Variant report

Variant	rs350229
Chromosome Location	chr16:12183686-12183687
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	chr16:12174212..12176270-chr16:12182353..12184871,2	K562	blood:
2	chr16:12183674..12186424-chr16:12186757..12189168,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261293	Chromatin interaction
ENSG00000241641	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1704117	0.82[ASN][1000 genomes]
rs181153	0.82[ASN][1000 genomes]
rs183009	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv977111	chr16:12161129-12220593	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1039492	chr16:12176517-12210702	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv571460	chr16:12181702-12238602	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12142800-12189200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:12156000-12185800	Weak transcription	Brain Germinal Matrix	brain
3	chr16:12156000-12185800	Weak transcription	Fetal Brain Female	brain
4	chr16:12157200-12185800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:12157800-12185800	Weak transcription	HSMMtube	muscle
6	chr16:12167600-12185800	Weak transcription	HSMM	muscle
7	chr16:12175200-12185000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:12178600-12199600	Weak transcription	Aorta	Aorta
9	chr16:12181600-12184200	Enhancers	Placenta	Placenta
10	chr16:12181600-12184400	Enhancers	Primary B cells from cord blood	blood
11	chr16:12181600-12184400	Enhancers	Esophagus	oesophagus
12	chr16:12181800-12184400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr16:12181800-12184400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr16:12182200-12188600	Weak transcription	Fetal Brain Male	brain
15	chr16:12182800-12184200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr16:12182800-12184200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr16:12182800-12184400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr16:12183200-12183800	Enhancers	NHLF	lung
19	chr16:12183200-12184000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:12183200-12184000	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr16:12183200-12184000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr16:12183200-12184000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr16:12183200-12184000	Enhancers	Liver	Liver
24	chr16:12183200-12184000	Flanking Active TSS	NH-A	brain
25	chr16:12183200-12184200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr16:12183200-12184200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:12183200-12184200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr16:12183200-12184200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:12183200-12184200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr16:12183200-12184200	Flanking Active TSS	Thymus	Thymus
31	chr16:12183200-12184400	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr16:12183200-12184400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr16:12183200-12184600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr16:12183200-12184600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr16:12183200-12186200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr16:12183400-12183800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
37	chr16:12183400-12183800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
38	chr16:12183400-12183800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:12183400-12183800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
40	chr16:12183400-12183800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:12183400-12183800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr16:12183400-12183800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr16:12183400-12183800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr16:12183400-12183800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr16:12183400-12183800	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr16:12183400-12183800	Enhancers	Fetal Heart	heart
47	chr16:12183400-12183800	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr16:12183400-12183800	Enhancers	Fetal Lung	lung
49	chr16:12183400-12183800	Enhancers	Pancreas	Pancrea
50	chr16:12183400-12183800	Flanking Active TSS	K562	blood

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