Variant report

Variant	rs58371000
Chromosome Location	chr11:5705941-5705942
allele	A/G
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	chr11:5705920-5706070	NHEK	skin:	n/a	chr11:5705994-5706007
2	GATA1	chr11:5705710-5706836	PBDE	blood:	n/a	chr11:5706018-5706025
3	POLR2A	chr11:5705819-5706508	GM12892	blood:	n/a	n/a
4	YY1	chr11:5705905-5706440	GM12892	blood:	n/a	n/a
5	RAD21	chr11:5705749-5706181	H1-hESC	embryonic stem cell:	n/a	n/a
6	EGR1	chr11:5705840-5706393	K562	blood:	n/a	chr11:5706060-5706073 chr11:5706059-5706073 chr11:5706057-5706071 chr11:5706060-5706073 chr11:5706059-5706074 chr11:5706061-5706070 chr11:5706060-5706073 chr11:5706055-5706077 chr11:5706061-5706071 chr11:5706060-5706073
7	CTCF	chr11:5705739-5706470	GM12878	blood:	n/a	chr11:5705994-5706007
8	PML	chr11:5705922-5706501	GM12878	blood:	n/a	chr11:5706283-5706291
9	JUND	chr11:5705838-5706660	K562	blood:	n/a	chr11:5706370-5706378
10	TEAD4	chr11:5705824-5706499	K562	blood:	n/a	n/a
11	POLR2A	chr11:5705888-5706399	H1-hESC	embryonic stem cell:	n/a	n/a
12	IRF4	chr11:5705833-5706326	GM12878	blood:	n/a	n/a
13	CREB1	chr11:5705845-5706640	HepG2	liver:	n/a	n/a
14	CTCF	chr11:5705860-5706010	GM12875	blood:	n/a	chr11:5705994-5706007
15	CUX1	chr11:5705816-5706478	K562	blood:	n/a	n/a
16	POLR2A	chr11:5705887-5706590	U87	brain:	n/a	n/a
17	POLR2A	chr11:5705798-5706635	GM12892	blood:	n/a	n/a
18	CTCF	chr11:5705920-5706070	NHLF	lung:	n/a	chr11:5705994-5706007
19	RELA	chr11:5705574-5706758	GM10847	blood:	n/a	n/a
20	RCOR1	chr11:5705902-5706392	K562	blood:	n/a	n/a
21	FOXM1	chr11:5705761-5706600	GM12878	blood:	n/a	chr11:5706457-5706465
22	POLR2A	chr11:5705807-5706653	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr11:5705881-5706596	U87	brain:	n/a	n/a
24	TBL1XR1	chr11:5705794-5706617	GM12878	blood:	n/a	n/a
25	GTF2F1	chr11:5705621-5706610	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr11:5705931-5706088	H1-hESC	embryonic stem cell:	n/a	chr11:5705994-5706007
27	CTCF	chr11:5705895-5706090	ProgFib	skin:	n/a	chr11:5705994-5706007
28	CTCF	chr11:5705940-5706090	NHEK	skin:	n/a	chr11:5705994-5706007
29	YY1	chr11:5705886-5706102	GM12891	blood:	n/a	n/a
30	IKZF1	chr11:5705921-5706569	GM12878	blood:	n/a	chr11:5706448-5706460
31	GATA2	chr11:5705806-5706527	HUVEC	blood vessel:	n/a	chr11:5706018-5706025
32	POLR2A	chr11:5705886-5706509	K562	blood:	n/a	n/a
33	CTCF	chr11:5705907-5706095	MCF-7	breast:	n/a	chr11:5705994-5706007
34	RAD21	chr11:5705813-5706165	HepG2	liver:	n/a	n/a
35	POU2F2	chr11:5705868-5706552	GM12891	blood:	n/a	n/a
36	SMC3	chr11:5705664-5706262	K562	blood:	n/a	n/a
37	JUND	chr11:5705917-5706695	SK-N-SH	brain:	n/a	chr11:5706370-5706378
38	EBF1	chr11:5705766-5706649	GM12878	blood:	n/a	n/a
39	JUN	chr11:5705823-5706646	K562	blood:	n/a	chr11:5706370-5706378
40	RCOR1	chr11:5705662-5706520	GM12878	blood:	n/a	n/a
41	RAD21	chr11:5705737-5706266	A549	lung:	n/a	n/a
42	CTCF	chr11:5705787-5706170	A549	lung:	n/a	chr11:5705994-5706007
43	MAX	chr11:5705849-5706678	SK-N-SH	brain:	n/a	n/a
44	CTCF	chr11:5705902-5706091	GM13976	blood:	n/a	chr11:5705994-5706007
45	UBTF	chr11:5705604-5706425	K562	blood:	n/a	n/a
46	CTCF	chr11:5705800-5705950	A549	lung:	n/a	n/a
47	TBL1XR1	chr11:5705652-5706492	K562	blood:	n/a	n/a
48	NFIC	chr11:5705792-5706452	GM12878	blood:	n/a	n/a
49	E2F4	chr11:5705935-5706478	GM12878	blood:	n/a	chr11:5705978-5705987
50	CTCF	chr11:5705940-5706090	HPF	lung:	n/a	chr11:5705994-5706007

