Variant report

Variant	rs11039300
Chromosome Location	chr11:47587062-47587063
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	ETS1	chr11:47586736-47587449	K562	blood:	n/a	n/a
2	POLR2A	chr11:47586775-47587358	HCT-116	colon:	n/a	n/a
3	MAX	chr11:47586632-47587381	HCT-116	colon:	n/a	chr11:47586731-47586741 chr11:47586872-47586882 chr11:47586839-47586849
4	TCF3	chr11:47586927-47587286	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:47586822-47587508	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:47586859-47587388	GM12878	blood:	n/a	n/a
7	JUN	chr11:47586994-47587194	K562	blood:	n/a	n/a
8	EGR1	chr11:47586900-47587245	K562	blood:	n/a	n/a
9	POLR2A	chr11:47586762-47587624	K562	blood:	n/a	n/a
10	POU2F2	chr11:47586828-47587366	GM12891	blood:	n/a	chr11:47587093-47587105 chr11:47587096-47587108
11	HEY1	chr11:47586749-47587369	HepG2	liver:	n/a	chr11:47586907-47586916 chr11:47587090-47587105
12	PAX5	chr11:47586890-47587170	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:47586767-47587581	GM12892	blood:	n/a	n/a
14	HA-E2F1	chr11:47586643-47588077	MCF-7	breast:	n/a	chr11:47586954-47586961 chr11:47586698-47586706 chr11:47586953-47586965 chr11:47586953-47586962 chr11:47586954-47586961 chr11:47586954-47586961 chr11:47586697-47586707 chr11:47586949-47586964 chr11:47587573-47587582 chr11:47586698-47586705 chr11:47586698-47586706
15	TAF7	chr11:47586748-47587405	H1-hESC	embryonic stem cell:	n/a	n/a
16	BHLHE40	chr11:47586881-47587297	HepG2	liver:	n/a	chr11:47587078-47587094
17	CHD2	chr11:47586679-47587359	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUND	chr11:47586824-47587542	A549	lung:	n/a	n/a
19	ZBTB33	chr11:47586883-47587248	HepG2	liver:	n/a	chr11:47587057-47587072
20	CCNT2	chr11:47586875-47587565	K562	blood:	n/a	n/a
21	RFX5	chr11:47586938-47587226	Hela-S3	cervix:	n/a	n/a
22	E2F6	chr11:47586646-47587763	Hela-S3	cervix:	n/a	chr11:47586954-47586961 chr11:47586698-47586706 chr11:47586953-47586965 chr11:47586953-47586962 chr11:47586954-47586961 chr11:47586954-47586961 chr11:47586697-47586707 chr11:47586952-47586963 chr11:47586949-47586964 chr11:47587573-47587582 chr11:47586698-47586705 chr11:47586698-47586706
23	POLR2A	chr11:47586634-47587590	HUVEC	blood vessel:	n/a	n/a
24	ZBTB7A	chr11:47586525-47587753	K562	blood:	n/a	chr11:47587567-47587575
25	JUND	chr11:47586879-47587301	K562	blood:	n/a	n/a
26	POLR2A	chr11:47586719-47587488	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr11:47586861-47587688	HCT-116	colon:	n/a	n/a
28	POLR2A	chr11:47586713-47587595	ProgFib	skin:	n/a	n/a
29	ZNF384	chr11:47587008-47587232	K562	blood:	n/a	n/a
30	HA-E2F1	chr11:47586750-47587889	Hela-S3	cervix:	n/a	chr11:47586954-47586961 chr11:47586953-47586965 chr11:47586953-47586962 chr11:47586954-47586961 chr11:47586954-47586961 chr11:47586949-47586964 chr11:47587573-47587582
31	NR2F2	chr11:47586642-47588150	K562	blood:	n/a	n/a
32	CHD2	chr11:47586608-47587617	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:47586755-47587329	H1-hESC	embryonic stem cell:	n/a	n/a
34	YY1	chr11:47586799-47587474	K562	blood:	n/a	n/a
35	PML	chr11:47586739-47587512	GM12878	blood:	n/a	n/a
36	BRCA1	chr11:47586887-47587357	Hela-S3	cervix:	n/a	n/a
37	MXI1	chr11:47586366-47587741	IMR90	lung:	n/a	n/a
38	TAF1	chr11:47586775-47587781	HepG2	liver:	n/a	n/a
39	SIN3AK20	chr11:47586827-47587643	PANC-1	pancreas:	n/a	n/a
40	POLR2A	chr11:47586794-47587517	A549	lung:	n/a	n/a
41	POLR2A	chr11:47586746-47587506	GM12891	blood:	n/a	n/a
42	TAF1	chr11:47586815-47587413	GM12878	blood:	n/a	n/a
43	E2F6	chr11:47586607-47587330	H1-hESC	embryonic stem cell:	n/a	chr11:47586954-47586961 chr11:47586698-47586706 chr11:47586953-47586965 chr11:47586953-47586962 chr11:47586954-47586961 chr11:47586954-47586961 chr11:47586697-47586707 chr11:47586952-47586963 chr11:47586949-47586964 chr11:47586698-47586705 chr11:47586698-47586706
44	HEY1	chr11:47586753-47587424	K562	blood:	n/a	chr11:47586907-47586916 chr11:47587090-47587105
45	POLR2A	chr11:47586873-47587681	MCF10A-Er-Src	breast:	n/a	n/a
46	MAX	chr11:47586574-47587399	MCF-7	breast:	n/a	chr11:47586731-47586741 chr11:47586872-47586882 chr11:47586839-47586849
47	POLR2A	chr11:47586760-47587410	K562	blood:	n/a	n/a
48	RCOR1	chr11:47586923-47588028	Hela-S3	cervix:	n/a	n/a
49	YY1	chr11:47586868-47587551	GM12878	blood:	n/a	n/a
50	ELF1	chr11:47586806-47587439	GM12878	blood:	n/a	chr11:47586863-47586875

