Variant report

Variant	rs564191313
Chromosome Location	chr16:12071904-12071905
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr16:12069635-12072270	IMR90	lung:	n/a	chr16:12070760-12070770
2	POLR2A	chr16:12069350-12071988	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:12069698-12071959	IMR90	lung:	n/a	n/a
4	MTA3	chr16:12071683-12072512	GM12878	blood:	n/a	n/a
5	POLR2A	chr16:12071225-12071969	U87	brain:	n/a	n/a
6	WRNIP1	chr16:12070864-12072578	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:12069293-12072542	GM12891	blood:	n/a	n/a
8	POLR2A	chr16:12071413-12072003	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr16:12071378-12071977	U87	brain:	n/a	n/a
10	TBL1XR1	chr16:12071822-12072529	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:12069746-12071941	MCF10A-Er-Src	breast:	n/a	n/a
12	MXI1	chr16:12069562-12072323	SK-N-SH	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12006809..12011472-chr16:12069677..12072698,7	MCF-7	breast:
2	chr16:12070324..12072776-chr16:12897424..12899893,2	K562	blood:
3	chr16:12058363..12061770-chr16:12069205..12072370,4	MCF-7	breast:
4	chr16:12069629..12072468-chr16:12173207..12175470,2	MCF-7	breast:
5	chr16:12007711..12010113-chr16:12069770..12071913,2	MCF-7	breast:
6	chr16:12068621..12072204-chr16:12129850..12134239,5	MCF-7	breast:
7	chr16:12006532..12011371-chr16:12068460..12073371,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234719	TF binding region
ENSG00000260488	TF binding region
ENSG00000103342	Chromatin interaction
ENSG00000048471	Chromatin interaction
ENSG00000103381	Chromatin interaction
ENSG00000048462	Chromatin interaction
ENSG00000241641	Chromatin interaction
ENSG00000266163	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv482458	chr16:12014925-12145977	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	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
7	nsv527197	chr16:12071341-12073800	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv974757	chr16:12071576-12072076	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12069400-12072000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:12069400-12072200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:12069600-12072000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr16:12069600-12072600	Active TSS	Fetal Kidney	kidney
5	chr16:12069800-12072000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr16:12070000-12072000	Active TSS	Ovary	ovary
7	chr16:12070000-12072400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:12070200-12072000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr16:12070200-12072200	Active TSS	GM12878-XiMat	blood
10	chr16:12070200-12072400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:12070400-12072200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:12070800-12072200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:12070800-12072400	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr16:12070800-12072600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr16:12071000-12072000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:12071000-12072000	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr16:12071000-12072000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr16:12071000-12072000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr16:12071000-12072000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr16:12071000-12072000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:12071000-12072000	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr16:12071000-12072000	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr16:12071000-12072000	Flanking Active TSS	Fetal Brain Female	brain
24	chr16:12071000-12072000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr16:12071000-12072000	Flanking Active TSS	Dnd41	blood
26	chr16:12071000-12072000	Flanking Active TSS	NHEK	skin
27	chr16:12071000-12072600	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr16:12071200-12072000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:12071200-12072000	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr16:12071200-12072000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr16:12071200-12072000	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr16:12071200-12072000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr16:12071200-12072000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr16:12071200-12072000	Flanking Active TSS	Hela-S3	cervix
35	chr16:12071200-12072000	Flanking Active TSS	HMEC	breast
36	chr16:12071200-12072000	Flanking Active TSS	K562	blood
37	chr16:12071200-12072000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr16:12071200-12072200	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr16:12071400-12072000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr16:12071400-12072000	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr16:12071400-12072000	Flanking Active TSS	Fetal Stomach	stomach
42	chr16:12071400-12072000	Enhancers	Small Intestine	intestine
43	chr16:12071400-12072200	Enhancers	Primary T cells fromperipheralblood	blood
44	chr16:12071400-12072200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr16:12071400-12072200	Enhancers	Fetal Brain Male	brain
46	chr16:12071400-12072200	Enhancers	Stomach Mucosa	stomach
47	chr16:12071400-12072400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr16:12071400-12130800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr16:12071600-12072000	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr16:12071600-12072000	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links