Variant report

Variant	rs73489442
Chromosome Location	chr11:33085384-33085385
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	ATF2	chr11:33084702-33085604	GM12878	blood:	n/a	n/a
2	FOXM1	chr11:33084653-33085490	GM12878	blood:	n/a	n/a
3	ATF2	chr11:33084755-33085573	GM12878	blood:	n/a	n/a
4	NFIC	chr11:33084615-33085879	GM12878	blood:	n/a	n/a
5	FOXM1	chr11:33084709-33085514	GM12878	blood:	n/a	n/a
6	CHD2	chr11:33084916-33085517	GM12878	blood:	n/a	n/a
7	NFIC	chr11:33084696-33085610	GM12878	blood:	n/a	n/a
8	RELA	chr11:33084838-33085393	GM12891	blood:	n/a	n/a
9	BCL3	chr11:33084858-33085479	GM12878	blood:	n/a	chr11:33085192-33085201
10	MEF2A	chr11:33084896-33085487	GM12878	blood:	n/a	chr11:33085203-33085224
11	FOSL2	chr11:33084627-33085409	SK-N-SH	brain:	n/a	chr11:33085317-33085326 chr11:33085180-33085190 chr11:33085180-33085190
12	EP300	chr11:33084883-33085409	GM12878	blood:	n/a	n/a
13	TCF12	chr11:33084592-33085481	SK-N-SH	brain:	n/a	n/a
14	RELA	chr11:33084807-33085459	GM18505	blood:	n/a	n/a
15	RUNX3	chr11:33084701-33085558	GM12878	blood:	n/a	chr11:33085049-33085058 chr11:33085049-33085058
16	CREB1	chr11:33084790-33085461	GM12878	blood:	n/a	n/a
17	SPI1	chr11:33084670-33085562	HL-60	blood:	n/a	chr11:33085318-33085331
18	MEF2A	chr11:33084812-33085519	GM12878	blood:	n/a	chr11:33085496-33085512 chr11:33085497-33085511 chr11:33085490-33085511 chr11:33085203-33085224 chr11:33085492-33085513 chr11:33085492-33085513 chr11:33085498-33085509 chr11:33085499-33085510 chr11:33085499-33085508 chr11:33085496-33085511
19	RELA	chr11:33084882-33085419	GM12878	blood:	n/a	n/a
20	TBL1XR1	chr11:33084861-33085805	GM12878	blood:	n/a	n/a
21	MTA3	chr11:33084736-33086808	GM12878	blood:	n/a	n/a
22	EBF1	chr11:33084839-33086634	GM12878	blood:	n/a	chr11:33085741-33085751 chr11:33085740-33085751 chr11:33085741-33085750 chr11:33085739-33085752 chr11:33085741-33085750
23	CUX1	chr11:33084885-33085867	GM12878	blood:	n/a	n/a
24	GATA3	chr11:33084675-33085456	SK-N-SH	brain:	n/a	chr11:33085268-33085278
25	EP300	chr11:33084803-33085484	GM12878	blood:	n/a	n/a
26	MEF2C	chr11:33084755-33085483	GM12878	blood:	n/a	chr11:33085203-33085224
27	IRF3	chr11:33084917-33085414	GM12878	blood:	n/a	n/a
28	BCLAF1	chr11:33084829-33085455	GM12878	blood:	n/a	chr11:33085192-33085201
29	RUNX3	chr11:33084816-33085653	GM12878	blood:	n/a	chr11:33085049-33085058 chr11:33085049-33085058
30	IKZF1	chr11:33084740-33086598	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32913653..32915700-chr11:33084774..33087612,2	K562	blood:
2	chr11:33078933..33081446-chr11:33084163..33085979,2	K562	blood:

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]
rs73489447	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:125 , 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	chr11:33062200-33085400	Weak transcription	Psoas Muscle	Psoas
3	chr11:33062600-33094200	Weak transcription	Fetal Heart	heart
4	chr11:33062800-33107400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:33067800-33085800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:33072600-33098800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:33074400-33085400	Strong transcription	Fetal Muscle Leg	muscle
8	chr11:33075000-33130200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:33076000-33129600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:33076400-33085800	Strong transcription	Left Ventricle	heart
11	chr11:33076600-33104600	Strong transcription	Fetal Brain Female	brain
12	chr11:33078000-33085600	Strong transcription	Placenta	Placenta
13	chr11:33078200-33109000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr11:33078400-33086200	Strong transcription	Fetal Muscle Trunk	muscle
15	chr11:33078600-33109600	Strong transcription	Dnd41	blood
16	chr11:33079000-33085600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:33079000-33085800	Strong transcription	Fetal Stomach	stomach
18	chr11:33079400-33085600	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:33079400-33110800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:33079800-33085400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:33081000-33087800	Strong transcription	Fetal Lung	lung
22	chr11:33081000-33099000	Weak transcription	HUVEC	blood vessel
23	chr11:33081400-33100800	Strong transcription	Brain Germinal Matrix	brain
24	chr11:33082000-33090000	Weak transcription	Fetal Kidney	kidney
25	chr11:33082200-33085600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:33082200-33086000	Weak transcription	Aorta	Aorta
27	chr11:33082200-33086600	Enhancers	Rectal Smooth Muscle	rectum
28	chr11:33082200-33086800	Genic enhancers	Osteobl	bone
29	chr11:33082200-33094600	Weak transcription	Small Intestine	intestine
30	chr11:33082400-33086000	Enhancers	HMEC	breast
31	chr11:33082400-33086400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:33082400-33089800	Weak transcription	Fetal Brain Male	brain
33	chr11:33082800-33086000	Weak transcription	Esophagus	oesophagus
34	chr11:33082800-33086600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:33083000-33093200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:33083200-33085400	Weak transcription	Brain Angular Gyrus	brain
37	chr11:33083200-33086000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:33083200-33086600	Enhancers	Colon Smooth Muscle	Colon
39	chr11:33083200-33089600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:33083200-33089800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:33083400-33085400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:33083400-33085400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:33083400-33085600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:33083400-33085800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:33083400-33085800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:33083400-33086000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:33083400-33086000	Weak transcription	NHLF	lung
48	chr11:33083400-33086200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:33083400-33086400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr11:33083400-33086600	Enhancers	HSMMtube	muscle

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