Variant report

Variant	rs11885876
Chromosome Location	chr2:20792472-20792473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr2:20792356-20792595	H1-hESC	embryonic stem cell:	n/a	chr2:20792508-20792519
2	CTCF	chr2:20792420-20792570	NB4	blood:	n/a	n/a
3	CTCF	chr2:20792360-20792510	HCT-116	colon:	n/a	n/a
4	CTCF	chr2:20792290-20792606	H1-hESC	embryonic stem cell:	n/a	n/a
5	EP300	chr2:20792392-20793681	HepG2	liver:	n/a	chr2:20793389-20793402
6	USF2	chr2:20792346-20792546	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF1	chr2:20792365-20792622	HepG2	liver:	n/a	chr2:20792508-20792519
8	CTCF	chr2:20792380-20792530	HepG2	liver:	n/a	n/a
9	CTCF	chr2:20792360-20792510	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr2:20792453-20792502	GM12892	blood:	n/a	n/a
11	NFIC	chr2:20792094-20793837	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:20791687-20794320	HepG2	liver:	n/a	n/a
13	RCOR1	chr2:20791837-20792644	K562	blood:	n/a	n/a
14	MXI1	chr2:20792316-20793801	HepG2	liver:	n/a	n/a
15	CTCF	chr2:20792400-20792550	WERI-Rb-1	eye:	n/a	n/a
16	BHLHE40	chr2:20792294-20793718	HepG2	liver:	n/a	n/a
17	CTCF	chr2:20792400-20792550	HEK293	kidney:	n/a	n/a
18	CTCF	chr2:20792319-20792606	HepG2	liver:	n/a	n/a
19	CTCF	chr2:20792360-20792510	HBMEC	blood vessel:	n/a	n/a
20	CTCF	chr2:20792366-20792587	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZBTB7A	chr2:20792304-20792541	K562	blood:	n/a	n/a
22	CTCF	chr2:20792360-20792510	GM12875	blood:	n/a	n/a
23	CTCF	chr2:20792420-20792570	K562	blood:	n/a	n/a
24	SMC3	chr2:20792334-20793944	HepG2	liver:	n/a	chr2:20793534-20793548 chr2:20793540-20793548
25	USF1	chr2:20792324-20792650	K562	blood:	n/a	chr2:20792508-20792519
26	RCOR1	chr2:20792269-20793785	HepG2	liver:	n/a	n/a
27	CHD2	chr2:20792444-20792648	HepG2	liver:	n/a	n/a
28	CTCF	chr2:20792418-20792551	HepG2	liver:	n/a	n/a
29	CTCF	chr2:20792340-20792490	K562	blood:	n/a	n/a
30	POLR2A	chr2:20792080-20794068	HepG2	liver:	n/a	n/a
31	MYBL2	chr2:20792023-20793914	HepG2	liver:	n/a	n/a
32	CTCF	chr2:20792380-20792530	MCF-7	breast:	n/a	n/a
33	CTCF	chr2:20792381-20792534	GM12891	blood:	n/a	n/a
34	MAZ	chr2:20791983-20792497	K562	blood:	n/a	n/a
35	CTCF	chr2:20792380-20792530	Caco-2	colon:	n/a	n/a
36	RAD21	chr2:20792371-20792547	K562	blood:	n/a	n/a
37	CTCF	chr2:20792420-20792570	GM12864	blood:	n/a	n/a
38	MBD4	chr2:20792239-20794082	HepG2	liver:	n/a	n/a
39	NR2F2	chr2:20792439-20794095	HepG2	liver:	n/a	chr2:20793427-20793442
40	EP300	chr2:20792094-20794070	HepG2	liver:	n/a	chr2:20792109-20792123 chr2:20793389-20793402
41	ZNF143	chr2:20792292-20792617	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr2:20792380-20792530	HCPEpiC	choroid plexus:	n/a	n/a
43	USF1	chr2:20792338-20792703	H1-hESC	embryonic stem cell:	n/a	chr2:20792508-20792519
44	RAD21	chr2:20792285-20792668	HepG2	liver:	n/a	n/a
45	HEY1	chr2:20792091-20793735	HepG2	liver:	n/a	n/a
46	CTCF	chr2:20792360-20792510	HCFaa	heart:	n/a	n/a
47	MBD4	chr2:20792092-20794024	HepG2	liver:	n/a	n/a
48	CTCF	chr2:20792429-20792535	MCF-7	breast:	n/a	n/a
49	USF2	chr2:20792381-20792626	HepG2	liver:	n/a	n/a
50	CTCF	chr2:20792393-20792558	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20644797..20655251-chr2:20787626..20802274,53	MCF-7	breast:
2	chr2:20783982..20787771-chr2:20790367..20794656,9	K562	blood:
3	chr2:20792169..20793794-chr2:20803902..20806488,2	K562	blood:
4	chr2:20792451..20795082-chr2:20807654..20810315,4	MCF-7	breast:
5	chr2:20644186..20651576-chr2:20790196..20799394,18	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GDF7-4	chr2:20792414-20792554	NONHSAT069453

