Variant report

Variant	rs73470722
Chromosome Location	chr11:58342763-58342764
allele	A/C
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	POLR2A	chr11:58341945-58343563	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:58342402-58348892	K562	blood:	n/a	n/a
3	WRNIP1	chr11:58342524-58343404	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:58342757-58347555	Raji	blood:	n/a	n/a
5	RUNX3	chr11:58342654-58343582	GM12878	blood:	n/a	n/a
6	EP300	chr11:58342140-58342921	SK-N-SH	brain:	n/a	chr11:58342849-58342863
7	POLR2A	chr11:58340815-58343617	GM12878	blood:	n/a	n/a
8	RAD21	chr11:58342755-58343021	GM12878	blood:	n/a	n/a
9	NRF1	chr11:58342447-58342772	GM12878	blood:	n/a	n/a
10	MTA3	chr11:58342551-58346632	GM12878	blood:	n/a	n/a
11	MAX	chr11:58342754-58343514	NB4	blood:	n/a	n/a
12	POLR2A	chr11:58342679-58343641	HL-60	blood:	n/a	n/a
13	NFIC	chr11:58342232-58342775	SK-N-SH	brain:	n/a	n/a
14	PBX3	chr11:58342331-58342874	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr11:58342748-58347495	GM19099	blood:	n/a	n/a
16	FOS	chr11:58342222-58342775	MCF10A-Er-Src	breast:	n/a	chr11:58342453-58342463 chr11:58342453-58342463 chr11:58342453-58342463 chr11:58342587-58342601 chr11:58342454-58342462 chr11:58342453-58342463 chr11:58342455-58342466
17	POLR2A	chr11:58341911-58343484	GM12892	blood:	n/a	n/a
18	CTCF	chr11:58342751-58343094	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:58342719-58343639	GM12892	blood:	n/a	n/a
20	CEBPB	chr11:58342640-58343644	GM12878	blood:	n/a	chr11:58343532-58343543 chr11:58343528-58343541 chr11:58343528-58343539 chr11:58343532-58343543 chr11:58343528-58343539
21	FOXM1	chr11:58342740-58343840	GM12878	blood:	n/a	n/a
22	STAT3	chr11:58342705-58344019	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:58341968-58347772	GM12892	blood:	n/a	n/a
24	POLR2A	chr11:58340783-58347750	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:58342069-58343549	GM12891	blood:	n/a	n/a
26	RCOR1	chr11:58342707-58343562	GM12878	blood:	n/a	n/a
27	STAT5A	chr11:58342674-58343530	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:58342635-58343500	GM12891	blood:	n/a	n/a
29	TCF12	chr11:58342218-58342789	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr11:58342707-58343507	GM15510	blood:	n/a	n/a
31	FOSL2	chr11:58342172-58342771	SK-N-SH	brain:	n/a	chr11:58342453-58342463 chr11:58342453-58342463 chr11:58342453-58342463 chr11:58342587-58342601 chr11:58342454-58342462 chr11:58342453-58342463 chr11:58342455-58342466
32	POLR2A	chr11:58342761-58343441	HL-60	blood:	n/a	n/a
33	RAD21	chr11:58342713-58342992	GM12878	blood:	n/a	n/a
34	POU2F2	chr11:58342700-58343555	GM12878	blood:	n/a	chr11:58343480-58343489 chr11:58343479-58343489 chr11:58343479-58343489 chr11:58343525-58343546 chr11:58343481-58343488
35	NFIC	chr11:58342628-58344039	GM12878	blood:	n/a	n/a
36	FOXM1	chr11:58342659-58343573	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:58340797-58347609	GM12878	blood:	n/a	n/a
38	SPI1	chr11:58342741-58343687	HL-60	blood:	n/a	chr11:58343387-58343400 chr11:58343070-58343079 chr11:58343389-58343396 chr11:58343386-58343399
39	CHD1	chr11:58340762-58343698	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:58342754-58343520	GM18951	blood:	n/a	n/a
41	NFIC	chr11:58342102-58343027	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr11:58341981-58343507	GM12891	blood:	n/a	n/a
43	POLR2A	chr11:58340330-58343582	GM12892	blood:	n/a	n/a
44	BCLAF1	chr11:58342525-58343507	GM12878	blood:	n/a	chr11:58343111-58343120
45	POLR2A	chr11:58340757-58348164	GM12891	blood:	n/a	n/a
46	POLR2A	chr11:58340360-58347719	GM12892	blood:	n/a	n/a
47	POLR2A	chr11:58342626-58348333	IMR90	lung:	n/a	n/a
48	TCF12	chr11:58342136-58342924	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr11:58340732-58343627	GM18505	blood:	n/a	n/a
50	PML	chr11:58342171-58343848	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:58340817..58343050-chr11:58387964..58391771,3	K562	blood:
2	chr11:58341513..58344415-chr11:58344785..58347272,2	MCF-7	breast:
3	chr11:58340835..58343059-chr11:58344433..58346364,2	MCF-7	breast:

