Variant report

Variant	rs350212
Chromosome Location	chr16:12154378-12154379
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:12153662..12155648-chr16:12157609..12160234,2	K562	blood:
2	chr16:12118417..12120062-chr16:12153867..12156683,2	MCF-7	breast:
3	chr16:12153420..12155815-chr16:12156691..12160234,4	K562	blood:
4	chr16:12065239..12073033-chr16:12152262..12160300,11	MCF-7	breast:
5	chr16:12007438..12010622-chr16:12151469..12154382,3	MCF-7	breast:
6	chr16:11932147..11934951-chr16:12152192..12155016,2	MCF-7	breast:
7	chr16:12151950..12154573-chr16:12160547..12163512,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234719	Chromatin interaction
ENSG00000266163	Chromatin interaction
ENSG00000260488	Chromatin interaction
ENSG00000103342	Chromatin interaction
ENSG00000048471	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1703538	0.83[AFR][1000 genomes]
rs4781178	1.00[MEX][hapmap]
rs56160839	0.86[AFR][1000 genomes]
rs73515684	0.88[AFR][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:100 , 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	chr16:12121400-12155000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:12124400-12156600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:12124800-12155000	Weak transcription	NH-A	brain
5	chr16:12131200-12156600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr16:12131600-12154800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:12132800-12154600	Weak transcription	Hela-S3	cervix
8	chr16:12133800-12156400	Weak transcription	Stomach Mucosa	stomach
9	chr16:12138400-12156800	Weak transcription	Colon Smooth Muscle	Colon
10	chr16:12139400-12172600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:12140800-12154400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr16:12140800-12155000	Weak transcription	Fetal Intestine Small	intestine
13	chr16:12142600-12155400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr16:12142800-12156400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr16:12142800-12159200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr16:12142800-12189200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr16:12143000-12154800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr16:12143000-12156400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr16:12143000-12156400	Weak transcription	NHLF	lung
20	chr16:12143200-12154800	Weak transcription	Brain Germinal Matrix	brain
21	chr16:12144200-12161600	Weak transcription	Dnd41	blood
22	chr16:12144200-12169400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr16:12144600-12156400	Weak transcription	Colonic Mucosa	Colon
24	chr16:12145000-12156400	Weak transcription	HUVEC	blood vessel
25	chr16:12146000-12183400	Weak transcription	Fetal Intestine Large	intestine
26	chr16:12146200-12155800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr16:12146200-12163000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:12146600-12162000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr16:12146800-12156400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:12148000-12183400	Weak transcription	Fetal Lung	lung
31	chr16:12148800-12154600	Weak transcription	Liver	Liver
32	chr16:12148800-12154800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr16:12148800-12156200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:12149000-12154800	Weak transcription	Fetal Brain Female	brain
35	chr16:12149000-12156800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:12149200-12156800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr16:12149800-12172600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr16:12150400-12154600	Weak transcription	Spleen	Spleen
39	chr16:12150800-12154600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr16:12151200-12154800	Weak transcription	Esophagus	oesophagus
41	chr16:12151400-12154600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr16:12151400-12154600	Weak transcription	NHEK	skin
43	chr16:12151400-12154800	Weak transcription	Brain Angular Gyrus	brain
44	chr16:12151400-12154800	Weak transcription	Gastric	stomach
45	chr16:12151400-12154800	Weak transcription	Lung	lung
46	chr16:12151600-12154400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:12151600-12154800	Weak transcription	Brain Anterior Caudate	brain
48	chr16:12152200-12154800	Weak transcription	NHDF-Ad	bronchial
49	chr16:12152200-12156000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr16:12152600-12154400	Enhancers	Fetal Thymus	thymus

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