Variant report

Variant	rs11542177
Chromosome Location	chr11:65685317-65685318
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	POLR2A	chr11:65682505-65685837	HCT-116	colon:	n/a	n/a
2	EGR1	chr11:65685178-65687788	HCT-116	colon:	n/a	chr11:65687121-65687136 chr11:65687354-65687367 chr11:65687123-65687133 chr11:65686611-65686625 chr11:65686295-65686305 chr11:65686845-65686860 chr11:65686846-65686859 chr11:65687595-65687608 chr11:65686717-65686730 chr11:65687155-65687165 chr11:65686846-65686859 chr11:65686846-65686860 chr11:65686846-65686859 chr11:65686849-65686859 chr11:65687122-65687135 chr11:65687712-65687722 chr11:65687157-65687170 chr11:65687297-65687311 chr11:65686849-65686858 chr11:65686846-65686859 chr11:65687120-65687130
3	POLR2A	chr11:65684967-65685757	ProgFib	skin:	n/a	n/a
4	MAZ	chr11:65684129-65687972	IMR90	lung:	n/a	chr11:65687019-65687026 chr11:65687018-65687027 chr11:65687018-65687028 chr11:65687016-65687029 chr11:65687017-65687028 chr11:65687367-65687377 chr11:65687018-65687027 chr11:65687017-65687028 chr11:65687017-65687027 chr11:65687354-65687363 chr11:65687122-65687132 chr11:65687017-65687028
5	POLR2A	chr11:65684955-65685436	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:65684765-65685838	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr11:65685126-65685751	K562	blood:	n/a	n/a
8	EBF1	chr11:65685056-65685635	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:65681960-65688394	PANC-1	pancreas:	n/a	n/a
10	CHD1	chr11:65684362-65687144	IMR90	lung:	n/a	chr11:65687119-65687129
11	POLR2A	chr11:65682124-65685845	K562	blood:	n/a	n/a
12	MAX	chr11:65684998-65688252	A549	lung:	n/a	chr11:65687019-65687026 chr11:65687018-65687027 chr11:65687018-65687028 chr11:65687016-65687029 chr11:65687017-65687028 chr11:65687367-65687377 chr11:65687018-65687027 chr11:65687017-65687028 chr11:65687017-65687027 chr11:65687016-65687026 chr11:65687354-65687363 chr11:65687122-65687132 chr11:65687017-65687028
13	RCOR1	chr11:65685260-65688557	IMR90	lung:	n/a	n/a
14	POLR2A	chr11:65681389-65688769	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr11:65685233-65685371	A549	lung:	n/a	n/a
16	POLR2A	chr11:65682380-65686585	Hela-S3	cervix:	n/a	n/a
17	HEY1	chr11:65685120-65685593	K562	blood:	n/a	n/a
18	POLR2A	chr11:65684917-65686612	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr11:65682054-65686599	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:65682270-65687707	K562	blood:	n/a	n/a
21	POLR2A	chr11:65682661-65686627	HCT-116	colon:	n/a	n/a
22	POLR2A	chr11:65681773-65687130	U87	brain:	n/a	n/a
23	SIN3AK20	chr11:65684708-65685488	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr11:65684807-65686640	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:65677999-65686383	U87	brain:	n/a	n/a
26	MXI1	chr11:65685306-65688346	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr11:65678005-65686377	U87	brain:	n/a	n/a
28	POLR2A	chr11:65682095-65686648	GM12892	blood:	n/a	n/a
29	MAX	chr11:65684605-65687730	HCT-116	colon:	n/a	chr11:65687019-65687026 chr11:65687018-65687027 chr11:65687018-65687028 chr11:65687016-65687029 chr11:65687017-65687028 chr11:65687367-65687377 chr11:65687018-65687027 chr11:65687017-65687028 chr11:65687017-65687027 chr11:65687016-65687026 chr11:65687354-65687363 chr11:65687122-65687132 chr11:65687017-65687028
30	POLR2A	chr11:65682320-65687300	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr11:65682548-65686605	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:65684834-65685839	GM12878	blood:	n/a	n/a
33	MTA3	chr11:65685291-65686427	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:65685238-65685432	A549	lung:	n/a	n/a
35	POLR2A	chr11:65685032-65685814	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65685316-65685366	PFSK-1	brain:	n/a
2	chr11:65685316-65685366	HEK293	kidney:	embryo
3	chr11:65685316-65685366	SAEC	small airway:	n/a
4	chr11:65685316-65685366	SK-N-MC	brain:	n/a
5	chr11:65685316-65685366	AG09309	skin:	n/a
6	chr11:65685316-65685366	MCF10A-Er-Src	breast:	n/a
7	chr11:65685316-65685366	HAEpiC	amniotic membrane:	n/a
8	chr11:65685316-65685366	HEEpiC	esophagus:	n/a
9	chr11:65685316-65685366	LNCaP	prostate:	n/a