No.	Distal block	Cell Line	Cell type
1	chr11:47535507..47539459-chr11:47585714..47589149,4	MCF-7	breast:
2	chr11:47545148..47547980-chr11:47586701..47589133,2	MCF-7	breast:
3	chr11:47586403..47589804-chr11:47615450..47617603,3	MCF-7	breast:
4	chr11:47585806..47587545-chr6:74230961..74233222,2	K562	blood:
5	chr11:47571371..47576564-chr11:47585605..47588889,10	MCF-7	breast:
6	chr11:47586161..47588765-chr11:47660200..47662976,2	MCF-7	breast:
7	chr11:47416151..47418895-chr11:47586699..47588478,2	MCF-7	breast:
8	chr11:47515223..47517618-chr11:47586025..47588780,2	K562	blood:
9	chr11:47586971..47587653-chr8:141521446..141522059,2	HCT-116	colon:
10	chr11:47586895..47590126-chr11:47609798..47613644,4	MCF-7	breast:
11	chr11:47585423..47588969-chr11:47597747..47604797,13	K562	blood:
12	chr11:47571923..47578059-chr11:47583779..47591283,17	MCF-7	breast:
13	chr11:47578751..47581226-chr11:47586015..47587663,2	K562	blood:
14	chr11:47586839..47587661-chr11:64863640..64864615,2	Hela-S3	cervix:
15	chr11:47429691..47431699-chr11:47584830..47587245,2	MCF-7	breast:

Variant related genes	Relation type
CELF1	TF binding region
PTPMT1	TF binding region
ENSG00000165915	Chromatin interaction
ENSG00000265559	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000123444	Chromatin interaction
ENSG00000270072	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000172247	Chromatin interaction
ENSG00000109919	Chromatin interaction
ENSG00000104472	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000231880	Chromatin interaction
ENSG00000200376	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10742816	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1474056	0.87[EUR][1000 genomes]
rs2138767	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4147730	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4752786	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4752848	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57828885	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58119589	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7116299	0.89[EUR][1000 genomes]
rs7931089	0.87[EUR][1000 genomes]
rs7944532	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7945911	0.81[EUR][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	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer 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
3	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr11:47586200-47587600	Active TSS	Rectal Smooth Muscle	rectum
2	chr11:47586200-47588200	Active TSS	GM12878-XiMat	blood
3	chr11:47586200-47588400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr11:47586400-47587200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:47586400-47587800	Active TSS	Psoas Muscle	Psoas
6	chr11:47586400-47588000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr11:47586400-47588000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:47586400-47588200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:47586400-47588200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:47586400-47588200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr11:47586400-47588200	Active TSS	HSMM	muscle
12	chr11:47586400-47588400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr11:47586400-47588400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr11:47586400-47588400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr11:47586400-47588400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr11:47586400-47588400	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr11:47586400-47588600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr11:47586400-47588600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr11:47586400-47588600	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr11:47586400-47588600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:47586600-47587400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:47586600-47587600	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr11:47586600-47587600	Flanking Active TSS	Colonic Mucosa	Colon
24	chr11:47586600-47587600	Active TSS	Colon Smooth Muscle	Colon
25	chr11:47586600-47587600	Transcr. at gene 5' and 3'	Right Atrium	heart
26	chr11:47586600-47587800	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr11:47586600-47588000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr11:47586600-47588000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:47586600-47588000	Active TSS	Aorta	Aorta
30	chr11:47586600-47588000	Active TSS	Fetal Kidney	kidney
31	chr11:47586600-47588000	Active TSS	Lung	lung
32	chr11:47586600-47588000	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr11:47586600-47588000	Active TSS	Small Intestine	intestine
34	chr11:47586600-47588200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:47586600-47588200	Active TSS	Brain Hippocampus Middle	brain
36	chr11:47586600-47588400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:47586600-47588600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:47586800-47587400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:47586800-47587400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:47586800-47587400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr11:47586800-47587400	Active TSS	Fetal Brain Female	brain
42	chr11:47586800-47587400	Active TSS	Fetal Lung	lung
43	chr11:47586800-47587400	Active TSS	Osteobl	bone
44	chr11:47586800-47587600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
45	chr11:47586800-47587600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:47586800-47587600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:47586800-47587600	Active TSS	Brain Substantia Nigra	brain
48	chr11:47586800-47587600	Active TSS	Thymus	Thymus
49	chr11:47586800-47587800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:47586800-47587800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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