Variant report

Variant	rs2280098
Chromosome Location	chr11:72296872-72296873
allele	C/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	CTCF	chr11:72296776-72296998	SK-N-SH_RA	brain:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
2	CTCF	chr11:72296800-72296950	NB4	blood:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
3	CTCF	chr11:72296840-72296990	HMF	breast:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
4	STAT1	chr11:72296750-72297006	GM12878	blood:	n/a	n/a
5	CTCF	chr11:72296860-72297010	BE2_C	brain:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
6	CTCF	chr11:72296820-72296970	AoAF	blood vessel:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
7	ZNF143	chr11:72296774-72297064	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr11:72296780-72296930	A549	lung:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
9	CTCF	chr11:72296840-72296990	SAEC	small airway:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
10	CEBPB	chr11:72296750-72297094	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr11:72296840-72296990	HMEC	breast:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
12	CTCF	chr11:72296760-72296910	HVMF	connective:	n/a	n/a
13	CTCF	chr11:72296800-72296950	AG04450	lung:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
14	CTCF	chr11:72296757-72297058	MCF-7	breast:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
15	CTCF	chr11:72296840-72296990	AG09309	skin:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
16	ZKSCAN1	chr11:72296723-72297109	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr11:72296780-72296930	HVMF	connective:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
18	CTCF	chr11:72296840-72296990	HPF	lung:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
19	CTCF	chr11:72296776-72297025	HepG2	liver:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
20	CTCF	chr11:72296820-72296970	GM12865	blood:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
21	RAD21	chr11:72296778-72297081	GM12878	blood:	n/a	chr11:72296905-72296924 chr11:72296909-72296918 chr11:72296990-72297003
22	CTCF	chr11:72296731-72297093	ECC-1	luminal epithelium:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
23	RAD21	chr11:72296713-72297150	H1-hESC	embryonic stem cell:	n/a	chr11:72296905-72296924 chr11:72296909-72296918 chr11:72296990-72297003
24	ZNF143	chr11:72296740-72297107	K562	blood:	n/a	n/a
25	RAD21	chr11:72296657-72297179	A549	lung:	n/a	chr11:72296905-72296924 chr11:72296909-72296918 chr11:72296990-72297003
26	CTCF	chr11:72296800-72296950	GM12878	blood:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
27	CTCF	chr11:72296860-72297010	GM12867	blood:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
28	REST	chr11:72296808-72297032	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr11:72296750-72297072	MCF-7	breast:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
30	RUNX3	chr11:72296724-72297159	GM12878	blood:	n/a	n/a
31	CTCF	chr11:72296791-72297123	ECC-1	luminal epithelium:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
32	CTCF	chr11:72296840-72296990	AG04449	skin:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
33	CTCF	chr11:72296743-72297059	Kidney_OC	kidney:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
34	MXI1	chr11:72296746-72297250	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr11:72296840-72296990	GM12873	blood:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
36	MAFK	chr11:72296825-72296942	HepG2	liver:	n/a	n/a
37	CTCF	chr11:72296673-72297253	H1-hESC	embryonic stem cell:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
38	CTCF	chr11:72296708-72297107	A549	lung:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
39	CTCF	chr11:72296840-72296990	HCFaa	heart:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
40	CTCF	chr11:72296840-72296990	GM12871	blood:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
41	CTCF	chr11:72296800-72296950	HMEC	breast:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
42	MAX	chr11:72296793-72297423	H1-hESC	embryonic stem cell:	n/a	n/a
43	PAX5	chr11:72296847-72296971	GM12892	blood:	n/a	n/a
44	CTCF	chr11:72296840-72296990	NHEK	skin:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
45	CTCF	chr11:72296739-72297269	GM19240	blood:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
46	CTCF	chr11:72296820-72296970	AG09309	skin:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
47	CTCF	chr11:72296752-72297091	MCF-7	breast:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296994-72297003 chr11:72296909-72296917
48	CTCF	chr11:72296840-72296990	AG04450	lung:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917
49	TBP	chr11:72296783-72296924	K562	blood:	n/a	n/a
50	CTCF	chr11:72296840-72296990	K562	blood:	n/a	chr11:72296904-72296922 chr11:72296906-72296927 chr11:72296905-72296921 chr11:72296909-72296917

