Variant report

Variant	rs73489913
Chromosome Location	chr11:75526902-75526903
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	MAX	chr11:75525304-75526943	K562	blood:	n/a	n/a
2	IKZF1	chr11:75526729-75527354	GM12878	blood:	n/a	n/a
3	MXI1	chr11:75525324-75528512	GM12878	blood:	n/a	chr11:75526980-75526989 chr11:75525812-75525827 chr11:75525810-75525825
4	POLR2A	chr11:75523515-75528309	GM12892	blood:	n/a	n/a
5	EBF1	chr11:75526670-75527004	GM12878	blood:	n/a	chr11:75526828-75526839
6	POLR2A	chr11:75525408-75526999	HUVEC	blood vessel:	n/a	n/a
7	ZBTB7A	chr11:75525598-75527073	K562	blood:	n/a	chr11:75526167-75526174
8	CHD2	chr11:75525474-75526983	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:75525414-75527015	K562	blood:	n/a	n/a
10	POLR2A	chr11:75525302-75527172	GM12892	blood:	n/a	n/a
11	REST	chr11:75525188-75527305	H1-neurons	neurons:	n/a	n/a
12	BRCA1	chr11:75526570-75527121	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:75525357-75527092	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr11:75525392-75526975	HepG2	liver:	n/a	n/a
15	UBTF	chr11:75525963-75527029	K562	blood:	n/a	n/a
16	YY1	chr11:75525730-75526922	H1-hESC	embryonic stem cell:	n/a	chr11:75526395-75526404 chr11:75526392-75526401
17	POLR2A	chr11:75525931-75528673	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:75525432-75527100	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr11:75525962-75527113	GM12891	blood:	n/a	n/a
20	POLR2A	chr11:75525391-75528411	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:75525463-75526925	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr11:75525354-75527231	GM19099	blood:	n/a	n/a
23	POLR2A	chr11:75526055-75527182	GM12891	blood:	n/a	n/a
24	MXI1	chr11:75524362-75528392	SK-N-SH	brain:	n/a	chr11:75526980-75526989 chr11:75525812-75525827 chr11:75525810-75525825
25	POLR2A	chr11:75525469-75527045	GM18526	blood:	n/a	n/a
26	CCNT2	chr11:75525615-75527034	K562	blood:	n/a	chr11:75525933-75525942
27	POLR2A	chr11:75526856-75527487	K562	blood:	n/a	n/a
28	YY1	chr11:75525940-75526960	K562	blood:	n/a	chr11:75526395-75526404 chr11:75526392-75526401
29	TAF1	chr11:75526902-75527074	GM12892	blood:	n/a	n/a
30	POLR2A	chr11:75525317-75527115	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:75525426-75527113	GM19193	blood:	n/a	n/a
32	CHD2	chr11:75525629-75526937	K562	blood:	n/a	n/a
33	FOXM1	chr11:75525342-75527075	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:75525400-75527079	GM12878	blood:	n/a	n/a
35	PML	chr11:75525466-75528587	GM12878	blood:	n/a	chr11:75528343-75528351
36	POLR2A	chr11:75525281-75528491	GM12878	blood:	n/a	n/a
37	MAX	chr11:75525460-75527061	NB4	blood:	n/a	n/a
38	POLR2A	chr11:75526007-75527104	GM12891	blood:	n/a	n/a
39	CHD1	chr11:75525667-75527428	GM12878	blood:	n/a	n/a
40	SMARCC1	chr11:75526333-75527109	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr11:75525394-75527417	GM12892	blood:	n/a	n/a
42	MXI1	chr11:75524701-75528291	IMR90	lung:	n/a	chr11:75526980-75526989 chr11:75525812-75525827 chr11:75525810-75525825
43	ELF1	chr11:75525384-75527022	GM12878	blood:	n/a	chr11:75526395-75526404
44	POLR2A	chr11:75525432-75527096	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:75526875-75527027	MCF10A-Er-Src	breast:	n/a	n/a
46	ZNF143	chr11:75525518-75527058	GM12878	blood:	n/a	n/a
47	CHD2	chr11:75525559-75526960	GM12878	blood:	n/a	n/a
48	EBF1	chr11:75526607-75527165	GM12878	blood:	n/a	chr11:75526828-75526839
49	POLR2A	chr11:75524235-75528279	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr11:75523862-75528580	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75526830..75528448-chr11:75885826..75888721,2	K562	blood:
2	chr11:75270417..75273210-chr11:75525682..75528337,2	MCF-7	breast:
3	chr11:75521352..75523071-chr11:75525241..75527592,2	MCF-7	breast:
4	chr11:75523255..75528239-chr11:75549898..75558151,19	MCF-7	breast:
5	chr11:74202987..74205917-chr11:75525143..75527102,2	MCF-7	breast:
6	chr11:75525985..75528745-chr11:75547051..75549081,2	MCF-7	breast:
7	chr11:75511055..75516378-chr11:75524946..75527964,8	MCF-7	breast:
8	chr11:75501690..75503528-chr11:75525644..75528441,2	K562	blood:
9	chr11:75522755..75529746-chr11:75549090..75554652,13	MCF-7	breast:
10	chr11:75520218..75523701-chr11:75523941..75527681,4	K562	blood:
11	chr11:75479619..75482168-chr11:75525507..75528188,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255507	TF binding region
ENSG00000255507	Chromatin interaction
ENSG00000149257	Chromatin interaction
ENSG00000199362	Chromatin interaction
ENSG00000254814	Chromatin interaction
ENSG00000254837	Chromatin interaction
ENSG00000198382	Chromatin interaction
ENSG00000175536	Chromatin interaction
ENSG00000247867	Chromatin interaction
ENSG00000062282	Chromatin interaction
