Variant report

Variant	rs17157384
Chromosome Location	chr11:62308618-62308619
allele	A/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	RELA	chr11:62308462-62309294	GM19193	blood:	n/a	n/a
2	TBP	chr11:62308350-62309095	GM12878	blood:	n/a	n/a
3	YY1	chr11:62308335-62309054	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:62308122-62308966	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:62305874-62309598	U87	brain:	n/a	n/a
6	POU2F2	chr11:62308493-62308989	GM12891	blood:	n/a	chr11:62308957-62308969
7	MAZ	chr11:62308299-62309198	GM12878	blood:	n/a	chr11:62308895-62308904 chr11:62308896-62308905
8	EP300	chr11:62308556-62309197	GM12878	blood:	n/a	chr11:62308620-62308633 chr11:62308896-62308905 chr11:62309034-62309048 chr11:62308895-62308904
9	EBF1	chr11:62308152-62309269	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:62308336-62308881	GM19193	blood:	n/a	n/a
11	SIN3A	chr11:62308602-62309059	GM12878	blood:	n/a	n/a
12	MXI1	chr11:62308347-62309149	GM12878	blood:	n/a	n/a
13	IRF4	chr11:62308384-62309353	GM12878	blood:	n/a	n/a
14	STAT5A	chr11:62308514-62309102	GM12878	blood:	n/a	chr11:62308895-62308904 chr11:62308896-62308905 chr11:62308610-62308621 chr11:62309039-62309050
15	POLR2A	chr11:62308371-62308783	GM12878	blood:	n/a	n/a
16	RELA	chr11:62308381-62309249	GM15510	blood:	n/a	n/a
17	CHD2	chr11:62308511-62309144	GM12878	blood:	n/a	n/a
18	WRNIP1	chr11:62308347-62309168	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:62308344-62308908	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:62308363-62308799	GM15510	blood:	n/a	n/a
21	TCF12	chr11:62308407-62308879	GM12878	blood:	n/a	n/a
22	CTCF	chr11:62308480-62308630	AoAF	blood vessel:	n/a	n/a
23	RUNX3	chr11:62308239-62309310	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:62308129-62309119	GM12892	blood:	n/a	n/a
25	RELA	chr11:62308149-62309275	GM12891	blood:	n/a	n/a
26	POLR2A	chr11:62308155-62309035	GM12892	blood:	n/a	n/a
27	POLR2A	chr11:62308122-62315675	PANC-1	pancreas:	n/a	n/a
28	BCLAF1	chr11:62308416-62309222	GM12878	blood:	n/a	chr11:62308931-62308940 chr11:62308895-62308904 chr11:62308896-62308905
29	EP300	chr11:62308506-62309136	GM12878	blood:	n/a	chr11:62308620-62308633 chr11:62308896-62308905 chr11:62309034-62309048 chr11:62308895-62308904
30	STAT5A	chr11:62308258-62309556	GM12878	blood:	n/a	chr11:62308895-62308904 chr11:62308896-62308905 chr11:62308610-62308621 chr11:62309039-62309050
31	POLR2A	chr11:62308252-62308897	SK-N-SH	brain:	n/a	n/a
32	ELF1	chr11:62308026-62308928	GM12878	blood:	n/a	n/a
33	ATF2	chr11:62308176-62309240	GM12878	blood:	n/a	n/a
34	MYC	chr11:62308199-62309158	NB4	blood:	n/a	chr11:62308895-62308904 chr11:62308896-62308905
35	FOXP2	chr11:62308176-62308654	PFSK-1	brain:	n/a	n/a
36	TBL1XR1	chr11:62308358-62309227	GM12878	blood:	n/a	n/a
37	NRF1	chr11:62308363-62309345	GM12878	blood:	n/a	n/a
38	ELK1	chr11:62308571-62309044	GM12878	blood:	n/a	n/a
39	BHLHE40	chr11:62308499-62309173	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:62307968-62309218	PFSK-1	brain:	n/a	n/a
41	POLR2A	chr11:62308368-62309023	GM12878	blood:	n/a	n/a
42	SMC3	chr11:62308367-62309458	GM12878	blood:	n/a	chr11:62308953-62308961
43	POLR2A	chr11:62308112-62309132	HUVEC	blood vessel:	n/a	n/a
44	RUNX3	chr11:62308379-62309266	GM12878	blood:	n/a	n/a
45	TAF1	chr11:62308417-62308910	GM12878	blood:	n/a	n/a
46	RELA	chr11:62308283-62309505	GM18951	blood:	n/a	n/a
47	RELA	chr11:62308417-62309266	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:62308319-62308914	GM18951	blood:	n/a	n/a
49	CHD1	chr11:62308518-62309132	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:62308157-62308739	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:62307099..62310232-chr11:62431521..62435102,3	MCF-7	breast:
2	chr11:62308096..62310247-chr11:62607085..62609349,3	MCF-7	breast:
3	chr11:62274579..62277992-chr11:62305357..62311305,7	MCF-7	breast:
4	chr11:62186203..62188452-chr11:62307785..62309927,2	MCF-7	breast:
5	chr11:62190811..62192819-chr11:62308539..62310844,3	MCF-7	breast:
6	chr11:62302214..62306267-chr11:62306898..62310214,3	K562	blood:
7	chr11:62196161..62199633-chr11:62307876..62311334,4	MCF-7	breast:
8	chr11:62307451..62310157-chr11:62311156..62312735,2	K562	blood:
9	chr11:62263870..62269326-chr11:62305524..62310974,8	MCF-7	breast:
