Variant report

Variant	rs11080351
Chromosome Location	chr17:33824903-33824904
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr17:33824872-33825410	GM12878	blood:	n/a	chr17:33825193-33825202 chr17:33825126-33825138

Variant related genes	Relation type
ENSG00000267369	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11080356	1.00[CHB][hapmap]
rs11650473	1.00[CHB][hapmap]
rs11654381	1.00[ASW][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs17548596	1.00[ASW][hapmap]
rs17550632	1.00[CHB][hapmap]
rs17550716	1.00[CHB][hapmap]
rs225244	1.00[CHB][hapmap]
rs225246	1.00[CHB][hapmap]
rs225268	1.00[CHB][hapmap]
rs225276	1.00[CHB][hapmap]
rs225278	1.00[CHB][hapmap]
rs225279	1.00[CHB][hapmap]
rs226089	1.00[CHB][hapmap]
rs2376177	1.00[CHB][hapmap]
rs34254270	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34410583	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4796098	1.00[CHB][hapmap]
rs7211724	1.00[CHB][hapmap]
rs72828013	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8070030	1.00[CHB][hapmap]

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	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv574741	chr17:33552275-33827134	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11080351	ZNF830	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33815800-33826000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:33816000-33826400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr17:33822200-33826600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:33823000-33826200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr17:33823000-33830400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr17:33823400-33825600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr17:33823400-33828200	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr17:33823400-33835600	Weak transcription	GM12878-XiMat	blood
9	chr17:33823800-33828600	Weak transcription	Pancreas	Pancrea
10	chr17:33824200-33825000	Weak transcription	Dnd41	blood
11	chr17:33824200-33825400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr17:33824200-33825600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:33824200-33826000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr17:33824200-33827200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr17:33824200-33834800	Weak transcription	Spleen	Spleen
16	chr17:33824400-33825000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr17:33824400-33825200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr17:33824400-33827600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr17:33824600-33825000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
20	chr17:33824600-33825200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
21	chr17:33824600-33825200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr17:33824600-33825200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr17:33824600-33825800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
24	chr17:33824800-33825000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
25	chr17:33824800-33825000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
26	chr17:33824800-33825000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
27	chr17:33824800-33825000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:33824800-33825000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
29	chr17:33824800-33825200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
30	chr17:33824800-33825600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
31	chr17:33824800-33825600	Active TSS	Right Atrium	heart
32	chr17:33824800-33825600	Bivalent Enhancer	HUVEC	blood vessel
33	chr17:33824800-33826200	Bivalent Enhancer	Fetal Thymus	thymus
34	chr17:33824800-33826800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
35	chr17:33824800-33829000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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