Variant report

Variant	rs7120686
Chromosome Location	chr11:32460227-32460228
allele	C/T
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:1)
LncRNA
region (count:5)
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	POLR2A	chr11:32458391-32461056	H1-neurons	neurons:	n/a	n/a
2	SUZ12	chr11:32453725-32461544	NT2-D1	testis:	n/a	n/a
3	POLR2A	chr11:32458208-32461069	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr11:32459302-32460228	K562	blood:	n/a	n/a
5	SUZ12	chr11:32459091-32461237	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:32459318-32464847	K562	blood:	n/a	n/a
7	CTBP2	chr11:32459296-32460879	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32455134..32460391-chr11:32603988..32611641,10	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF3M-2	chr11:32459475-32461618	ENSG00000183242
2	lnc-EIF3M-2	chr11:32459391-32462950	ENSG00000183242
3	lnc-EIF3M-2	chr11:32459391-32460253	ENSG00000183242
4	lnc-EIF3M-2	chr11:32459391-32461618	NONHSAT018663
5	lnc-EIF3M-2	chr11:32459391-32461620	NR_023920

No data

Variant related genes	Relation type
WT1	TF binding region
ENSG00000149100	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10742277	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11031783	0.92[ASN][1000 genomes]
rs11031784	0.94[ASN][1000 genomes]
rs11031793	0.80[AMR][1000 genomes]
rs11031796	0.83[AMR][1000 genomes]
rs2234580	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2234585	0.81[ASN][1000 genomes]
rs2301250	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2301251	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2301252	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2301253	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2301254	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3809060	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809061	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809062	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3858446	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3858447	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3858448	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3886325	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3930513	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4140413	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4275604	0.87[AFR][1000 genomes]
rs5030171	0.81[ASN][1000 genomes]
rs5030176	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5030178	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5030179	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7103000	0.86[AFR][1000 genomes]
rs7110547	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7126322	0.83[AMR][1000 genomes];0.82[ASN][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	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1044547	chr11:32435753-32465233	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2753303	chr11:32447324-32494924	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1051559	chr11:32447347-32465233	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32456800-32460400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
2	chr11:32457000-32462600	Bivalent/Poised TSS	Fetal Kidney	kidney
3	chr11:32457200-32460600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:32457200-32461000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:32457600-32460800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr11:32458000-32460600	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr11:32458200-32460400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
8	chr11:32458200-32460600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
9	chr11:32458600-32461200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:32458600-32461200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:32458800-32460400	Weak transcription	Pancreas	Pancrea
12	chr11:32459200-32460800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
13	chr11:32459200-32461000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr11:32459200-32461200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
15	chr11:32459400-32460600	Bivalent Enhancer	Brain Hippocampus Middle	brain
16	chr11:32459400-32460800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
17	chr11:32459400-32461000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr11:32459400-32461000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr11:32459600-32460600	Bivalent Enhancer	Left Ventricle	heart
20	chr11:32459600-32461000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:32459600-32461000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
22	chr11:32459600-32461000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr11:32459600-32461000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr11:32459600-32461000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:32459600-32461000	Enhancers	Gastric	stomach
26	chr11:32459600-32461000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
27	chr11:32459600-32461200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:32459600-32461200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:32459600-32461200	Bivalent Enhancer	Adipose Nuclei	Adipose
30	chr11:32459800-32460400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
31	chr11:32459800-32460400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
32	chr11:32459800-32460600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:32459800-32460600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:32459800-32460600	Bivalent Enhancer	Brain Germinal Matrix	brain
35	chr11:32459800-32461000	Bivalent Enhancer	Fetal Heart	heart
36	chr11:32459800-32461400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr11:32460000-32460400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
38	chr11:32460000-32460400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
39	chr11:32460000-32460400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:32460000-32460400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:32460000-32460600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:32460000-32460600	Bivalent Enhancer	Colon Smooth Muscle	Colon
43	chr11:32460000-32460600	Bivalent Enhancer	Fetal Thymus	thymus
44	chr11:32460000-32460600	Weak transcription	Right Atrium	heart
45	chr11:32460000-32460800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:32460000-32460800	Bivalent Enhancer	Brain Anterior Caudate	brain
47	chr11:32460000-32460800	Bivalent Enhancer	Thymus	Thymus
48	chr11:32460000-32461000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr11:32460000-32461000	Bivalent Enhancer	Primary B cells from cord blood	blood
50	chr11:32460200-32460400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell

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