Variant report

Variant	rs73489447
Chromosome Location	chr11:33086431-33086432
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	POLR2A	chr11:33085627-33086665	GM12878	blood:	n/a	n/a
2	SPI1	chr11:33085818-33086531	HL-60	blood:	n/a	chr11:33086187-33086200 chr11:33086203-33086216 chr11:33086205-33086212
3	NFIC	chr11:33086368-33086917	GM12878	blood:	n/a	n/a
4	MTA3	chr11:33086145-33086915	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:33086237-33086520	GM12878	blood:	n/a	n/a
6	MTA3	chr11:33084736-33086808	GM12878	blood:	n/a	n/a
7	EBF1	chr11:33084839-33086634	GM12878	blood:	n/a	chr11:33085741-33085751 chr11:33085740-33085751 chr11:33085741-33085750 chr11:33085739-33085752 chr11:33085741-33085750
8	POLR2A	chr11:33086242-33086521	Hela-S3	cervix:	n/a	n/a
9	IKZF1	chr11:33084740-33086598	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:33086202..33088002-chr11:33090924..33093139,2	K562	blood:
2	chr11:32913653..32915700-chr11:33084774..33087612,2	K562	blood:
3	chr11:33061344..33063655-chr11:33085932..33088755,2	MCF-7	breast:

Variant related genes	Relation type
TCP11L1	TF binding region
ENSG00000060749	Chromatin interaction
ENSG00000176148	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12799448	1.00[AMR][1000 genomes]
rs58721551	1.00[AMR][1000 genomes]
rs60351229	1.00[AMR][1000 genomes]
rs61185762	1.00[AMR][1000 genomes]
rs7113487	1.00[AMR][1000 genomes]
rs7127994	1.00[AMR][1000 genomes]
rs73478929	1.00[AMR][1000 genomes]
rs73478938	1.00[AMR][1000 genomes]
rs73482831	1.00[AMR][1000 genomes]
rs73482832	1.00[AMR][1000 genomes]
rs73482837	1.00[AMR][1000 genomes]
rs73482844	1.00[AMR][1000 genomes]
rs73487358	1.00[AMR][1000 genomes]
rs73487372	1.00[AMR][1000 genomes]
rs73487400	1.00[AMR][1000 genomes]
rs73489430	1.00[AMR][1000 genomes]
rs73489442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489452	1.00[AMR][1000 genomes]
rs73489453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040484	chr11:32951066-33093204	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv2762904	chr11:32969258-33586535	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1041149	chr11:32981164-33496670	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv1053823	chr11:32981164-33533356	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	nsv897194	chr11:32993887-33471804	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv1040572	chr11:33008191-33518964	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv540989	chr11:33008191-33518964	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv1042860	chr11:33008191-33562490	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
9	nsv540990	chr11:33008191-33562490	Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	nsv533840	chr11:33008192-33595324	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active 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	65 gene(s)	inside rSNPs	diseases
11	nsv1051521	chr11:33008435-33239765	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv540991	chr11:33008435-33239765	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	nsv1044478	chr11:33008435-33656273	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
14	nsv897195	chr11:33012493-33559186	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
15	nsv1053344	chr11:33028973-33499346	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	64 gene(s)	inside rSNPs	diseases
16	nsv1046243	chr11:33043155-33439216	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
17	nsv540992	chr11:33043155-33439216	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
18	nsv1050944	chr11:33043155-33656273	Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
19	nsv540993	chr11:33043155-33656273	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
20	nsv529212	chr11:33053073-33641691	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
21	nsv869418	chr11:33053073-33662479	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
22	nsv467786	chr11:33065394-33476703	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
23	nsv553994	chr11:33065394-33476703	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
24	nsv521130	chr11:33068389-33602913	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	54 gene(s)	inside rSNPs	diseases
25	nsv1049756	chr11:33075082-33496670	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
26	nsv1053959	chr11:33075082-33565833	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
27	nsv540994	chr11:33075082-33565833	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33062000-33093600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:33062600-33094200	Weak transcription	Fetal Heart	heart
3	chr11:33062800-33107400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:33072600-33098800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:33075000-33130200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:33076000-33129600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:33076600-33104600	Strong transcription	Fetal Brain Female	brain
8	chr11:33078200-33109000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr11:33078600-33109600	Strong transcription	Dnd41	blood
10	chr11:33079400-33110800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:33081000-33087800	Strong transcription	Fetal Lung	lung
12	chr11:33081000-33099000	Weak transcription	HUVEC	blood vessel
13	chr11:33081400-33100800	Strong transcription	Brain Germinal Matrix	brain
14	chr11:33082000-33090000	Weak transcription	Fetal Kidney	kidney
15	chr11:33082200-33086600	Enhancers	Rectal Smooth Muscle	rectum
16	chr11:33082200-33086800	Genic enhancers	Osteobl	bone
17	chr11:33082200-33094600	Weak transcription	Small Intestine	intestine
18	chr11:33082400-33089800	Weak transcription	Fetal Brain Male	brain
19	chr11:33082800-33086600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:33083000-33093200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:33083200-33086600	Enhancers	Colon Smooth Muscle	Colon
22	chr11:33083200-33089600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:33083200-33089800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:33083400-33086600	Enhancers	HSMMtube	muscle
25	chr11:33083400-33087000	Weak transcription	Stomach Mucosa	stomach
26	chr11:33083400-33087400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:33083400-33087400	Weak transcription	Gastric	stomach
28	chr11:33083400-33087600	Weak transcription	Pancreas	Pancrea
29	chr11:33083400-33088400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:33083400-33089000	Weak transcription	Colonic Mucosa	Colon
31	chr11:33083400-33089800	Weak transcription	NH-A	brain
32	chr11:33083600-33087400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:33083600-33087400	Weak transcription	Right Ventricle	heart
34	chr11:33083600-33087600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:33083600-33087800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:33083600-33102000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:33083800-33087800	Genic enhancers	A549	lung
38	chr11:33084000-33087200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr11:33084000-33087200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr11:33084000-33087400	Weak transcription	HepG2	liver
41	chr11:33084200-33086600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:33084200-33086600	Enhancers	Primary hematopoietic stem cells	blood
43	chr11:33084200-33086800	Enhancers	Thymus	Thymus
44	chr11:33084200-33087200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:33084200-33090200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:33084200-33097200	Weak transcription	Hela-S3	cervix
47	chr11:33084400-33086800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr11:33084400-33087400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:33084400-33090000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr11:33084600-33087000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links