Variant report

Variant	rs11234888
Chromosome Location	chr11:86651312-86651313
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr11:86651107-86651507	T-47D	breast:	n/a	n/a
2	POLR2A	chr11:86650474-86652116	HUVEC	blood vessel:	n/a	n/a
3	GATA3	chr11:86651149-86651542	T-47D	breast:	n/a	n/a
4	CEBPB	chr11:86651140-86651405	HepG2	liver:	n/a	n/a
5	FOXA2	chr11:86651088-86651496	HepG2	liver:	n/a	n/a
6	HEY1	chr11:86651059-86651984	HepG2	liver:	n/a	n/a
7	CEBPB	chr11:86651224-86651381	Hela-S3	cervix:	n/a	n/a
8	BHLHE40	chr11:86651164-86651701	K562	blood:	n/a	n/a
9	POLR2A	chr11:86651152-86652649	HepG2	liver:	n/a	n/a
10	NFIC	chr11:86651094-86651567	HepG2	liver:	n/a	n/a
11	MAZ	chr11:86651228-86652109	IMR90	lung:	n/a	n/a
12	POLR2A	chr11:86651075-86653486	HepG2	liver:	n/a	n/a
13	RCOR1	chr11:86651163-86651497	K562	blood:	n/a	n/a
14	POLR2A	chr11:86651250-86651872	HepG2	liver:	n/a	n/a
15	KAP1	chr11:86651113-86651867	U2OS	brain:	n/a	chr11:86651457-86651465
16	ZMIZ1	chr11:86651225-86651812	K562	blood:	n/a	n/a
17	TBP	chr11:86651117-86651914	K562	blood:	n/a	n/a
18	TEAD4	chr11:86651004-86653070	HepG2	liver:	n/a	n/a
19	MYC	chr11:86651019-86651767	K562	blood:	n/a	n/a
20	CBX3	chr11:86651155-86651852	K562	blood:	n/a	n/a
21	HCFC1	chr11:86651229-86651358	K562	blood:	n/a	n/a
22	NFIC	chr11:86651311-86652112	ECC-1	luminal epithelium:	n/a	n/a
23	FOXA1	chr11:86651142-86651515	T-47D	breast:	n/a	n/a
24	GATA3	chr11:86651128-86651490	MCF-7	breast:	n/a	n/a
25	IRF1	chr11:86650922-86651513	K562	blood:	n/a	n/a
26	FOXA1	chr11:86651007-86651619	HepG2	liver:	n/a	n/a
27	CTCF	chr11:86651171-86651345	K562	blood:	n/a	n/a
28	FOXA1	chr11:86651022-86651878	HepG2	liver:	n/a	n/a
29	POLR2A	chr11:86651010-86651423	HUVEC	blood vessel:	n/a	n/a
30	FOXA1	chr11:86651049-86651752	HepG2	liver:	n/a	n/a
31	NFIC	chr11:86651126-86651545	HepG2	liver:	n/a	n/a
32	CEBPB	chr11:86650822-86651771	K562	blood:	n/a	n/a
33	CHD2	chr11:86651142-86651596	K562	blood:	n/a	n/a
34	RCOR1	chr11:86651171-86651858	K562	blood:	n/a	n/a
35	MYBL2	chr11:86651003-86653078	HepG2	liver:	n/a	n/a
36	CEBPB	chr11:86650914-86651865	IMR90	lung:	n/a	n/a
37	JUND	chr11:86651163-86651779	K562	blood:	n/a	n/a
38	EP300	chr11:86651177-86651716	K562	blood:	n/a	chr11:86651360-86651370
39	CTCF	chr11:86651240-86651390	K562	blood:	n/a	n/a
40	POLR2A	chr11:86651068-86651885	HUVEC	blood vessel:	n/a	n/a
41	CEBPB	chr11:86651129-86651455	MCF-7	breast:	n/a	n/a
42	SMC3	chr11:86651096-86653131	HepG2	liver:	n/a	n/a
43	HDAC2	chr11:86651157-86651962	HepG2	liver:	n/a	chr11:86651361-86651370
44	UBTF	chr11:86651206-86651888	K562	blood:	n/a	n/a
45	HDAC2	chr11:86651092-86651517	HepG2	liver:	n/a	chr11:86651361-86651370
46	CEBPB	chr11:86651171-86651399	HepG2	liver:	n/a	n/a
47	MAZ	chr11:86651086-86651854	K562	blood:	n/a	n/a
48	CTCF	chr11:86651200-86651350	HCPEpiC	choroid plexus:	n/a	n/a
49	MAX	chr11:86651179-86651924	K562	blood:	n/a	n/a
50	RAD21	chr11:86651241-86651981	HepG2	liver:	n/a	chr11:86651299-86651312

