Variant report

Variant	rs12920944
Chromosome Location	chr16:12156507-12156508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:12118417..12120062-chr16:12153867..12156683,2	MCF-7	breast:
2	chr16:12065239..12073033-chr16:12152262..12160300,11	MCF-7	breast:
3	chr16:12010691..12013114-chr16:12155698..12158691,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000048471	Chromatin interaction
ENSG00000234719	Chromatin interaction
ENSG00000260488	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs34126591	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]

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	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv977905	chr16:12146787-12159206	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12117400-12183400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr16:12124400-12156600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:12131200-12156600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr16:12138400-12156800	Weak transcription	Colon Smooth Muscle	Colon
5	chr16:12139400-12172600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr16:12142800-12159200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr16:12142800-12189200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr16:12144200-12161600	Weak transcription	Dnd41	blood
9	chr16:12144200-12169400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr16:12146000-12183400	Weak transcription	Fetal Intestine Large	intestine
11	chr16:12146200-12163000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:12146600-12162000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr16:12148000-12183400	Weak transcription	Fetal Lung	lung
14	chr16:12149000-12156800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:12149200-12156800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:12149800-12172600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr16:12153400-12156600	Weak transcription	Psoas Muscle	Psoas
18	chr16:12153400-12177200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr16:12153800-12157800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr16:12153800-12168800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr16:12154000-12157000	Weak transcription	Right Ventricle	heart
22	chr16:12154200-12156600	Weak transcription	Fetal Kidney	kidney
23	chr16:12154200-12157800	Genic enhancers	Primary B cells from peripheral blood	blood
24	chr16:12154600-12156600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr16:12154800-12157200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:12154800-12157600	Enhancers	Esophagus	oesophagus
27	chr16:12154800-12157600	Enhancers	NHDF-Ad	bronchial
28	chr16:12154800-12158600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:12155000-12157200	Enhancers	HMEC	breast
30	chr16:12155000-12157200	Enhancers	NH-A	brain
31	chr16:12155000-12160200	Strong transcription	Primary B cells from cord blood	blood
32	chr16:12155400-12157200	Enhancers	HSMM	muscle
33	chr16:12155400-12161600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr16:12155400-12163200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr16:12155400-12172400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr16:12155400-12172600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr16:12155600-12156600	Weak transcription	Brain Angular Gyrus	brain
38	chr16:12155600-12156800	Weak transcription	Gastric	stomach
39	chr16:12155600-12157000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr16:12155600-12157600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr16:12155600-12157800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:12155600-12157800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr16:12155600-12158200	Weak transcription	Pancreas	Pancrea
44	chr16:12155600-12161600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr16:12155600-12172400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr16:12155600-12172600	Weak transcription	Fetal Intestine Small	intestine
47	chr16:12155800-12156600	Weak transcription	Brain Hippocampus Middle	brain
48	chr16:12155800-12156800	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr16:12155800-12157000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr16:12155800-12158000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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