No data

Variant related genes	Relation type
HS1BP3-IT1	TF binding region
ENSG00000228950	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000269976	Chromatin interaction
ENSG00000233416	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs7340497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7588678	1.00[JPT][hapmap]
rs7595132	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs896737	1.00[JPT][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	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv581167	chr2:20791125-20827846	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20784600-20794200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:20785000-20796000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:20785800-20793000	Weak transcription	Gastric	stomach
4	chr2:20785800-20794600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:20785800-20795200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:20785800-20796000	Weak transcription	Aorta	Aorta
7	chr2:20786000-20792800	Weak transcription	Colonic Mucosa	Colon
8	chr2:20786000-20793000	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:20786000-20794200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:20786000-20795200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:20786200-20797600	Weak transcription	Psoas Muscle	Psoas
12	chr2:20786800-20793400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:20787200-20800200	Enhancers	Right Ventricle	heart
14	chr2:20787400-20792800	Weak transcription	Fetal Kidney	kidney
15	chr2:20787400-20794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:20788400-20794200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:20788400-20794200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:20789000-20794000	Enhancers	NHEK	skin
19	chr2:20789000-20798200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:20789200-20797000	Enhancers	Spleen	Spleen
21	chr2:20789200-20800400	Enhancers	Placenta	Placenta
22	chr2:20789400-20795400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:20789600-20792800	Weak transcription	HUVEC	blood vessel
24	chr2:20790000-20792800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:20790200-20797800	Enhancers	Fetal Intestine Large	intestine
26	chr2:20790400-20793600	Enhancers	Fetal Intestine Small	intestine
27	chr2:20790600-20792600	Weak transcription	Osteobl	bone
28	chr2:20790600-20792800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:20790800-20792800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:20790800-20801200	Enhancers	Adipose Nuclei	Adipose
31	chr2:20791000-20792800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:20791000-20794200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:20791200-20792600	Weak transcription	Stomach Mucosa	stomach
34	chr2:20791200-20793000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:20791200-20793000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:20791200-20793800	Weak transcription	Brain Angular Gyrus	brain
37	chr2:20791200-20794800	Weak transcription	Brain Anterior Caudate	brain
38	chr2:20791200-20794800	Weak transcription	Brain Substantia Nigra	brain
39	chr2:20791200-20795000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:20791200-20795200	Weak transcription	Esophagus	oesophagus
41	chr2:20791200-20795400	Weak transcription	Fetal Brain Male	brain
42	chr2:20791200-20795600	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:20791200-20796600	Weak transcription	Fetal Heart	heart
44	chr2:20791400-20792600	Weak transcription	NHDF-Ad	bronchial
45	chr2:20791400-20793000	Weak transcription	Fetal Lung	lung
46	chr2:20791400-20793200	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:20791400-20796600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:20791800-20792800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr2:20791800-20792800	Enhancers	GM12878-XiMat	blood
50	chr2:20791800-20793000	Weak transcription	Left Ventricle	heart

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