10	chr11:62307842..62309430-chr11:62359259..62362126,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257058	TF binding region
ENSG00000206597	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000149021	Chromatin interaction
ENSG00000250659	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000162194	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11822448	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11826949	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
5	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	esv1801128	chr11:62276347-62329897	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
7	esv1831183	chr11:62276347-62329897	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
9	nsv347	chr11:62297068-62338927	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62302400-62312400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:62302400-62315400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:62302800-62309400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:62303200-62310000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr11:62303400-62310000	Genic enhancers	Fetal Intestine Small	intestine
6	chr11:62303600-62310000	Genic enhancers	Fetal Stomach	stomach
7	chr11:62303800-62310000	Weak transcription	Primary T cells from cord blood	blood
8	chr11:62304000-62310000	Genic enhancers	Fetal Muscle Leg	muscle
9	chr11:62304400-62310000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:62305000-62309000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:62305000-62310000	Enhancers	Placenta	Placenta
12	chr11:62305400-62309400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:62305600-62308800	Enhancers	Brain Hippocampus Middle	brain
14	chr11:62305600-62309400	Genic enhancers	Fetal Intestine Large	intestine
15	chr11:62305600-62310000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:62305600-62310000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr11:62305600-62310000	Enhancers	Brain Cingulate Gyrus	brain
18	chr11:62305600-62310400	Enhancers	Small Intestine	intestine
19	chr11:62305600-62311200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:62305800-62310000	Genic enhancers	HepG2	liver
21	chr11:62305800-62311200	Transcr. at gene 5' and 3'	NHEK	skin
22	chr11:62305800-62311600	Enhancers	Pancreas	Pancrea
23	chr11:62305800-62312600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:62306000-62309000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:62306000-62310000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:62306000-62310000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr11:62306000-62310000	Enhancers	K562	blood
28	chr11:62306000-62310200	Enhancers	Brain Substantia Nigra	brain
29	chr11:62306000-62310600	Weak transcription	Thymus	Thymus
30	chr11:62306200-62309600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
31	chr11:62306200-62310200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr11:62306400-62309000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:62306400-62309800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr11:62306400-62310000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:62306400-62310000	Enhancers	Brain Anterior Caudate	brain
36	chr11:62306400-62310400	Enhancers	Primary hematopoietic stem cells	blood
37	chr11:62306400-62312200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr11:62306600-62308800	Enhancers	Fetal Lung	lung
39	chr11:62306600-62309000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr11:62306600-62309800	Enhancers	Fetal Heart	heart
41	chr11:62306600-62310000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr11:62306600-62310400	Enhancers	Liver	Liver
43	chr11:62306800-62309400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:62307000-62308800	Enhancers	Brain Angular Gyrus	brain
45	chr11:62307000-62309200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr11:62307000-62309800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:62307000-62310400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr11:62307000-62310400	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr11:62307000-62310600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr11:62307000-62311200	Flanking Active TSS	HMEC	breast

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