Variant report

Variant	rs60080768
Chromosome Location	chr11:64099847-64099848
allele	A/T
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	NFIC	chr11:64099032-64099936	SK-N-SH	brain:	n/a	n/a
2	CHD2	chr11:64099174-64099926	Hela-S3	cervix:	n/a	n/a
3	SMARCC2	chr11:64099081-64100024	Hela-S3	cervix:	n/a	chr11:64099216-64099225 chr11:64099675-64099684
4	CTCF	chr11:64099740-64099890	HFF-Myc	foreskin:	n/a	chr11:64099815-64099836
5	JUN	chr11:64098831-64100125	K562	blood:	n/a	chr11:64099217-64099225 chr11:64099323-64099336 chr11:64099449-64099461 chr11:64099675-64099683 chr11:64099671-64099682
6	SMC3	chr11:64099143-64100070	Hela-S3	cervix:	n/a	chr11:64099756-64099766 chr11:64099749-64099759
7	POLR2A	chr11:64099116-64100115	Hela-S3	cervix:	n/a	n/a
8	USF2	chr11:64099002-64099921	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr11:64099039-64099891	Hela-S3	cervix:	n/a	n/a
10	NR2F2	chr11:64099057-64099869	MCF-7	breast:	n/a	n/a
11	TCF12	chr11:64098804-64100003	A549	lung:	n/a	chr11:64099684-64099694
12	CTCF	chr11:64099840-64099990	GM12870	blood:	n/a	n/a
13	JUND	chr11:64099017-64099934	A549	lung:	n/a	chr11:64099217-64099225 chr11:64099449-64099461 chr11:64099675-64099683 chr11:64099671-64099682
14	MAX	chr11:64099074-64099933	ECC-1	luminal epithelium:	n/a	chr11:64099679-64099688
15	CTCF	chr11:64098873-64100162	A549	lung:	n/a	chr11:64099815-64099836 chr11:64099483-64099492 chr11:64099477-64099495
16	MAX	chr11:64099022-64100054	Hela-S3	cervix:	n/a	chr11:64099679-64099688
17	NR2F2	chr11:64098880-64100192	K562	blood:	n/a	n/a
18	EP300	chr11:64098926-64099916	A549	lung:	n/a	chr11:64099206-64099219
19	POLR2A	chr11:64099071-64099956	Hela-S3	cervix:	n/a	n/a
20	SMARCB1	chr11:64099008-64100183	Hela-S3	cervix:	n/a	chr11:64099216-64099225 chr11:64099675-64099684
21	ZBTB7A	chr11:64099217-64100128	ECC-1	luminal epithelium:	n/a	n/a
22	MYC	chr11:64099064-64099919	Hela-S3	cervix:	n/a	chr11:64099679-64099688
23	GTF2F1	chr11:64099031-64100088	Hela-S3	cervix:	n/a	n/a
24	TBP	chr11:64099161-64100041	Hela-S3	cervix:	n/a	n/a
25	MXI1	chr11:64099111-64099863	Hela-S3	cervix:	n/a	n/a
26	RCOR1	chr11:64099179-64100081	Hela-S3	cervix:	n/a	n/a
27	NFIC	chr11:64099064-64100266	ECC-1	luminal epithelium:	n/a	n/a
28	RFX5	chr11:64099157-64099916	Hela-S3	cervix:	n/a	n/a
29	ESRRA	chr11:64098743-64100083	GM12878	blood:	n/a	chr11:64100054-64100064
30	NFIC	chr11:64099061-64100047	ECC-1	luminal epithelium:	n/a	n/a
31	MAX	chr11:64099028-64099992	Hela-S3	cervix:	n/a	chr11:64099679-64099688
32	MAZ	chr11:64098869-64100075	IMR90	lung:	n/a	chr11:64099679-64099688
33	SMARCC1	chr11:64098949-64100091	Hela-S3	cervix:	n/a	chr11:64099216-64099225 chr11:64099675-64099684
34	SP1	chr11:64098970-64100017	A549	lung:	n/a	chr11:64099870-64099884
35	CTCF	chr11:64099780-64099930	AG09309	skin:	n/a	chr11:64099815-64099836
36	HCFC1	chr11:64098768-64100286	Hela-S3	cervix:	n/a	n/a
37	JUND	chr11:64099046-64099928	GM12878	blood:	n/a	chr11:64099217-64099225 chr11:64099449-64099461 chr11:64099675-64099683 chr11:64099671-64099682
38	ZBTB7A	chr11:64099288-64100201	ECC-1	luminal epithelium:	n/a	n/a
39	CTCF	chr11:64098947-64099967	SK-N-SH	brain:	n/a	chr11:64099815-64099836 chr11:64099483-64099492 chr11:64099477-64099495
40	TCF12	chr11:64099086-64100177	ECC-1	luminal epithelium:	n/a	chr11:64100103-64100113 chr11:64099684-64099694
41	POLR2A	chr11:64099198-64099924	Hela-S3	cervix:	n/a	n/a
42	TFAP2C	chr11:64099119-64100153	Hela-S3	cervix:	n/a	n/a
43	MAX	chr11:64098798-64100102	A549	lung:	n/a	chr11:64099679-64099688
44	POLR2A	chr11:64099104-64100186	Hela-S3	cervix:	n/a	n/a
45	FOSL2	chr11:64098925-64099963	A549	lung:	n/a	chr11:64099217-64099225 chr11:64099449-64099461 chr11:64099675-64099683 chr11:64099671-64099682
46	MAX	chr11:64098945-64099989	A549	lung:	n/a	chr11:64099679-64099688
47	TCF12	chr11:64099078-64100047	ECC-1	luminal epithelium:	n/a	chr11:64099684-64099694
48	MAZ	chr11:64099227-64100147	Hela-S3	cervix:	n/a	chr11:64099679-64099688
49	BRCA1	chr11:64099132-64099876	Hela-S3	cervix:	n/a	n/a
50	TFAP2A	chr11:64099169-64100009	Hela-S3	cervix:	n/a	chr11:64099514-64099529

No.	Distal block	Cell Line	Cell type
1	chr11:64085151..64088381-chr11:64098338..64102157,4	MCF-7	breast:
2	chr11:64099746..64102577-chr11:64121757..64123741,2	K562	blood:
3	chr11:64097994..64100994-chr11:64107774..64110430,3	MCF-7	breast:
4	chr11:64085535..64086462-chr11:64099305..64100007,3	K562	blood:
5	chr11:64084583..64085097-chr11:64099406..64099957,2	MCF-7	breast:
6	chr11:64099595..64101669-chr17:1927055..1928977,2	MCF-7	breast:
7	chr11:63973100..63975827-chr11:64099770..64102904,4	K562	blood:
8	chr11:64099223..64101022-chr11:64601289..64603395,2	MCF-7	breast:
9	chr11:64085123..64085883-chr11:64099302..64100001,2	MCF-7	breast:
10	chr11:64097984..64104274-chr11:64108545..64113861,10	MCF-7	breast:
11	chr11:64084119..64084641-chr11:64099272..64099906,2	MCF-7	breast:
12	chr11:64097645..64100865-chr11:64101163..64102730,3	K562	blood:
