Variant report

Variant	rs8047933
Chromosome Location	chr16:70350269-70350270
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	chr16:70322044..70326489-chr16:70345691..70350355,6	K562	blood:

Variant related genes	Relation type
ENSG00000157349	Chromatin interaction
ENSG00000090861	Chromatin interaction

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

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

rs_ID	r²[population]
rs8062865	0.82[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	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70333800-70350800	Weak transcription	Aorta	Aorta
2	chr16:70333800-70367800	Weak transcription	Small Intestine	intestine
3	chr16:70334000-70350400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr16:70334000-70368400	Weak transcription	Fetal Heart	heart
5	chr16:70334200-70379800	Weak transcription	Stomach Mucosa	stomach
6	chr16:70335400-70350400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr16:70335800-70350400	Weak transcription	Fetal Lung	lung
8	chr16:70335800-70366400	Weak transcription	Psoas Muscle	Psoas
9	chr16:70335800-70374200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr16:70339000-70366400	Weak transcription	K562	blood
11	chr16:70339200-70367600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr16:70339400-70351400	Weak transcription	NH-A	brain
13	chr16:70339400-70359000	Weak transcription	HUVEC	blood vessel
14	chr16:70339400-70365000	Weak transcription	A549	lung
15	chr16:70339400-70367400	Weak transcription	HMEC	breast
16	chr16:70339600-70356800	Weak transcription	GM12878-XiMat	blood
17	chr16:70342200-70357600	Weak transcription	NHLF	lung
18	chr16:70345200-70350600	Weak transcription	Colonic Mucosa	Colon
19	chr16:70345600-70366600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr16:70346200-70352000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr16:70346200-70367600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr16:70346200-70376000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:70346400-70352400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr16:70346400-70369600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr16:70346600-70360400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr16:70347400-70350600	Weak transcription	Fetal Brain Female	brain
27	chr16:70347400-70371000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:70348200-70367800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:70348200-70371000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr16:70348400-70371000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr16:70348600-70352400	Strong transcription	Primary B cells from peripheral blood	blood
32	chr16:70348600-70355800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr16:70348800-70350600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr16:70348800-70351800	Strong transcription	Primary hematopoietic stem cells	blood
35	chr16:70348800-70351800	Strong transcription	Brain Angular Gyrus	brain
36	chr16:70348800-70351800	Strong transcription	Fetal Kidney	kidney
37	chr16:70348800-70352800	Strong transcription	Fetal Thymus	thymus
38	chr16:70348800-70354200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:70348800-70354600	Strong transcription	Placenta	Placenta
40	chr16:70348800-70355600	Strong transcription	Brain Hippocampus Middle	brain
41	chr16:70348800-70359600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr16:70348800-70360400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:70348800-70360400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr16:70348800-70361200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr16:70348800-70361800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr16:70348800-70365200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr16:70348800-70370600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr16:70348800-70371000	Strong transcription	Liver	Liver
49	chr16:70349000-70356200	Weak transcription	Brain Substantia Nigra	brain
50	chr16:70349000-70358600	Strong transcription	Fetal Intestine Small	intestine

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