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86642039..86644183-chr11:86648609..86651369,2	K562	blood:
2	chr11:86634165..86636651-chr11:86649750..86652297,2	K562	blood:
3	chr11:86649897..86655027-chr11:86664913..86668349,5	MCF-7	breast:
4	chr11:86648192..86652740-chr11:86665562..86667953,4	K562	blood:
5	chr11:86651265..86655109-chr11:86664872..86666696,3	MCF-7	breast:
6	chr11:86644585..86647286-chr11:86649266..86651387,4	K562	blood:

No data

Variant related genes	Relation type
PRSS23	TF binding region
ENSG00000174804	Chromatin interaction
ENSG00000246523	Chromatin interaction
ENSG00000255471	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10898563	1.00[YRI][hapmap]
rs3740664	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86640600-86652200	Weak transcription	Small Intestine	intestine
2	chr11:86643600-86663200	Weak transcription	Placenta	Placenta
3	chr11:86644000-86653200	Weak transcription	NHEK	skin
4	chr11:86645000-86656800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:86646000-86662000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:86647000-86662400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:86648000-86652400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:86649600-86653600	Enhancers	Fetal Stomach	stomach
9	chr11:86649800-86664600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:86650000-86652600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr11:86650000-86653200	Enhancers	Fetal Intestine Small	intestine
12	chr11:86650200-86651800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr11:86650200-86653000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:86650200-86658200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:86650200-86659600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:86650600-86653600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:86650600-86653800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:86650800-86651400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:86650800-86651800	Flanking Active TSS	K562	blood
20	chr11:86650800-86652000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr11:86650800-86653400	Enhancers	Fetal Heart	heart
22	chr11:86651000-86651400	Enhancers	Brain Angular Gyrus	brain
23	chr11:86651000-86651400	Flanking Active TSS	Stomach Mucosa	stomach
24	chr11:86651000-86651600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr11:86651000-86651600	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr11:86651000-86651800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr11:86651000-86651800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:86651000-86651800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:86651000-86651800	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr11:86651000-86651800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr11:86651000-86651800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr11:86651000-86651800	Enhancers	NH-A	brain
33	chr11:86651000-86652000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr11:86651000-86652000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr11:86651000-86652000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr11:86651000-86652000	Enhancers	HSMMtube	muscle
37	chr11:86651000-86652800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:86651000-86652800	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr11:86651000-86653000	Enhancers	Fetal Intestine Large	intestine
40	chr11:86651000-86653200	Flanking Active TSS	Liver	Liver
41	chr11:86651000-86653200	Enhancers	Placenta Amnion	Placenta Amnion
42	chr11:86651000-86653200	Enhancers	Right Ventricle	heart
43	chr11:86651000-86653400	Flanking Active TSS	HUVEC	blood vessel
44	chr11:86651000-86654000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:86651000-86656800	Weak transcription	Fetal Brain Male	brain
46	chr11:86651200-86651400	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr11:86651200-86651400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr11:86651200-86651600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr11:86651200-86651600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr11:86651200-86651600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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