Variant report

Variant	rs33988687
Chromosome Location	chr11:65822016-65822017
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:5)
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	POLR2A	chr11:65821849-65822035	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:65821919-65822035	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:65821968-65822322	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr11:65821921-65822340	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:65821993-65822357	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:65821954-65822365	K562	blood:	n/a	n/a
7	POLR2A	chr11:65821994-65822182	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:65816864..65823380-chr11:65832037..65840391,16	MCF-7	breast:
2	chr11:65815354..65817680-chr11:65821630..65823726,2	K562	blood:
3	chr11:65767679..65771369-chr11:65818165..65822112,6	MCF-7	breast:
4	chr11:65766270..65769793-chr11:65817988..65822487,7	MCF-7	breast:
5	chr11:65429132..65431872-chr11:65817636..65822281,4	MCF-7	breast:

No data

Variant related genes	Relation type
SF3B2	TF binding region
ENSG00000175376	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175229	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1049872	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12416952	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12416953	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12419425	0.81[AMR][1000 genomes]
rs12421022	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12803276	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17147325	0.83[AMR][1000 genomes]
rs1893316	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2000672	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2452680	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34073119	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34114713	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35611816	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs477280	0.83[EUR][1000 genomes]
rs491618	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930333	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930337	0.86[AMR][1000 genomes]
rs4930340	0.82[AMR][1000 genomes]
rs503156	0.84[EUR][1000 genomes]
rs535752	0.83[EUR][1000 genomes]
rs547404	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs557799	0.84[EUR][1000 genomes]
rs55944083	0.83[AMR][1000 genomes]
rs56269595	0.83[AMR][1000 genomes]
rs570887	0.83[EUR][1000 genomes]
rs574153	0.84[EUR][1000 genomes]
rs61895579	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs873491	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
3	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
4	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv897770	chr11:65803750-65824472	Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65820800-65822200	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr11:65820800-65822200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:65820800-65822600	Weak transcription	Aorta	Aorta
4	chr11:65820800-65827600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:65821000-65822200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:65821000-65822200	Weak transcription	Fetal Kidney	kidney
7	chr11:65821000-65822200	Weak transcription	Small Intestine	intestine
8	chr11:65821000-65822800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:65821000-65823200	Genic enhancers	Liver	Liver
10	chr11:65821000-65825000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:65821000-65835600	Weak transcription	Right Atrium	heart
12	chr11:65821000-65836600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:65821000-65836600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:65821200-65822200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:65821200-65822200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:65821200-65822400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:65821200-65822400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
18	chr11:65821200-65822800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr11:65821200-65822800	Genic enhancers	Dnd41	blood
20	chr11:65821200-65823200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:65821200-65823600	Genic enhancers	Osteobl	bone
22	chr11:65821200-65824000	Weak transcription	Psoas Muscle	Psoas
23	chr11:65821200-65824600	Genic enhancers	Adipose Nuclei	Adipose
24	chr11:65821200-65828200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:65821200-65829000	Weak transcription	Fetal Heart	heart
26	chr11:65821200-65832000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:65821200-65832200	Strong transcription	Fetal Muscle Leg	muscle
28	chr11:65821200-65835400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:65821200-65835600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:65821200-65836000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:65821200-65836000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:65821200-65836000	Strong transcription	Fetal Intestine Large	intestine
33	chr11:65821200-65836000	Strong transcription	NHLF	lung
34	chr11:65821200-65836200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:65821200-65836600	Strong transcription	Fetal Stomach	stomach
36	chr11:65821400-65822200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:65821400-65822200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:65821400-65822200	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:65821400-65822200	Genic enhancers	GM12878-XiMat	blood
40	chr11:65821400-65822600	Weak transcription	Brain Angular Gyrus	brain
41	chr11:65821400-65822800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:65821400-65823000	Genic enhancers	A549	lung
43	chr11:65821400-65824200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:65821400-65825600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:65821400-65826200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr11:65821400-65826400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:65821400-65827800	Weak transcription	Fetal Brain Male	brain
48	chr11:65821400-65830400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:65821400-65831400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:65821400-65831800	Strong transcription	Fetal Intestine Small	intestine

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