Variant report

Variant	rs11237200
Chromosome Location	chr11:77186002-77186003
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	CEBPB	chr11:77185224-77186054	HepG2	liver:	n/a	n/a
2	RCOR1	chr11:77185266-77186011	IMR90	lung:	n/a	n/a
3	CEBPB	chr11:77185213-77186028	IMR90	lung:	n/a	n/a
4	CEBPB	chr11:77185225-77186103	A549	lung:	n/a	n/a
5	JUND	chr11:77184808-77186005	GM12878	blood:	n/a	chr11:77185296-77185305 chr11:77185301-77185310 chr11:77185446-77185455 chr11:77185361-77185375
6	JUN	chr11:77184604-77186094	K562	blood:	n/a	chr11:77185296-77185305 chr11:77185301-77185310 chr11:77185446-77185455 chr11:77185445-77185458 chr11:77185393-77185406 chr11:77185361-77185375
7	CEBPB	chr11:77185039-77186061	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUND	chr11:77183312-77186257	SK-N-SH	brain:	n/a	chr11:77185296-77185305 chr11:77184435-77184444 chr11:77185301-77185310 chr11:77183441-77183450 chr11:77184315-77184324 chr11:77185446-77185455 chr11:77185361-77185375

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77120907..77124363-chr11:77182142..77186268,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AQP11-4	chr11:77184416-77188075	NONHSAT023216

Variant related genes	Relation type
PAK1	TF binding region
ENSG00000149269	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1037452	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10501425	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10899372	0.84[ASN][1000 genomes]
rs10899373	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10899377	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11237190	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11237198	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11820118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11828786	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12223138	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12420360	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12421190	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1453341	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17135670	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17135689	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2154754	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs2467481	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2602460	0.83[ASN][1000 genomes]
rs2602461	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2602462	0.85[ASN][1000 genomes]
rs2602471	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes]
rs2602473	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2602474	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2602475	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2602481	0.89[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap]
rs2602482	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs2725829	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.80[ASN][1000 genomes]
rs2725834	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2729749	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2729750	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2729751	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2729752	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2729756	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2729757	0.89[ASN][1000 genomes]
rs2729763	0.90[AMR][1000 genomes]
rs2729775	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2844327	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2844335	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2852381	0.83[ASN][1000 genomes]
rs2852383	0.83[ASN][1000 genomes]
rs2852388	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2852389	0.88[ASN][1000 genomes]
rs2852390	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[ASN][1000 genomes]
rs2853084	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2853085	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2853089	1.00[CEU][hapmap]
rs2853091	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2853095	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2853098	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2888377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4092275	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944159	0.86[AMR][1000 genomes]
rs4944160	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs503406	0.82[JPT][hapmap]
rs57305199	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs57440754	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6592721	0.88[ASN][1000 genomes]
rs7105662	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7112264	0.89[ASN][1000 genomes]
rs724369	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs733358	0.93[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap]
rs7944289	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs876319	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes]
rs896841	0.86[AMR][1000 genomes]
rs947809	0.95[ASN][1000 genomes]
rs947810	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3330993	chr11:77183854-77186152	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77183400-77186200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:77183600-77186200	Active TSS	Duodenum Mucosa	Duodenum
3	chr11:77183600-77186400	Active TSS	Fetal Kidney	kidney
4	chr11:77183800-77186200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:77183800-77186400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:77185400-77186400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr11:77185400-77186400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr11:77185600-77186200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr11:77185800-77186200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:77185800-77187400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:77185800-77187600	Enhancers	Placenta	Placenta
12	chr11:77185800-77190200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:77185800-77190200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:77186000-77186200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:77186000-77186200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr11:77186000-77186200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:77186000-77186200	Active TSS	Fetal Intestine Large	intestine
18	chr11:77186000-77186200	Active TSS	Monocytes-CD14+_RO01746	blood
19	chr11:77186000-77186400	Enhancers	Primary hematopoietic stem cells	blood
20	chr11:77186000-77186400	Enhancers	Fetal Brain Female	brain
21	chr11:77186000-77186600	Enhancers	HepG2	liver
22	chr11:77186000-77187200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:77186000-77187200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:77186000-77187200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:77186000-77187400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:77186000-77187800	Enhancers	Fetal Intestine Small	intestine
27	chr11:77186000-77190200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:77186000-77190200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:77186000-77190200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:77186000-77190200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:77186000-77190200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:77186000-77190800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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