Variant report

Variant	rs2074314
Chromosome Location	chr11:17411821-17411822
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	YY1	chr11:17410981-17411904	H1-hESC	embryonic stem cell:	n/a	chr11:17411820-17411842 chr11:17411823-17411831 chr11:17411820-17411830 chr11:17411148-17411159 chr11:17411126-17411135 chr11:17411818-17411837
2	CTCF	chr11:17410055-17411834	SK-N-SH	brain:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
3	E2F6	chr11:17410098-17411860	H1-hESC	embryonic stem cell:	n/a	chr11:17410936-17410945 chr11:17410858-17410870

No.	Distal block	Cell Line	Cell type
1	chr11:17373205..17377100-chr11:17409140..17413152,4	K562	blood:
2	chr11:17411217..17412789-chr11:17465893..17468748,2	MCF-7	breast:
3	chr11:17407664..17411994-chr11:17495609..17498712,4	MCF-7	breast:
4	chr11:17405950..17408117-chr11:17411030..17412540,2	K562	blood:
5	chr11:17411046..17413083-chr11:17494986..17496697,2	K562	blood:

Variant related genes	Relation type
KCNJ11	TF binding region
ENSG00000006071	Chromatin interaction
ENSG00000188211	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1002226	0.88[ASW][hapmap];0.85[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10734252	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10832776	0.85[AMR][1000 genomes]
rs10832778	0.84[CEU][hapmap];0.85[AMR][1000 genomes]
rs11024268	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11024271	0.85[AMR][1000 genomes]
rs12146443	0.83[AMR][1000 genomes]
rs1557765	1.00[ASW][hapmap];0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2051772	1.00[ASW][hapmap];0.85[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes]
rs2074310	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2074311	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs214091	1.00[LWK][hapmap]
rs214105	1.00[LWK][hapmap]
rs35271178	0.86[ASN][1000 genomes]
rs4148646	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4439492	0.85[AMR][1000 genomes]
rs5213	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5215	0.88[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5219	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7124355	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs757081	1.00[LWK][hapmap]
rs757110	0.88[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7928810	1.00[ASW][hapmap];0.85[CEU][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv467712	chr11:17393644-17418477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv553583	chr11:17393644-17418477	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv517772	chr11:17401134-17427862	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv897018	chr11:17403639-17417337	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv528959	chr11:17403639-17435214	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv540951	chr11:17404438-17422755	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv540952	chr11:17407913-17422755	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv467713	chr11:17408025-17440473	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv553584	chr11:17408025-17440473	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2074314	NUCB2	Cis_1M	lymphoblastoid	RTeQTL
rs2074314	GTF2H1	cis	cerebellum	SCAN
rs2074314	SAA4	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17405200-17412000	Enhancers	Fetal Brain Male	brain
2	chr11:17410800-17417200	Weak transcription	Gastric	stomach
3	chr11:17411400-17412000	Enhancers	Fetal Thymus	thymus
4	chr11:17411400-17416200	Weak transcription	Brain Anterior Caudate	brain
5	chr11:17411400-17422600	Weak transcription	Right Atrium	heart
6	chr11:17411600-17412000	Enhancers	Primary B cells from peripheral blood	blood
7	chr11:17411600-17412000	Bivalent Enhancer	Fetal Intestine Large	intestine
8	chr11:17411600-17412000	Enhancers	Fetal Intestine Small	intestine
9	chr11:17411600-17412000	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr11:17411600-17412000	Enhancers	Thymus	Thymus
11	chr11:17411600-17415400	Weak transcription	Brain Angular Gyrus	brain
12	chr11:17411800-17412000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:17411800-17412000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:17411800-17412000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
15	chr11:17411800-17412000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:17411800-17412000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:17411800-17412000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr11:17411800-17412000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr11:17411800-17412000	Bivalent Enhancer	HepG2	liver
20	chr11:17411800-17413200	Enhancers	Dnd41	blood
21	chr11:17411800-17413200	Weak transcription	GM12878-XiMat	blood
22	chr11:17411800-17413800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:17411800-17414000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:17411800-17414400	Weak transcription	Spleen	Spleen
25	chr11:17411800-17414600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:17411800-17415200	Weak transcription	Fetal Brain Female	brain
27	chr11:17411800-17416200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:17411800-17417800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:17411800-17419000	Weak transcription	Brain Germinal Matrix	brain
30	chr11:17411800-17426000	Weak transcription	Lung	lung
31	chr11:17411800-17426000	Weak transcription	Pancreas	Pancrea
32	chr11:17411800-17426800	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:17411800-17426800	Weak transcription	Brain Substantia Nigra	brain
34	chr11:17411800-17435000	Weak transcription	H9 Cell Line	embryonic stem cell

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