10	chr11:65685316-65685366	AG09319	gingival:	n/a
11	chr11:65685316-65685366	NB4	blood:	n/a
12	chr11:65685316-65685366	HPAEpiC	pulmonary alveolar:	n/a
13	chr11:65685316-65685366	NH-A	brain:	n/a
14	chr11:65685316-65685366	Hepatocyte	liver:	n/a
15	chr11:65685316-65685366	HepG2	liver:	n/a
16	chr11:65685316-65685366	AG04450	lung:	fetal
17	chr11:65685316-65685366	ECC-1	luminal epithelium:	n/a
18	chr11:65685316-65685366	HL-60	blood:	n/a
19	chr11:65685316-65685366	BE2_C	brain:	n/a
20	chr11:65685316-65685366	T-47D	breast:	n/a
21	chr11:65685316-65685366	RPTEC	kidney:	n/a
22	chr11:65685316-65685366	AG04449	skin:	fetal
23	chr11:65685316-65685366	CMK	blood:	n/a
24	chr11:65685316-65685366	SKMC	muscle:	n/a
25	chr11:65685316-65685366	IMR90	lung:	fetal
26	chr11:65685316-65685366	Jurkat	blood:	n/a
27	chr11:65685316-65685366	HCM	heart:	n/a
28	chr11:65685316-65685366	HRCEpiC	kidney:	n/a
29	chr11:65685316-65685366	Caco-2	colon:	n/a
30	chr11:65685316-65685366	PANC-1	pancreas:	n/a
31	chr11:65685316-65685366	HIPEpiC	eye:	n/a
32	chr11:65685316-65685366	NHBE	bronchial:	n/a
33	chr11:65685316-65685366	HCF	heart:	n/a
34	chr11:65685316-65685366	HCT-116	colon:	n/a
35	chr11:65685316-65685366	GM19239	blood:	n/a
36	chr11:65685316-65685366	NHDF-neo	bronchial:	n/a
37	chr11:65685316-65685366	MCF-7	breast:	n/a
38	chr11:65685316-65685366	AoSMC	blood vessel:	n/a
39	chr11:65685316-65685366	GM12891	blood:	n/a
40	chr11:65685316-65685366	K562	blood:	n/a
41	chr11:65685316-65685366	HRPEpiC	eye:	n/a
42	chr11:65685316-65685366	ProgFib	skin:	n/a
43	chr11:65685316-65685366	BJ	skin:	n/a
44	chr11:65685316-65685366	HNPCEpiC	eye:	n/a
45	chr11:65685316-65685366	H1-hESC	embryonic stem cell:	embryo
46	chr11:65685316-65685366	Hela-S3	cervix:	n/a
47	chr11:65685316-65685366	HRE	kidney:	n/a
48	chr11:65685316-65685366	PrEC	prostate:	n/a
49	chr11:65685316-65685366	NT2-D1	testis:	n/a
50	chr11:65685316-65685366	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65485702..65488169-chr11:65683105..65685418,2	MCF-7	breast:
2	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
3	chr11:65650935..65653549-chr11:65685284..65687414,2	MCF-7	breast:
4	chr11:65342886..65345023-chr11:65685103..65687892,2	MCF-7	breast:
5	chr11:65684297..65686517-chr11:66083132..66085712,2	MCF-7	breast:
6	chr11:65640551..65642134-chr11:65685115..65687811,2	MCF-7	breast:
7	chr11:65685063..65688035-chr11:65836071..65837888,2	MCF-7	breast:
8	chr11:65684149..65688321-chr11:65727274..65731998,8	MCF-7	breast:
9	chr11:65683260..65685556-chr11:65700127..65702595,2	MCF-7	breast:
10	chr11:65624095..65629782-chr11:65682347..65689302,13	MCF-7	breast:
11	chr11:64509755..64511903-chr11:65684738..65686627,2	K562	blood:
12	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
13	chr11:65684023..65687163-chr11:65778751..65782457,4	MCF-7	breast:
14	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:
15	chr11:65488196..65490800-chr11:65684778..65687737,2	MCF-7	breast:
16	chr11:65552272..65555849-chr11:65684886..65688039,3	MCF-7	breast:

Variant related genes	Relation type
DRAP1	TF binding region
DRAP1	CpG island
ENSG00000175315	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000174807	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000172818	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10791831	1.00[ASN][1000 genomes]
rs10896065	0.97[ASN][1000 genomes]
rs11227338	0.96[ASN][1000 genomes]
rs12099125	1.00[ASN][1000 genomes]
rs12099359	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12575514	0.81[ASN][1000 genomes]
rs12576224	0.94[ASN][1000 genomes]
rs12576319	1.00[ASN][1000 genomes]
rs12577625	0.81[ASN][1000 genomes]
rs28372938	0.81[ASN][1000 genomes]
rs58192075	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58905199	0.81[ASN][1000 genomes]
rs61515492	0.86[ASN][1000 genomes]
rs653955	1.00[ASN][1000 genomes]
rs67232706	0.83[ASN][1000 genomes]
rs67530871	0.83[ASN][1000 genomes]
rs72928828	0.81[ASN][1000 genomes]
rs72928830	0.81[ASN][1000 genomes]
rs73496412	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73496423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73496424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73496435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7927841	0.89[ASN][1000 genomes]
