Variant report

Variant	rs8043940
Chromosome Location	chr16:12007391-12007392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:11886565..11889362-chr16:12006902..12008695,2	K562	blood:
2	chr16:11942158..11945019-chr16:12007276..12009748,2	K562	blood:
3	chr16:11941713..11946689-chr16:12006948..12011249,6	MCF-7	breast:
4	chr16:12006532..12011371-chr16:12068460..12073371,6	K562	blood:
5	chr16:11988764..11995180-chr16:12006980..12012068,9	MCF-7	breast:
6	chr16:11831944..11836692-chr16:12007199..12011492,4	K562	blood:
7	chr16:12006809..12011472-chr16:12069677..12072698,7	MCF-7	breast:
8	chr16:11988100..11996073-chr16:12007143..12011577,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000262420	Chromatin interaction
ENSG00000171490	Chromatin interaction
ENSG00000048471	Chromatin interaction
ENSG00000234719	Chromatin interaction
ENSG00000263307	Chromatin interaction
ENSG00000260488	Chromatin interaction
ENSG00000103342	Chromatin interaction
ENSG00000153066	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs60737746	1.00[AFR][1000 genomes]
rs7196885	1.00[AFR][1000 genomes]
rs73511616	1.00[AFR][1000 genomes]
rs73511650	1.00[AFR][1000 genomes]
rs73511694	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043909	chr16:11839910-12007435	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1735	chr16:11986963-12031597	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv974848	chr16:12005053-12020022	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 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	chr16:11982000-12007400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:11987800-12007600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:11987800-12008400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:11989800-12007400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr16:11990000-12007400	Weak transcription	Lung	lung
6	chr16:11991000-12007400	Weak transcription	Placenta	Placenta
7	chr16:11999800-12008000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr16:12000000-12007400	Weak transcription	HSMMtube	muscle
9	chr16:12000400-12007400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:12002000-12008200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:12003800-12007400	Weak transcription	Aorta	Aorta
12	chr16:12004400-12007400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:12004600-12007400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr16:12005000-12007400	Weak transcription	Fetal Intestine Large	intestine
15	chr16:12005000-12007400	Weak transcription	Pancreas	Pancrea
16	chr16:12005400-12007400	Weak transcription	Fetal Thymus	thymus
17	chr16:12005400-12007400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr16:12005400-12007800	Weak transcription	Ovary	ovary
19	chr16:12006000-12007400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr16:12006000-12007600	Enhancers	Fetal Lung	lung
21	chr16:12006200-12007400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:12006200-12007400	Enhancers	Primary hematopoietic stem cells	blood
23	chr16:12006200-12007400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr16:12006200-12007400	Enhancers	Adipose Nuclei	Adipose
25	chr16:12006200-12007400	Enhancers	Brain Hippocampus Middle	brain
26	chr16:12006200-12007400	Weak transcription	Esophagus	oesophagus
27	chr16:12006200-12007400	Weak transcription	Gastric	stomach
28	chr16:12006200-12007400	Weak transcription	Left Ventricle	heart
29	chr16:12006200-12007400	Enhancers	Right Ventricle	heart
30	chr16:12006200-12007400	Enhancers	Thymus	Thymus
31	chr16:12006200-12007600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr16:12006200-12007600	Enhancers	Fetal Brain Male	brain
33	chr16:12006200-12007600	Enhancers	Fetal Heart	heart
34	chr16:12006200-12007800	Enhancers	Small Intestine	intestine
35	chr16:12006200-12008000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr16:12006200-12008600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr16:12006200-12008600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:12006200-12008600	Transcr. at gene 5' and 3'	K562	blood
39	chr16:12006400-12007400	Enhancers	Brain Anterior Caudate	brain
40	chr16:12006400-12008000	Enhancers	Stomach Mucosa	stomach
41	chr16:12006600-12007400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
42	chr16:12006600-12007400	Enhancers	Brain Angular Gyrus	brain
43	chr16:12006600-12007400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr16:12006600-12007400	Enhancers	Brain Substantia Nigra	brain
45	chr16:12006600-12007400	Enhancers	Fetal Kidney	kidney
46	chr16:12006600-12007400	Flanking Active TSS	HepG2	liver
47	chr16:12006600-12007600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr16:12006600-12008600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:12006600-12010400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr16:12006800-12007400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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