Anterior Caudate	brain
26	chr12:12626600-12634400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:12626600-12636600	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:12626600-12636800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:12626600-12639200	Strong transcription	Liver	Liver
30	chr12:12626800-12630000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:12626800-12630800	Strong transcription	Colonic Mucosa	Colon
32	chr12:12626800-12633000	Strong transcription	A549	lung
33	chr12:12626800-12633600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:12626800-12640400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:12626800-12653600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:12627000-12630800	Genic enhancers	Fetal Muscle Leg	muscle
37	chr12:12627000-12635800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:12627000-12636000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:12627200-12630800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:12627200-12634400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:12627200-12635000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr12:12627200-12636800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:12627400-12630400	Enhancers	Brain Angular Gyrus	brain
44	chr12:12627400-12633200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:12627400-12633400	Strong transcription	Lung	lung
46	chr12:12627400-12633600	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:12627400-12634600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:12627400-12636600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:12627400-12639200	Strong transcription	HepG2	liver
50	chr12:12627400-12640000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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