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5523660..5528079-chr11:5704615..5707879,4	K562	blood:
2	chr11:5700658..5702927-chr11:5704276..5706133,2	K562	blood:
3	11:5033143-5038367..11:5700314-5707362	K562	blood:
4	11:4801044-4820112..11:5700314-5707362	H1-hESC	embryonic stem cell:	embryo
5	11:4988858-5002113..11:5700314-5707362	Hela-S3	cervix:
6	chr11:5524818..5527723-chr11:5704615..5707499,2	K562	blood:

Variant related genes	Relation type
TRIM22	TF binding region
TRIM5	TF binding region
ENSG00000196565	Chromatin interaction
ENSG00000231070	Chromatin interaction
ENSG00000225003	Chromatin interaction
ENSG00000167355	Chromatin interaction
ENSG00000132256	Chromatin interaction
ENSG00000213931	Chromatin interaction
ENSG00000176951	Chromatin interaction
ENSG00000224300	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1498554	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16934317	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28693624	1.00[EUR][1000 genomes]
rs57817164	1.00[EUR][1000 genomes]
rs57856328	1.00[EUR][1000 genomes]
rs59253967	1.00[EUR][1000 genomes]
rs59496074	1.00[EUR][1000 genomes]
rs59728026	1.00[AMR][1000 genomes]
rs73400351	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers 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 miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
10	nsv896948	chr11:5701281-5719667	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5704600-5706600	Active TSS	Colonic Mucosa	Colon
2	chr11:5704600-5706800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:5704600-5706800	Active TSS	Stomach Smooth Muscle	stomach
4	chr11:5704800-5706600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr11:5705000-5706400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:5705000-5706400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:5705000-5706400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:5705000-5706400	Active TSS	Colon Smooth Muscle	Colon
9	chr11:5705000-5706400	Active TSS	Fetal Lung	lung
10	chr11:5705000-5706400	Active TSS	Pancreas	Pancrea
11	chr11:5705000-5706400	Active TSS	NHLF	lung
12	chr11:5705000-5706600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr11:5705000-5706600	Active TSS	Fetal Intestine Small	intestine
14	chr11:5705000-5706600	Active TSS	Thymus	Thymus
15	chr11:5705000-5706800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:5705000-5706800	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr11:5705200-5706000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr11:5705200-5706000	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr11:5705200-5706000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr11:5705200-5706000	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr11:5705200-5706000	Flanking Active TSS	HUVEC	blood vessel
22	chr11:5705200-5706200	Active TSS	Fetal Muscle Trunk	muscle
23	chr11:5705200-5706400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:5705200-5706400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:5705200-5706400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:5705200-5706400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:5705200-5706400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:5705200-5706400	Active TSS	Fetal Intestine Large	intestine
29	chr11:5705200-5706400	Active TSS	Lung	lung
30	chr11:5705200-5706400	Active TSS	Right Ventricle	heart
31	chr11:5705200-5706400	Active TSS	HSMM	muscle
32	chr11:5705200-5706600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:5705200-5706600	Active TSS	Liver	Liver
34	chr11:5705200-5706600	Active TSS	Brain Angular Gyrus	brain
35	chr11:5705200-5706600	Active TSS	Fetal Stomach	stomach
36	chr11:5705200-5706600	Active TSS	Small Intestine	intestine
37	chr11:5705200-5706600	Active TSS	A549	lung
38	chr11:5705200-5706800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:5705200-5706800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr11:5705200-5706800	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr11:5705200-5706800	Active TSS	GM12878-XiMat	blood
42	chr11:5705400-5706000	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr11:5705400-5706000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:5705400-5706000	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr11:5705400-5706000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:5705400-5706000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:5705400-5706000	Flanking Active TSS	Fetal Heart	heart
48	chr11:5705400-5706000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr11:5705400-5706000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr11:5705400-5706000	Flanking Active TSS	HSMMtube	muscle

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