No.	Distal block	Cell Line	Cell type
1	chr11:72296502..72297376-chr11:72395958..72396520,2	MCF-7	breast:
2	chr11:72296447..72297845-chr11:72353504..72354713,7	K562	blood:
3	chr11:72296471..72297070-chr9:124082115..124083042,2	MCF-7	breast:
4	chr11:72293642..72296987-chr11:72305169..72308806,3	K562	blood:
5	chr11:72296452..72297372-chr11:72394539..72395851,6	K562	blood:
6	chr11:72296845..72297348-chr11:72435939..72436594,2	MCF-7	breast:
7	chr11:72296480..72297346-chr11:72353767..72354676,6	MCF-7	breast:
8	chr11:72296725..72297374-chr11:72354165..72354741,3	MCF-7	breast:
9	chr11:72296491..72297510-chr11:72394098..72395409,7	MCF-7	breast:
10	chr11:72296428..72297428-chr11:72319819..72320660,3	K562	blood:
11	chr11:72296372..72297374-chr11:72394518..72396001,14	MCF-7	breast:
12	chr11:72296290..72298489-chr11:72299614..72302412,2	MCF-7	breast:

Variant related genes	Relation type
PDE2A	TF binding region
ENSG00000256007	Chromatin interaction
ENSG00000186642	Chromatin interaction
ENSG00000255808	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10793036	0.87[ASN][1000 genomes]
rs11235546	0.87[ASN][1000 genomes]
rs1135029	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605051	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1467135	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168173	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980089	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980090	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs341049	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs341086	0.88[ASN][1000 genomes]
rs341088	0.91[ASN][1000 genomes]
rs3781938	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781939	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429075	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943939	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56350365	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895571	0.87[ASN][1000 genomes]
rs90409	0.86[ASN][1000 genomes]
rs907850	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
2	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
3	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
5	nsv468633	chr11:72281884-72336564	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv468634	chr11:72281884-72336564	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv555406	chr11:72281884-72336564	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
9	nsv468635	chr11:72284569-72336564	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv555407	chr11:72284569-72336564	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1042182	chr11:72294042-72348491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72289400-72299800	Weak transcription	Lung	lung
2	chr11:72293600-72298200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:72293600-72300800	Weak transcription	Left Ventricle	heart
4	chr11:72294400-72297200	Enhancers	Pancreas	Pancrea
5	chr11:72294600-72300000	Weak transcription	Brain Anterior Caudate	brain
6	chr11:72295000-72297400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr11:72295000-72300800	Weak transcription	Right Ventricle	heart
8	chr11:72295200-72297200	Bivalent Enhancer	Placenta	Placenta
9	chr11:72295200-72297400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
10	chr11:72295200-72297400	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr11:72295200-72303000	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:72295600-72297800	Genic enhancers	Spleen	Spleen
13	chr11:72295800-72297000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr11:72295800-72297200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr11:72295800-72297200	Bivalent Enhancer	Stomach Mucosa	stomach
16	chr11:72295800-72297400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
17	chr11:72295800-72301000	Weak transcription	Gastric	stomach
18	chr11:72296000-72297200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
19	chr11:72296000-72297200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
20	chr11:72296000-72297400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr11:72296000-72297400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:72296200-72297000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
23	chr11:72296200-72297000	Bivalent Enhancer	NHEK	skin
24	chr11:72296200-72297200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:72296200-72297200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:72296200-72297200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
27	chr11:72296200-72297400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:72296200-72299600	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:72296400-72297000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
30	chr11:72296400-72297000	Bivalent Enhancer	Primary B cells from cord blood	blood
31	chr11:72296400-72297200	Bivalent Enhancer	Liver	Liver
32	chr11:72296400-72297200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr11:72296400-72297200	Bivalent Enhancer	GM12878-XiMat	blood
34	chr11:72296400-72299200	Flanking Active TSS	Hela-S3	cervix
35	chr11:72296600-72297000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:72296600-72297000	Enhancers	Brain Substantia Nigra	brain
37	chr11:72296600-72297000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr11:72296600-72297200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr11:72296600-72297200	Weak transcription	Fetal Brain Female	brain
40	chr11:72296600-72297200	Enhancers	HSMM	muscle
41	chr11:72296600-72299600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:72296600-72300800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr11:72296600-72304000	Weak transcription	Brain Angular Gyrus	brain
44	chr11:72296800-72297000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr11:72296800-72297200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
46	chr11:72296800-72297200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr11:72296800-72297200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:72296800-72297200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:72296800-72297200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr11:72296800-72297200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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