ENSG00000077514	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs57784548	1.00[AMR][1000 genomes]
rs58245876	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58725839	1.00[AMR][1000 genomes]
rs59635776	1.00[AMR][1000 genomes]
rs60032678	1.00[AMR][1000 genomes]
rs60841430	1.00[AMR][1000 genomes]
rs7119779	1.00[AMR][1000 genomes]
rs73489916	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489924	1.00[AMR][1000 genomes]
rs73489925	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504534	1.00[AMR][1000 genomes]
rs73504548	1.00[AMR][1000 genomes]
rs73504568	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504574	1.00[AMR][1000 genomes]
rs73504580	1.00[AMR][1000 genomes]
rs73504581	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504584	1.00[AMR][1000 genomes]
rs73504586	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504588	1.00[AMR][1000 genomes]
rs73504598	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506507	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506509	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506512	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7927703	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv832212	chr11:75524993-75725623	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr11:75525000-75527200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:75525000-75527200	Active TSS	Fetal Brain Female	brain
3	chr11:75525200-75527200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:75525200-75527200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:75525200-75527200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr11:75525200-75527400	Active TSS	H1 Cell Line	embryonic stem cell
7	chr11:75525200-75527400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:75525200-75527400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:75525200-75527400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:75525200-75527400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:75525200-75527400	Active TSS	Colonic Mucosa	Colon
12	chr11:75525200-75527400	Active TSS	Right Ventricle	heart
13	chr11:75525200-75527600	Active TSS	H9 Cell Line	embryonic stem cell
14	chr11:75525200-75527600	Active TSS	Left Ventricle	heart
15	chr11:75525200-75527600	Active TSS	Psoas Muscle	Psoas
16	chr11:75525200-75527600	Active TSS	Right Atrium	heart
17	chr11:75525200-75528000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr11:75525400-75527000	Bivalent/Poised TSS	HepG2	liver
19	chr11:75525400-75527200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:75525400-75527200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:75525400-75527200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:75525400-75527200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr11:75525400-75527200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr11:75525400-75527200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:75525400-75527200	Active TSS	Fetal Kidney	kidney
26	chr11:75525400-75527200	Active TSS	Small Intestine	intestine
27	chr11:75525400-75527400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:75525400-75527400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr11:75525400-75527400	Active TSS	Fetal Intestine Small	intestine
30	chr11:75525400-75527600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:75525400-75527600	Active TSS	Gastric	stomach
32	chr11:75525400-75527600	Active TSS	Ovary	ovary
33	chr11:75525400-75527800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr11:75525400-75528400	Active TSS	Lung	lung
35	chr11:75525600-75527000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:75525600-75527000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:75525600-75527000	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr11:75525600-75527000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr11:75525600-75527000	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr11:75525600-75527000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:75525600-75527000	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr11:75525600-75527000	Active TSS	Brain Substantia Nigra	brain
43	chr11:75525600-75527000	Active TSS	Placenta Amnion	Placenta Amnion
44	chr11:75525600-75527000	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr11:75525600-75527000	Active TSS	Hela-S3	cervix
46	chr11:75525600-75527200	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr11:75525600-75527200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:75525600-75527200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:75525600-75527200	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr11:75525600-75527200	Active TSS	Brain Angular Gyrus	brain

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