Variant report

Variant	rs11607028
Chromosome Location	chr11:63719621-63719622
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	MAZ	chr11:63719167-63719754	GM12878	blood:	n/a	n/a
2	ATF2	chr11:63719292-63719704	GM12878	blood:	n/a	n/a
3	EBF1	chr11:63719114-63719688	GM12878	blood:	n/a	chr11:63719271-63719284 chr11:63719271-63719282 chr11:63719273-63719282
4	ATF2	chr11:63719266-63720002	GM12878	blood:	n/a	n/a
5	SP1	chr11:63719274-63719699	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:63719365-63720216	GM12878	blood:	n/a	n/a
7	CHD2	chr11:63719317-63719767	GM12878	blood:	n/a	n/a
8	POU2F2	chr11:63719289-63720033	GM12878	blood:	n/a	n/a
9	POU2F2	chr11:63719381-63719989	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:63719370-63720081	GM12878	blood:	n/a	n/a
11	EP300	chr11:63719344-63719692	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:63719378-63719882	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:63719285-63720262	GM12892	blood:	n/a	n/a
14	ELK1	chr11:63719432-63720047	GM12878	blood:	n/a	n/a
15	PML	chr11:63719442-63719679	GM12878	blood:	n/a	n/a
16	WRNIP1	chr11:63719201-63719845	GM12878	blood:	n/a	n/a
17	NFYB	chr11:63719499-63719797	GM12878	blood:	n/a	n/a
18	CHD1	chr11:63719319-63719944	GM12878	blood:	n/a	n/a
19	NFATC1	chr11:63719257-63719804	GM12878	blood:	n/a	n/a
20	RUNX3	chr11:63719093-63720159	GM12878	blood:	n/a	n/a
21	TBP	chr11:63719371-63719816	GM12878	blood:	n/a	n/a
22	NFIC	chr11:63719217-63719761	GM12878	blood:	n/a	n/a
23	SPI1	chr11:63719536-63719741	GM12878	blood:	n/a	n/a
24	ELF1	chr11:63719378-63720338	GM12878	blood:	n/a	n/a
25	EP300	chr11:63719389-63720060	GM12878	blood:	n/a	n/a
26	MAX	chr11:63719327-63719784	NB4	blood:	n/a	n/a
27	MTA3	chr11:63719226-63720169	GM12878	blood:	n/a	n/a
28	PML	chr11:63719214-63719963	GM12878	blood:	n/a	n/a
29	RCOR1	chr11:63719393-63719681	GM12878	blood:	n/a	n/a
30	SPI1	chr11:63719414-63719805	GM12891	blood:	n/a	n/a
31	POLR2A	chr11:63719330-63719840	GM12892	blood:	n/a	n/a
32	POLR2A	chr11:63719270-63719804	GM12878	blood:	n/a	n/a
33	EBF1	chr11:63719082-63719820	GM12878	blood:	n/a	chr11:63719271-63719284 chr11:63719271-63719282 chr11:63719273-63719282
34	BHLHE40	chr11:63719388-63719687	GM12878	blood:	n/a	n/a
35	IKZF1	chr11:63719301-63720103	GM12878	blood:	n/a	n/a
36	ELF1	chr11:63719307-63720168	GM12878	blood:	n/a	n/a
37	STAT5A	chr11:63719286-63720185	GM12878	blood:	n/a	chr11:63719641-63719649 chr11:63719623-63719631 chr11:63719473-63719481
38	YY1	chr11:63719350-63719658	GM12878	blood:	n/a	n/a
39	TAF1	chr11:63719352-63719766	GM12878	blood:	n/a	n/a
40	SPI1	chr11:63719276-63719917	HL-60	blood:	n/a	n/a
41	MXI1	chr11:63719385-63719845	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:63719321-63719982	GM12878	blood:	n/a	n/a
43	CEBPB	chr11:63719201-63719807	GM12878	blood:	n/a	n/a
44	MTA3	chr11:63719064-63720483	GM12878	blood:	n/a	n/a
45	IRF4	chr11:63719402-63720043	GM12878	blood:	n/a	n/a
46	SP1	chr11:63719291-63719712	GM12878	blood:	n/a	n/a
47	MYC	chr11:63719225-63719798	NB4	blood:	n/a	n/a
48	POLR2A	chr11:63719354-63719714	HL-60	blood:	n/a	n/a
49	POLR2A	chr11:63719373-63719992	GM12878	blood:	n/a	n/a
50	SPI1	chr11:63719349-63720174	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63705424..63708366-chr11:63719461..63721078,2	MCF-7	breast:

Variant related genes	Relation type
NAA40	TF binding region
ENSG00000110583	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10751004	0.93[EUR][1000 genomes]
rs10792424	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10897464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10897466	0.97[EUR][1000 genomes]
rs10897468	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11231646	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11231653	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11231655	0.82[EUR][1000 genomes]
rs11601228	0.92[EUR][1000 genomes]
rs11602912	0.86[AFR][1000 genomes]
rs12417507	0.83[EUR][1000 genomes]
rs12421757	0.83[EUR][1000 genomes]
rs12790749	0.92[EUR][1000 genomes]
rs12797540	0.83[EUR][1000 genomes]
rs12798491	0.98[EUR][1000 genomes]
rs12808604	0.92[EUR][1000 genomes]
rs1386346	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1684950	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1783964	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2318110	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2508584	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3019782	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs320121	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs320156	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35492216	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3740636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3740637	0.83[EUR][1000 genomes]
rs4426138	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs481835	0.94[EUR][1000 genomes]
rs483340	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs487540	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs488082	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4980499	0.83[EUR][1000 genomes]
