Variant report

Variant	rs45498502
Chromosome Location	chr2:234620050-234620051
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	RAD21	chr2:234620013-234620442	H1-hESC	embryonic stem cell:	n/a	chr2:234620248-234620257 chr2:234620242-234620261 chr2:234620244-234620256
2	FOSL2	chr2:234619971-234620598	A549	lung:	n/a	n/a
3	SP1	chr2:234619759-234620586	A549	lung:	n/a	n/a
4	RAD21	chr2:234620043-234620452	GM12878	blood:	n/a	chr2:234620248-234620257 chr2:234620242-234620261 chr2:234620244-234620256
5	TCF12	chr2:234618903-234620639	A549	lung:	n/a	chr2:234620027-234620034
6	YY1	chr2:234620002-234620439	HepG2	liver:	n/a	chr2:234620242-234620256
7	RAD21	chr2:234619957-234620493	MCF-7	breast:	n/a	chr2:234620248-234620257 chr2:234620242-234620261 chr2:234620244-234620256
8	RAD21	chr2:234619910-234620545	H1-hESC	embryonic stem cell:	n/a	chr2:234620248-234620257 chr2:234620242-234620261 chr2:234620244-234620256
9	EP300	chr2:234619708-234620620	A549	lung:	n/a	chr2:234620402-234620416 chr2:234620430-234620446
10	CTCF	chr2:234620030-234620565	K562	blood:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
11	MAX	chr2:234619991-234620672	A549	lung:	n/a	n/a
12	RAD21	chr2:234619826-234620610	SK-N-SH	brain:	n/a	chr2:234620248-234620257 chr2:234620242-234620261 chr2:234620244-234620256
13	RAD21	chr2:234620030-234620454	A549	lung:	n/a	chr2:234620248-234620257 chr2:234620242-234620261 chr2:234620244-234620256
14	CTCF	chr2:234620031-234620417	K562	blood:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
15	SMC3	chr2:234620000-234620487	HepG2	liver:	n/a	chr2:234620246-234620260
16	CTCF	chr2:234619985-234620514	A549	lung:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
17	SMC3	chr2:234620047-234620431	K562	blood:	n/a	chr2:234620246-234620260
18	CTCF	chr2:234619924-234620646	SK-N-SH	brain:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
19	CTCF	chr2:234618797-234620924	A549	lung:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
20	RAD21	chr2:234620023-234620441	Hela-S3	cervix:	n/a	chr2:234620248-234620257 chr2:234620242-234620261 chr2:234620244-234620256
21	SP1	chr2:234619811-234620542	A549	lung:	n/a	n/a
22	CTCF	chr2:234619933-234620551	GM12878	blood:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
23	CTCF	chr2:234619955-234620472	MCF-7	breast:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
24	SMC3	chr2:234619782-234620633	SK-N-SH	brain:	n/a	chr2:234620246-234620260
25	RAD21	chr2:234619972-234620498	MCF-7	breast:	n/a	chr2:234620248-234620257 chr2:234620242-234620261 chr2:234620244-234620256
26	NR3C1	chr2:234619995-234620400	A549	lung:	n/a	chr2:234620156-234620169
27	BCL3	chr2:234619957-234620684	A549	lung:	n/a	chr2:234620657-234620664 chr2:234620407-234620416
28	RAD21	chr2:234620017-234620402	HepG2	liver:	n/a	chr2:234620248-234620257 chr2:234620242-234620261 chr2:234620244-234620256
29	EP300	chr2:234619843-234620526	A549	lung:	n/a	chr2:234620402-234620416 chr2:234620430-234620446
30	RAD21	chr2:234619940-234620489	A549	lung:	n/a	chr2:234620248-234620257 chr2:234620242-234620261 chr2:234620244-234620256
31	RAD21	chr2:234620036-234620498	H1-hESC	embryonic stem cell:	n/a	chr2:234620248-234620257 chr2:234620242-234620261 chr2:234620244-234620256
32	CTCF	chr2:234620026-234620452	K562	blood:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
33	MAX	chr2:234619563-234620672	A549	lung:	n/a	n/a
34	RAD21	chr2:234619902-234620616	HCT-116	colon:	n/a	chr2:234620248-234620257 chr2:234620242-234620261 chr2:234620244-234620256
35	ZNF263	chr2:234619653-234620533	HEK293-T-REx	kidney:	n/a	chr2:234620340-234620349
36	CTCF	chr2:234619942-234620505	HCT-116	colon:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
37	CTCF	chr2:234620019-234620486	HepG2	liver:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
38	RAD21	chr2:234619965-234620497	HCT-116	colon:	n/a	chr2:234620248-234620257 chr2:234620242-234620261 chr2:234620244-234620256
39	SMC3	chr2:234620008-234620455	Hela-S3	cervix:	n/a	chr2:234620246-234620260
40	REST	chr2:234619948-234620563	A549	lung:	n/a	chr2:234620258-234620267