13	chr1:78470152..78470987-chr11:64099371..64099976,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000236935	TF binding region
ENSG00000185924	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000273338	Chromatin interaction
ENSG00000162616	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000149781	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs41294390	1.00[ASN][1000 genomes]
rs45553131	1.00[ASN][1000 genomes]
rs45615733	1.00[AMR][1000 genomes]
rs55653360	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55697310	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56268570	1.00[AMR][1000 genomes]
rs57437106	1.00[AMR][1000 genomes]
rs58127892	1.00[AMR][1000 genomes]
rs58851354	1.00[AMR][1000 genomes]
rs59413043	1.00[AMR][1000 genomes]
rs59466454	0.83[AFR][1000 genomes]
rs61578679	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
6	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
7	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
8	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
10	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
11	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
12	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
13	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
14	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
15	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
16	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
17	nsv555192	chr11:64097233-64111928	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	n/a
18	nsv818840	chr11:64097233-64125142	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
19	nsv818841	chr11:64097233-64129722	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64087000-64108200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:64089400-64106800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:64091600-64106400	Weak transcription	Primary T cells from cord blood	blood
4	chr11:64096600-64100200	Enhancers	Fetal Thymus	thymus
5	chr11:64098000-64100800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:64098200-64100200	Enhancers	Spleen	Spleen
7	chr11:64098400-64100000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr11:64098400-64100000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:64098400-64100200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr11:64098400-64100200	Enhancers	Esophagus	oesophagus
11	chr11:64098400-64100200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr11:64098400-64100400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:64098600-64100000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:64098600-64100000	Enhancers	Pancreas	Pancrea
15	chr11:64098600-64100200	Enhancers	Primary B cells from cord blood	blood
16	chr11:64098600-64100200	Enhancers	Stomach Mucosa	stomach
17	chr11:64098600-64100200	Flanking Active TSS	Hela-S3	cervix
18	chr11:64098600-64100200	Enhancers	HMEC	breast
19	chr11:64098800-64100000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr11:64098800-64100000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:64098800-64100200	Enhancers	Fetal Intestine Small	intestine
22	chr11:64098800-64100400	Enhancers	Primary B cells from peripheral blood	blood
23	chr11:64098800-64100400	Enhancers	Primary hematopoietic stem cells	blood
24	chr11:64099000-64100000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:64099000-64100000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr11:64099000-64100000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:64099000-64100000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:64099000-64100000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr11:64099000-64100000	Enhancers	Fetal Intestine Large	intestine
30	chr11:64099000-64100000	Enhancers	Ovary	ovary
31	chr11:64099000-64100000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr11:64099000-64100000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr11:64099000-64100000	Enhancers	Small Intestine	intestine
34	chr11:64099000-64100000	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr11:64099000-64100000	Enhancers	HSMM	muscle
36	chr11:64099000-64100000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr11:64099000-64100000	Enhancers	NHDF-Ad	bronchial
38	chr11:64099000-64100000	Enhancers	NHLF	lung
39	chr11:64099000-64100200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr11:64099000-64100200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:64099000-64100200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:64099000-64100200	Enhancers	Lung	lung
43	chr11:64099000-64100200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr11:64099000-64100200	Flanking Active TSS	A549	lung
45	chr11:64099000-64100200	Enhancers	NH-A	brain
46	chr11:64099000-64100200	Flanking Active TSS	NHEK	skin
47	chr11:64099200-64100000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:64099200-64100000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:64099200-64100000	Enhancers	Placenta	Placenta
50	chr11:64099200-64100000	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links