Variant report

Variant	rs9922969
Chromosome Location	chr16:70324216-70324217
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr16:70322429-70324241	H1-neurons	neurons:	n/a	chr16:70323144-70323157
2	POLR2A	chr16:70324001-70324568	ECC-1	luminal epithelium:	n/a	n/a
3	CHD1	chr16:70322237-70324310	IMR90	lung:	n/a	n/a
4	POLR2A	chr16:70324050-70324258	K562	blood:	n/a	n/a
5	POLR2A	chr16:70324200-70324318	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:70323975-70324519	K562	blood:	n/a	n/a
7	RFX5	chr16:70322662-70324330	SK-N-SH	brain:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70321381..70324414-chr16:70379252..70382918,7	MCF-7	breast:
2	chr16:70319780..70324322-chr16:70325066..70330067,6	MCF-7	breast:
3	chr16:70321887..70324896-chr16:70556007..70561529,9	K562	blood:
4	chr16:70320811..70326767-chr16:70331299..70339483,12	K562	blood:
5	chr16:70321820..70325241-chr16:70331601..70337689,10	MCF-7	breast:
6	chr16:70318554..70325188-chr16:70378714..70382302,15	K562	blood:
7	chr16:70294294..70296444-chr16:70323407..70325438,2	K562	blood:
8	chr16:70320111..70324850-chr16:70378173..70382680,12	K562	blood:
9	chr16:70321891..70324896-chr16:70556007..70559559,7	K562	blood:
10	chr16:70321807..70326700-chr16:70327142..70336316,14	MCF-7	breast:
11	chr16:70323174..70325027-chr16:70556490..70558440,2	MCF-7	breast:
12	chr16:70321558..70325394-chr16:70325539..70331219,12	K562	blood:
13	chr16:70298741..70301676-chr16:70322004..70324740,3	MCF-7	breast:
14	chr16:70294294..70298794-chr16:70322473..70325438,5	K562	blood:

No data

Variant related genes	Relation type
DDX19B	TF binding region
AARS	TF binding region
ENSG00000103051	Chromatin interaction
ENSG00000260537	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000265230	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000168872	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11863394	1.00[EUR][1000 genomes]
rs13330945	1.00[EUR][1000 genomes]
rs13337437	0.87[AMR][1000 genomes]
rs13337689	1.00[EUR][1000 genomes]
rs13338441	1.00[EUR][1000 genomes]
rs13339561	1.00[EUR][1000 genomes]
rs13339593	1.00[EUR][1000 genomes]
rs13339643	1.00[EUR][1000 genomes]
rs17878662	1.00[EUR][1000 genomes]
rs17879275	1.00[EUR][1000 genomes]
rs17881316	1.00[EUR][1000 genomes]
rs17886111	1.00[EUR][1000 genomes]
rs60575688	1.00[EUR][1000 genomes]
rs7188297	1.00[EUR][1000 genomes]
rs7188474	1.00[EUR][1000 genomes]
rs7188808	1.00[EUR][1000 genomes]
rs7192936	1.00[EUR][1000 genomes]
rs7193598	0.87[AMR][1000 genomes]
rs7196773	1.00[EUR][1000 genomes]
rs7199312	1.00[EUR][1000 genomes]
rs7202133	1.00[EUR][1000 genomes]
rs8047189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8059200	1.00[EUR][1000 genomes]
rs8061243	1.00[EUR][1000 genomes]
rs8061431	1.00[EUR][1000 genomes]
rs8062414	1.00[EUR][1000 genomes]
rs8062794	1.00[EUR][1000 genomes]
rs9921696	1.00[EUR][1000 genomes]
rs9923656	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9925510	1.00[EUR][1000 genomes]
rs9926435	1.00[EUR][1000 genomes]
rs9927480	0.87[AMR][1000 genomes]
rs9929182	1.00[EUR][1000 genomes]
rs9931779	0.87[AMR][1000 genomes]
rs9933510	1.00[EUR][1000 genomes]
rs9934707	0.87[AMR][1000 genomes]
rs9940592	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9940654	1.00[AMR][1000 genomes];1.00[EUR][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	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	nsv1061286	chr16:70253809-70331407	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv960356	chr16:70318585-70339325	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70321600-70324400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:70321600-70324600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:70321800-70324600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:70321800-70324600	Active TSS	GM12878-XiMat	blood
5	chr16:70323800-70324400	Flanking Active TSS	Dnd41	blood
6	chr16:70324000-70324400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr16:70324000-70324400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr16:70324000-70324400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:70324000-70324400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr16:70324000-70324400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr16:70324000-70324400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:70324000-70324400	Enhancers	Fetal Muscle Trunk	muscle
13	chr16:70324000-70324400	Enhancers	Left Ventricle	heart
14	chr16:70324000-70324400	Enhancers	HUVEC	blood vessel
15	chr16:70324000-70324600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:70324000-70324600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:70324000-70332400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr16:70324000-70332600	Weak transcription	NHEK	skin
19	chr16:70324000-70332800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr16:70324200-70324400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:70324200-70324800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr16:70324200-70325200	Enhancers	K562	blood
23	chr16:70324200-70329000	Weak transcription	HepG2	liver
24	chr16:70324200-70332400	Weak transcription	Colonic Mucosa	Colon
25	chr16:70324200-70332400	Weak transcription	Fetal Muscle Leg	muscle
26	chr16:70324200-70332600	Weak transcription	Placenta	Placenta

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