41	CTCF	chr2:234620019-234620549	MCF-7	breast:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
42	CTCF	chr2:234619987-234620419	H1-hESC	embryonic stem cell:	n/a	chr2:234620245-234620261 chr2:234620246-234620259 chr2:234620246-234620259 chr2:234620244-234620262 chr2:234620239-234620260 chr2:234620247-234620257 chr2:234620250-234620259
43	YY1	chr2:234619779-234620392	A549	lung:	n/a	chr2:234620242-234620256
44	REST	chr2:234619824-234620328	A549	lung:	n/a	chr2:234619845-234619863 chr2:234620258-234620267
45	RAD21	chr2:234620032-234620443	IMR90	lung:	n/a	chr2:234620248-234620257 chr2:234620242-234620261 chr2:234620244-234620256
46	SMC3	chr2:234620030-234620457	GM12878	blood:	n/a	chr2:234620246-234620260
47	RAD21	chr2:234619998-234620544	ECC-1	luminal epithelium:	n/a	chr2:234620248-234620257 chr2:234620242-234620261 chr2:234620244-234620256
48	RAD21	chr2:234619823-234620662	A549	lung:	n/a	chr2:234620248-234620257 chr2:234620242-234620261 chr2:234620244-234620256
49	RAD21	chr2:234619946-234620556	HepG2	liver:	n/a	chr2:234620248-234620257 chr2:234620242-234620261 chr2:234620244-234620256
50	JUND	chr2:234619967-234620495	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:234474046..234476375-chr2:234618981..234621894,3	MCF-7	breast:
2	chr2:234389181..234390135-chr2:234619766..234620786,6	MCF-7	breast:
3	chr2:234386983..234399433-chr2:234613282..234621553,23	MCF-7	breast:
4	chr2:234613252..234614909-chr2:234617932..234620320,3	MCF-7	breast:
5	chr2:234597435..234606028-chr2:234613419..234620116,22	MCF-7	breast:
6	chr2:234599124..234606471-chr2:234613478..234621007,17	MCF-7	breast:
7	chr2:234357834..234358362-chr2:234619860..234620685,2	MCF-7	breast:
8	chr2:234393460..234398388-chr2:234612624..234620814,16	MCF-7	breast:
9	chr2:234366581..234368147-chr2:234619420..234621425,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224814	TF binding region
UGT1A5	TF binding region
UGT1A8	TF binding region
ENSG00000085982	Chromatin interaction
ENSG00000077044	Chromatin interaction
ENSG00000167165	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28898589	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28900391	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6722836	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723506	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv2760615	chr2:234613030-234640233	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv963781	chr2:234618109-234626863	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv876017	chr2:234618243-234626972	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 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	chr2:234615400-234620400	Weak transcription	Pancreas	Pancrea
2	chr2:234617800-234620400	Weak transcription	Esophagus	oesophagus
3	chr2:234617800-234631600	Weak transcription	Gastric	stomach
4	chr2:234618600-234621400	Enhancers	Liver	Liver
5	chr2:234618800-234620400	Enhancers	Hela-S3	cervix
6	chr2:234619600-234620400	Genic enhancers	NHEK	skin
7	chr2:234619600-234620600	Enhancers	Stomach Mucosa	stomach
8	chr2:234619800-234620200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:234619800-234620200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:234619800-234620200	Enhancers	Osteobl	bone
11	chr2:234619800-234620400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:234619800-234620600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:234619800-234620600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:234619800-234623000	Enhancers	Thymus	Thymus
15	chr2:234620000-234620200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:234620000-234620200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr2:234620000-234620400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr2:234620000-234620600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:234620000-234621200	Enhancers	Duodenum Mucosa	Duodenum
20	chr2:234620000-234621400	Enhancers	Small Intestine	intestine
21	chr2:234620000-234621400	Enhancers	A549	lung
22	chr2:234620000-234622200	Enhancers	Fetal Intestine Large	intestine

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