Variant report

Variant	rs16934489
Chromosome Location	chr9:116272018-116272019
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	chr9:116266673..116268192-chr9:116271422..116274282,2	K562	blood:

Variant related genes	Relation type
ENSG00000138835	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10981818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10981833	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12683088	1.00[CEU][hapmap];0.83[JPT][hapmap];1.00[AFR][1000 genomes]
rs4979250	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60806561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs884992	0.87[CHB][hapmap];0.94[JPT][hapmap]

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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv466508	chr9:116244982-116362738	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv615215	chr9:116244982-116362738	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116251600-116283800	Weak transcription	Hela-S3	cervix
2	chr9:116252400-116273200	Weak transcription	Pancreas	Pancrea
3	chr9:116255600-116275800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:116259200-116274000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:116259200-116274200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:116262800-116274200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr9:116264000-116291200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr9:116264800-116298400	Weak transcription	Brain Germinal Matrix	brain
9	chr9:116266600-116274200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:116266800-116273600	Enhancers	Right Atrium	heart
11	chr9:116266800-116281600	Strong transcription	Fetal Stomach	stomach
12	chr9:116267000-116272200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:116267400-116274800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr9:116268000-116275000	Genic enhancers	HUVEC	blood vessel
15	chr9:116268400-116277200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr9:116268600-116278600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:116269000-116273200	Weak transcription	Psoas Muscle	Psoas
18	chr9:116269000-116288600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:116269200-116273200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr9:116269400-116272200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
21	chr9:116269400-116273600	Genic enhancers	HepG2	liver
22	chr9:116269400-116288200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr9:116269400-116303000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr9:116269600-116276600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:116269600-116298400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr9:116269800-116273200	Weak transcription	Fetal Brain Male	brain
27	chr9:116269800-116276400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:116270000-116274000	Genic enhancers	Left Ventricle	heart
29	chr9:116270000-116275000	Enhancers	Stomach Mucosa	stomach
30	chr9:116270400-116289200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:116270400-116290600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:116270600-116272200	Enhancers	Placenta	Placenta
33	chr9:116270600-116274400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:116270600-116283800	Weak transcription	Colon Smooth Muscle	Colon
35	chr9:116270600-116283800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr9:116270800-116272200	Active TSS	Rectal Smooth Muscle	rectum
37	chr9:116270800-116272200	Enhancers	NHLF	lung
38	chr9:116270800-116272400	Strong transcription	A549	lung
39	chr9:116270800-116273200	Weak transcription	Fetal Thymus	thymus
40	chr9:116270800-116273400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr9:116270800-116274200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr9:116270800-116274200	Enhancers	Fetal Heart	heart
43	chr9:116270800-116276000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:116270800-116276000	Weak transcription	Fetal Brain Female	brain
45	chr9:116270800-116285200	Weak transcription	Brain Substantia Nigra	brain
46	chr9:116270800-116285800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr9:116271000-116273200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr9:116271000-116273200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr9:116271000-116273200	Weak transcription	Brain Anterior Caudate	brain
50	chr9:116271000-116273200	Weak transcription	Brain Hippocampus Middle	brain

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