Variant related genes	Relation type
ZFP91	TF binding region
ZFP91-CNTF	TF binding region
ENSG00000186660	Chromatin interaction
ENSG00000255073	Chromatin interaction
ENSG00000242689	Chromatin interaction
ENSG00000110031	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs58433279	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58454093	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59856964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73470711	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73470713	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73470723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73470726	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73470731	1.00[AMR][1000 genomes]
rs73470732	1.00[AMR][1000 genomes]
rs73470748	1.00[AMR][1000 genomes]
rs73470749	1.00[AMR][1000 genomes]
rs73470751	1.00[AMR][1000 genomes]
rs73470756	1.00[AMR][1000 genomes]
rs73470758	0.85[AMR][1000 genomes]
rs73472048	0.83[AMR][1000 genomes]
rs73485922	0.85[AMR][1000 genomes]
rs73485926	0.85[AMR][1000 genomes]
rs73485934	0.85[AMR][1000 genomes]
rs73485945	1.00[AMR][1000 genomes]
rs73487714	1.00[AMR][1000 genomes]
rs73487735	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487737	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487770	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv528190	chr11:58336620-58347765	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58318400-58344800	Weak transcription	Fetal Brain Male	brain
2	chr11:58318600-58344400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:58319200-58343000	Weak transcription	Fetal Brain Female	brain
4	chr11:58321800-58345000	Weak transcription	Ovary	ovary
5	chr11:58322400-58344200	Weak transcription	Fetal Lung	lung
6	chr11:58329400-58344400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:58330200-58343000	Weak transcription	Fetal Kidney	kidney
8	chr11:58330600-58345000	Weak transcription	Gastric	stomach
9	chr11:58337200-58343800	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:58337600-58343000	Weak transcription	Spleen	Spleen
11	chr11:58337600-58343200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:58337600-58343800	Weak transcription	Aorta	Aorta
13	chr11:58337600-58345000	Weak transcription	Lung	lung
14	chr11:58337800-58343800	Weak transcription	Fetal Intestine Small	intestine
15	chr11:58338200-58343800	Weak transcription	Fetal Intestine Large	intestine
16	chr11:58338200-58344200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:58338800-58343600	Active TSS	GM12878-XiMat	blood
18	chr11:58338800-58344200	Weak transcription	Fetal Stomach	stomach
19	chr11:58339400-58344200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:58339800-58345000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr11:58340200-58343800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr11:58340200-58344000	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr11:58340400-58345200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr11:58340600-58342800	Weak transcription	Esophagus	oesophagus
25	chr11:58340600-58343200	Active TSS	Duodenum Mucosa	Duodenum
26	chr11:58340600-58343600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr11:58340600-58344200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:58340600-58344600	Enhancers	Fetal Heart	heart
29	chr11:58340800-58343400	Flanking Active TSS	NHEK	skin
30	chr11:58340800-58343400	Flanking Active TSS	Osteobl	bone
31	chr11:58340800-58343600	Active TSS	Primary T cells fromperipheralblood	blood
32	chr11:58340800-58344200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr11:58340800-58344800	Enhancers	Colon Smooth Muscle	Colon
34	chr11:58340800-58344800	Flanking Active TSS	Dnd41	blood
35	chr11:58341000-58343800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr11:58341000-58343800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:58341000-58344000	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr11:58341000-58344600	Flanking Active TSS	NHDF-Ad	bronchial
39	chr11:58341000-58345400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr11:58341200-58342800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:58341200-58343000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:58341200-58343600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:58341400-58342800	Enhancers	Psoas Muscle	Psoas
44	chr11:58341400-58343000	Enhancers	A549	lung
45	chr11:58341400-58343400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr11:58341400-58344200	Active TSS	Colonic Mucosa	Colon
47	chr11:58341600-58342800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:58341600-58342800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:58341600-58342800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr11:58341600-58342800	Weak transcription	Placenta	Placenta

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