Variant report

Variant	rs61890478
Chromosome Location	chr11:67887258-67887259
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67887068-67887436	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:67886828-67890249	HepG2	liver:	n/a	n/a
3	YY1	chr11:67887099-67887615	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:67885138-67888200	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67772162..67773973-chr11:67887199..67889790,2	K562	blood:
2	chr11:67797558..67799338-chr11:67885991..67888361,2	K562	blood:
3	chr11:67796973..67799745-chr11:67886868..67889859,3	MCF-7	breast:
4	chr11:67887256..67890230-chr11:67980200..67982109,4	MCF-7	breast:
5	chr11:67876263..67879090-chr11:67886261..67888114,2	K562	blood:
6	chr11:67848312..67851190-chr11:67885750..67887759,2	MCF-7	breast:
7	chr1:234744728..234746900-chr11:67886819..67889133,2	MCF-7	breast:
8	chr11:67879272..67883726-chr11:67883883..67887587,4	MCF-7	breast:
9	chr11:67886377..67890473-chr11:67979925..67982167,7	K562	blood:
10	chr11:67805173..67809189-chr11:67886289..67889765,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255236	TF binding region
ENSG00000110057	Chromatin interaction
ENSG00000168264	Chromatin interaction
ENSG00000255306	Chromatin interaction
ENSG00000110721	Chromatin interaction
ENSG00000110066	Chromatin interaction
ENSG00000110719	Chromatin interaction
ENSG00000110717	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10791956	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10791957	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10791959	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10896293	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896295	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11228129	0.86[ASN][1000 genomes]
rs11228131	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11228133	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11228136	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11228137	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11228145	0.89[EUR][1000 genomes]
rs11535788	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11824199	0.82[ASN][1000 genomes]
rs2457179	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2457180	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2511437	0.85[ASN][1000 genomes]
rs2511469	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2511472	0.89[EUR][1000 genomes]
rs2511475	0.84[AMR][1000 genomes]
rs2512608	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2512611	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2512612	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2512623	0.89[EUR][1000 genomes]
rs2512624	0.83[AMR][1000 genomes]
rs3819255	0.82[ASN][1000 genomes]
rs3935460	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4073551	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4420277	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4930227	0.86[ASN][1000 genomes]
rs4930557	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6591331	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6591333	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7104982	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7123183	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7123668	0.93[EUR][1000 genomes]
rs7124058	0.89[EUR][1000 genomes]
rs71480230	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7925022	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7925423	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7928739	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7940113	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7940217	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7940501	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7944372	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][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	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	esv2757450	chr11:67472905-67891289	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
3	esv2759835	chr11:67472905-67891289	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
4	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
5	nsv371	chr11:67881973-67891493	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	esv3334494	chr11:67887076-67890174	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	esv3402270	chr11:67887201-67889749	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67849400-67887400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:67868400-67887400	Weak transcription	Primary T cells from cord blood	blood
3	chr11:67875400-67888200	Weak transcription	Spleen	Spleen
4	chr11:67878800-67887800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:67881800-67887600	Weak transcription	HMEC	breast
6	chr11:67882400-67887400	Weak transcription	Small Intestine	intestine
7	chr11:67883000-67887800	Weak transcription	Aorta	Aorta
8	chr11:67883600-67887400	Enhancers	Ovary	ovary
9	chr11:67884000-67887400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr11:67884200-67887800	Weak transcription	Esophagus	oesophagus
11	chr11:67884400-67888000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr11:67884600-67887600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr11:67885400-67887400	Enhancers	Fetal Muscle Leg	muscle
14	chr11:67885400-67887400	Enhancers	A549	lung
15	chr11:67885400-67887600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:67885400-67887800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:67885600-67887600	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr11:67885600-67887800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:67885800-67887400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:67885800-67889200	Active TSS	Fetal Intestine Large	intestine
21	chr11:67886000-67887400	Weak transcription	Placenta	Placenta
22	chr11:67886000-67887600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:67886000-67887600	Weak transcription	Lung	lung
24	chr11:67886000-67887800	Enhancers	Primary B cells from peripheral blood	blood
25	chr11:67886000-67888000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr11:67886000-67888200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:67886000-67889600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr11:67886200-67887600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr11:67886200-67887800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr11:67886200-67888000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:67886200-67888000	Flanking Active TSS	Liver	Liver
32	chr11:67886200-67888000	Flanking Active TSS	Hela-S3	cervix
33	chr11:67886200-67888200	Flanking Active TSS	Dnd41	blood
34	chr11:67886400-67887400	Weak transcription	Left Ventricle	heart
35	chr11:67886400-67888200	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr11:67886600-67887400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:67886600-67887400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:67886600-67887400	Enhancers	Psoas Muscle	Psoas
39	chr11:67886600-67887400	Weak transcription	Right Ventricle	heart
40	chr11:67886600-67887400	Enhancers	HUVEC	blood vessel
41	chr11:67886600-67888000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr11:67886600-67889000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:67886600-67889200	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr11:67886600-67889200	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:67886600-67889200	Active TSS	GM12878-XiMat	blood
46	chr11:67886600-67889400	Active TSS	Brain Germinal Matrix	brain
47	chr11:67886600-67889600	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr11:67886600-67890000	Active TSS	H9 Cell Line	embryonic stem cell
49	chr11:67886800-67887400	Weak transcription	Fetal Kidney	kidney
50	chr11:67886800-67887400	Enhancers	Right Atrium	heart

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