rs7940700	0.97[ASN][1000 genomes]
rs7941052	0.94[ASN][1000 genomes]
rs9326357	0.84[ASN][1000 genomes]
rs9326362	0.94[ASN][1000 genomes]
rs9919533	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers 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	178 gene(s)	inside rSNPs	diseases
4	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
6	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
7	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
9	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
10	nsv897767	chr11:65683531-65690206	Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65681600-65685400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:65682000-65685400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr11:65682200-65685800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:65682600-65685400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:65682600-65685400	Enhancers	Brain Angular Gyrus	brain
6	chr11:65682600-65685400	Enhancers	Brain Substantia Nigra	brain
7	chr11:65682600-65685600	Enhancers	Fetal Heart	heart
8	chr11:65682600-65686000	Flanking Active TSS	Hela-S3	cervix
9	chr11:65682600-65686400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:65682800-65685400	Enhancers	Primary B cells from cord blood	blood
11	chr11:65682800-65685400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr11:65682800-65686200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:65682800-65686200	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr11:65683400-65686000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:65683400-65686000	Flanking Active TSS	HUVEC	blood vessel
16	chr11:65683600-65685400	Enhancers	Primary hematopoietic stem cells	blood
17	chr11:65683600-65685400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr11:65683600-65685800	Transcr. at gene 5' and 3'	NHLF	lung
19	chr11:65683800-65685400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:65683800-65685400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:65683800-65685400	Enhancers	Stomach Mucosa	stomach
22	chr11:65683800-65685600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:65683800-65685800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
24	chr11:65683800-65686000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:65683800-65686200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:65684000-65685400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr11:65684000-65685600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:65684000-65685600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:65684000-65685800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:65684200-65686000	Transcr. at gene 5' and 3'	NHEK	skin
31	chr11:65684400-65685400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:65684400-65685400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:65684400-65685400	Enhancers	Liver	Liver
34	chr11:65684400-65685400	Genic enhancers	Fetal Thymus	thymus
35	chr11:65684400-65685400	Enhancers	Gastric	stomach
36	chr11:65684400-65685400	Genic enhancers	Spleen	Spleen
37	chr11:65684400-65685400	Transcr. at gene 5' and 3'	HSMM	muscle
38	chr11:65684400-65685600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:65684400-65685600	Enhancers	Fetal Brain Male	brain
40	chr11:65684400-65685600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
41	chr11:65684400-65685800	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr11:65684400-65686000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:65684400-65686000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:65684400-65686000	Flanking Active TSS	HSMMtube	muscle
45	chr11:65684400-65686200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr11:65684400-65686400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
47	chr11:65684600-65685400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
48	chr11:65684600-65685400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:65684600-65685400	Transcr. at gene 5' and 3'	Osteobl	bone
50	chr11:65684600-65685600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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