rs4980500	0.83[EUR][1000 genomes]
rs4980509	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4980512	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4980516	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs499118	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs500493	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs502858	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs504314	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs528927	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs529915	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs539432	0.89[EUR][1000 genomes]
rs553724	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs562865	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs567386	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs578295	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6591830	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs709594	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7111130	0.85[EUR][1000 genomes]
rs7112348	0.81[EUR][1000 genomes]
rs728919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928990	0.91[EUR][1000 genomes]
rs7938498	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7942318	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7951529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943682	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 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	chr11:63707200-63724200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63707400-63721400	Weak transcription	Small Intestine	intestine
3	chr11:63707600-63720200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:63708200-63723400	Weak transcription	NH-A	brain
5	chr11:63713200-63719800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:63713200-63719800	Weak transcription	Aorta	Aorta
7	chr11:63713200-63725400	Weak transcription	Psoas Muscle	Psoas
8	chr11:63713200-63725800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:63713400-63719800	Weak transcription	Brain Substantia Nigra	brain
10	chr11:63713400-63721200	Weak transcription	Stomach Mucosa	stomach
11	chr11:63713400-63721600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:63713400-63721600	Weak transcription	Ovary	ovary
13	chr11:63713400-63724200	Strong transcription	K562	blood
14	chr11:63713400-63725200	Strong transcription	Fetal Intestine Small	intestine
15	chr11:63713400-63725400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:63713400-63725800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:63713400-63726200	Strong transcription	Fetal Stomach	stomach
18	chr11:63713400-63726800	Weak transcription	Fetal Brain Male	brain
19	chr11:63713400-63733800	Weak transcription	Right Atrium	heart
20	chr11:63713600-63719800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:63713600-63719800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:63713600-63719800	Weak transcription	HSMM	muscle
23	chr11:63713600-63723000	Weak transcription	Fetal Heart	heart
24	chr11:63713600-63724200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:63713600-63724200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:63713600-63724400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:63713600-63725200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:63713600-63726000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:63713800-63724400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:63713800-63726000	Strong transcription	Fetal Muscle Leg	muscle
31	chr11:63714000-63726200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr11:63714400-63719800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:63714400-63720000	Weak transcription	NHDF-Ad	bronchial
34	chr11:63714600-63719800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:63714600-63719800	Weak transcription	Adipose Nuclei	Adipose
36	chr11:63714600-63719800	Weak transcription	Liver	Liver
37	chr11:63714600-63719800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:63714600-63719800	Weak transcription	Left Ventricle	heart
39	chr11:63714600-63719800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:63714600-63720000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:63714600-63720000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:63714600-63720000	Weak transcription	HUVEC	blood vessel
43	chr11:63714600-63720200	Weak transcription	A549	lung
44	chr11:63714600-63720800	Weak transcription	Primary B cells from cord blood	blood
45	chr11:63714600-63720800	Weak transcription	Fetal Kidney	kidney
46	chr11:63714600-63721600	Weak transcription	Colon Smooth Muscle	Colon
47	chr11:63715200-63720800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr11:63716400-63724000	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:63717200-63719800	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:63717400-63719800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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