Variant report

Variant	rs3809061
Chromosome Location	chr11:32459065-32459066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 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

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:32459057-32459107	T-47D	breast:	n/a
2	chr11:32459057-32459107	AG09309	skin:	n/a
3	chr11:32459057-32459107	SK-N-MC	brain:	n/a
4	chr11:32459057-32459107	RPTEC	kidney:	n/a
5	chr11:32459057-32459107	AG10803	skin:	n/a
6	chr11:32459057-32459107	HRCEpiC	kidney:	n/a
7	chr11:32459057-32459107	HCT-116	colon:	n/a
8	chr11:32459057-32459107	MCF-7	breast:	n/a
9	chr11:32459057-32459107	HepG2	liver:	n/a
10	chr11:32459057-32459107	HAEpiC	amniotic membrane:	n/a
11	chr11:32459057-32459107	GM06990	blood:	n/a
12	chr11:32459057-32459107	HEEpiC	esophagus:	n/a
13	chr11:32459057-32459107	ovcar-3	ovarian:	n/a
14	chr11:32459057-32459107	PANC-1	pancreas:	n/a
15	chr11:32459057-32459107	HCF	heart:	n/a
16	chr11:32459057-32459107	GM12892	blood:	n/a
17	chr11:32459057-32459107	HRE	kidney:	n/a
18	chr11:32459057-32459107	Hela-S3	cervix:	n/a
19	chr11:32459057-32459107	AG04450	lung:	fetal
20	chr11:32459057-32459107	HPAEpiC	pulmonary alveolar:	n/a
21	chr11:32459057-32459107	SKMC	muscle:	n/a
22	chr11:32459057-32459107	HCM	heart:	n/a
23	chr11:32459057-32459107	AG09319	gingival:	n/a
24	chr11:32459057-32459107	HRPEpiC	eye:	n/a
25	chr11:32459057-32459107	Caco-2	colon:	n/a
26	chr11:32459057-32459107	HIPEpiC	eye:	n/a
27	chr11:32459057-32459107	PrEC	prostate:	n/a
28	chr11:32459057-32459107	AG04449	skin:	fetal
29	chr11:32459057-32459107	H1-hESC	embryonic stem cell:	embryo
30	chr11:32459057-32459107	K562	blood:	n/a
31	chr11:32459057-32459107	SK-N-SH_RA	brain:	n/a
32	chr11:32459057-32459107	NT2-D1	testis:	n/a
33	chr11:32459057-32459107	NHDF-neo	bronchial:	n/a
34	chr11:32459057-32459107	NB4	blood:	n/a
35	chr11:32459057-32459107	HMEC	breast:	n/a
36	chr11:32459057-32459107	IMR90	lung:	fetal
37	chr11:32459057-32459107	ECC-1	luminal epithelium:	n/a
38	chr11:32459057-32459107	GM12891	blood:	n/a
39	chr11:32459057-32459107	PFSK-1	brain:	n/a
40	chr11:32459057-32459107	SAEC	small airway:	n/a
41	chr11:32459057-32459107	Hepatocyte	liver:	n/a
42	chr11:32459057-32459107	CMK	blood:	n/a
43	chr11:32459057-32459107	MCF10A-Er-Src	breast:	n/a
44	chr11:32459057-32459107	NHBE	bronchial:	n/a
45	chr11:32459057-32459107	BJ	skin:	n/a
46	chr11:32459057-32459107	HL-60	blood:	n/a
47	chr11:32459057-32459107	ProgFib	skin:	n/a
48	chr11:32459057-32459107	HEK293	kidney:	embryo
49	chr11:32459057-32459107	AoSMC	blood vessel:	n/a
50	chr11:32459057-32459107	NH-A	brain:	n/a

(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:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF3M-2	chr11:32457585-32460136	NONHSAT018664

No data

Variant related genes	Relation type
WT1	TF binding region
WT1-AS	TF binding region
WT1-AS	CpG island
WT1	CpG island
ENSG00000149100	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10742277	0.95[CEU][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10835917	0.83[CHD][hapmap];0.80[TSI][hapmap]
rs11031783	0.92[ASN][1000 genomes]
rs11031784	0.92[ASN][1000 genomes]
rs2234580	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2234585	0.81[ASN][1000 genomes]
rs2301250	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301251	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301252	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301253	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2301254	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858445	0.82[CHD][hapmap]
rs3858446	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3858447	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3858448	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3858449	0.81[CHD][hapmap]
rs3858454	0.92[CHD][hapmap];0.81[GIH][hapmap]
rs3886325	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3930513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4140413	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030141	0.81[CHD][hapmap]
rs5030171	0.81[ASN][1000 genomes]
rs5030176	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5030178	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5030179	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7110547	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7120686	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7126322	0.80[ASN][1000 genomes]
rs7946086	0.81[CEU][hapmap];0.86[GIH][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3809061	WT1AS	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32453400-32459600	Active TSS	Right Atrium	heart
2	chr11:32454600-32459800	Active TSS	Ovary	ovary
3	chr11:32455000-32459400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
4	chr11:32456800-32459600	Active TSS	Right Ventricle	heart
5	chr11:32456800-32460400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
6	chr11:32457000-32462600	Bivalent/Poised TSS	Fetal Kidney	kidney
7	chr11:32457200-32460600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:32457200-32461000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:32457400-32459400	Bivalent Enhancer	Brain Germinal Matrix	brain
10	chr11:32457400-32460000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:32457600-32459400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:32457600-32460800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr11:32458000-32459400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:32458000-32459400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:32458000-32459400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:32458000-32459400	Enhancers	Spleen	Spleen
17	chr11:32458000-32460600	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr11:32458200-32459400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:32458200-32459400	Bivalent Enhancer	Fetal Thymus	thymus
20	chr11:32458200-32459800	Bivalent Enhancer	Fetal Stomach	stomach
21	chr11:32458200-32460400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
22	chr11:32458200-32460600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
23	chr11:32458400-32459200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
24	chr11:32458600-32459400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr11:32458600-32459600	Weak transcription	Gastric	stomach
26	chr11:32458600-32461200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:32458600-32461200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:32458800-32460400	Weak transcription	Pancreas	Pancrea
29	chr11:32459000-32459200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
30	chr11:32459000-32459200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
31	chr11:32459000-32459400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:32459000-32459600	Bivalent Enhancer	Primary T cells from cord blood	blood
33	chr11:32459000-32459800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr11:32459000-32459800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
35	chr11:32459000-32460000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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