Variant report

Variant	rs396912
Chromosome Location	chr21:45994488-45994489
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr21:45994407-45994536	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF143	chr21:45994456-45994555	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr21:45994248-45994964	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr21:45994380-45994530	HCFaa	heart:	n/a	n/a
5	CTCF	chr21:45994380-45994530	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr21:45994380-45994530	GM12870	blood:	n/a	n/a
7	CTCF	chr21:45994276-45994494	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr21:45994400-45994550	MCF-7	breast:	n/a	n/a
9	RAD21	chr21:45994372-45994550	K562	blood:	n/a	n/a
10	CTCF	chr21:45994440-45994590	GM12865	blood:	n/a	n/a
11	CTCF	chr21:45994326-45994557	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr21:45994340-45994490	GM12867	blood:	n/a	n/a
13	CTCF	chr21:45994360-45994510	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr21:45994353-45994644	MCF-7	breast:	n/a	n/a
15	CTCF	chr21:45994340-45994490	GM12864	blood:	n/a	n/a
16	CTCF	chr21:45994400-45994550	NB4	blood:	n/a	n/a
17	EP300	chr21:45994456-45995226	ECC-1	luminal epithelium:	n/a	chr21:45995019-45995033
18	CTCF	chr21:45994380-45994530	GM12864	blood:	n/a	n/a
19	CTCF	chr21:45994360-45994510	HEK293	kidney:	n/a	n/a
20	CTCF	chr21:45994360-45994510	GM06990	blood:	n/a	n/a
21	CTCF	chr21:45994340-45994490	GM12873	blood:	n/a	n/a
22	CTCF	chr21:45994440-45994590	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr21:45994399-45994488	MCF-7	breast:	n/a	n/a
24	CTCF	chr21:45994360-45994510	HepG2	liver:	n/a	n/a
25	CTCF	chr21:45994216-45994590	Gliobla	brain:	n/a	n/a
26	CTCF	chr21:45994360-45994510	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr21:45994400-45994550	HCT-116	colon:	n/a	n/a
28	CTCF	chr21:45994357-45994497	MCF-7	breast:	n/a	n/a
29	CTCF	chr21:45994360-45994510	GM12865	blood:	n/a	n/a
30	CTCF	chr21:45994219-45994523	Fibrobl	skin:	n/a	n/a
31	TCF12	chr21:45994421-45995259	ECC-1	luminal epithelium:	n/a	chr21:45995252-45995259
32	CTCF	chr21:45993998-45994497	K562	blood:	n/a	n/a
33	CTCF	chr21:45994226-45994600	MCF-7	breast:	n/a	n/a
34	CTCF	chr21:45994360-45994510	K562	blood:	n/a	n/a
35	CTCF	chr21:45994380-45994530	GM12871	blood:	n/a	n/a
36	CTCF	chr21:45994400-45994550	GM12866	blood:	n/a	n/a
37	MYC	chr21:45994482-45994553	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr21:45994360-45994510	NHEK	skin:	n/a	n/a
39	CTCF	chr21:45994189-45994638	NHEK	skin:	n/a	n/a
40	HNF4A	chr21:45994454-45995204	HepG2	liver:	n/a	n/a
41	CTCF	chr21:45994482-45994494	A549	lung:	n/a	n/a
42	CTCF	chr21:45994340-45994490	K562	blood:	n/a	n/a
43	CTCF	chr21:45994332-45994682	H1-hESC	embryonic stem cell:	n/a	n/a
44	TCF12	chr21:45994478-45995247	ECC-1	luminal epithelium:	n/a	n/a
45	CTCF	chr21:45994400-45994550	GM12873	blood:	n/a	n/a
46	RCOR1	chr21:45994486-45994679	HepG2	liver:	n/a	n/a
47	CTCF	chr21:45994360-45994510	HBMEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45989841..45993258-chr21:45994452..45997591,3	MCF-7	breast:
2	chr21:45947897..45950026-chr21:45993818..45996487,2	MCF-7	breast:

No data

Variant related genes	Relation type
TSPEAR	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1211057	1.00[EUR][1000 genomes]
rs1211058	0.90[EUR][1000 genomes]
rs1211059	1.00[EUR][1000 genomes]
rs1211060	1.00[EUR][1000 genomes]
rs1211061	1.00[EUR][1000 genomes]
rs144266	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs144267	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs369111	1.00[EUR][1000 genomes]
rs379858	1.00[EUR][1000 genomes]
rs380585	1.00[EUR][1000 genomes]
rs400368	1.00[EUR][1000 genomes]
rs401727	1.00[EUR][1000 genomes]
rs403940	1.00[EUR][1000 genomes]
rs412062	0.90[EUR][1000 genomes]
rs426512	1.00[EUR][1000 genomes]
rs426973	1.00[EUR][1000 genomes]
rs430609	1.00[EUR][1000 genomes]
rs430791	0.90[EUR][1000 genomes]
rs432174	1.00[EUR][1000 genomes]
rs434716	1.00[EUR][1000 genomes]
rs455413	1.00[EUR][1000 genomes]
rs455562	1.00[EUR][1000 genomes]
rs455714	1.00[EUR][1000 genomes]
rs455777	1.00[EUR][1000 genomes]
rs455911	1.00[EUR][1000 genomes]
rs456444	1.00[EUR][1000 genomes]
rs457322	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs457974	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs458563	0.84[EUR][1000 genomes]
rs459667	1.00[EUR][1000 genomes]
rs459845	1.00[EUR][1000 genomes]
rs459915	1.00[EUR][1000 genomes]
rs460064	1.00[EUR][1000 genomes]
rs460085	1.00[EUR][1000 genomes]
rs460122	1.00[EUR][1000 genomes]
rs460166	0.84[EUR][1000 genomes]
rs460546	0.95[EUR][1000 genomes]
rs461815	1.00[EUR][1000 genomes]
rs462025	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs462254	1.00[EUR][1000 genomes]
rs462349	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs462697	1.00[EUR][1000 genomes]
rs462711	1.00[EUR][1000 genomes]
rs463239	1.00[EUR][1000 genomes]
rs463267	1.00[EUR][1000 genomes]
rs463668	1.00[EUR][1000 genomes]
rs463966	1.00[EUR][1000 genomes]
rs464281	1.00[EUR][1000 genomes]
rs464391	1.00[EUR][1000 genomes]
rs464504	1.00[EUR][1000 genomes]
rs464684	1.00[EUR][1000 genomes]
rs465333	1.00[EUR][1000 genomes]
rs465930	1.00[EUR][1000 genomes]
rs466094	1.00[EUR][1000 genomes]
rs466560	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv913946	chr21:45838632-46031810	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv913948	chr21:45860912-46031810	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1056424	chr21:45894901-46031810	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv544475	chr21:45894901-46031810	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1055163	chr21:45895663-46031810	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1065798	chr21:45941000-46097463	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv869108	chr21:45941000-46097463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv544476	chr21:45941000-46097463	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv1061423	chr21:45985068-46009217	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv913951	chr21:45985068-46012524	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv913950	chr21:45985068-46097463	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv913952	chr21:45988426-46031810	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	esv2751931	chr21:45990446-46031810	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv587810	chr21:45992131-46031810	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	esv3421605	chr21:45992974-45995472	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45994200-45994600	Flanking Active TSS	Colonic Mucosa	Colon
2	chr21:45994200-45994600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr21:45994200-45994800	Enhancers	Esophagus	oesophagus
4	chr21:45994200-45995000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
5	chr21:45994200-45995000	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr21:45994200-45995000	Enhancers	Gastric	stomach
7	chr21:45994200-45995600	Enhancers	Liver	Liver
8	chr21:45994400-45994600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr21:45994400-45994600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr21:45994400-45994600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
11	chr21:45994400-45994600	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
12	chr21:45994400-45994800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
13	chr21:45994400-45994800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr21:45994400-45995000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr21:45994400-45995000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr21:45994400-45995000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr21:45994400-45995000	Enhancers	Pancreas	Pancrea
18	chr21:45994400-45995000	Flanking Active TSS	HepG2	liver
19	chr21:45994400-45995200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:45994400-45995200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr21:45994400-45995400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:45994400-45995400	Enhancers	Spleen	Spleen

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