Variant report

Variant	rs11235713
Chromosome Location	chr11:72997496-72997497
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	REST	chr11:72997291-72998057	A549	lung:	n/a	chr11:72997535-72997555
2	CTCF	chr11:72997380-72997530	A549	lung:	n/a	n/a
3	REST	chr11:72997375-72998039	PANC-1	pancreas:	n/a	chr11:72997535-72997555
4	CTCF	chr11:72997380-72997530	BE2_C	brain:	n/a	n/a
5	CTCF	chr11:72997420-72997570	GM12874	blood:	n/a	n/a
6	REST	chr11:72997452-72997821	HepG2	liver:	n/a	chr11:72997535-72997555
7	CTCF	chr11:72997440-72997590	HCPEpiC	choroid plexus:	n/a	n/a
8	REST	chr11:72997420-72997816	MCF-7	breast:	n/a	chr11:72997535-72997555
9	CTCF	chr11:72997380-72997580	K562	blood:	n/a	n/a
10	RAD21	chr11:72997418-72997514	K562	blood:	n/a	n/a
11	CTCF	chr11:72997360-72997510	MCF-7	breast:	n/a	n/a
12	REST	chr11:72997312-72997840	PANC-1	pancreas:	n/a	chr11:72997535-72997555
13	CTCF	chr11:72997347-72997616	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr11:72997440-72997590	HEK293	kidney:	n/a	n/a
15	CTCF	chr11:72997380-72997530	HPAF	blood vessel:	n/a	n/a
16	CTCF	chr11:72997420-72997570	BE2_C	brain:	n/a	n/a
17	CTCF	chr11:72997453-72997498	MCF-7	breast:	n/a	n/a
18	CTCF	chr11:72997380-72997530	HCT-116	colon:	n/a	n/a
19	RAD21	chr11:72997325-72997658	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr11:72997400-72997550	HEK293	kidney:	n/a	n/a
21	CTCF	chr11:72997400-72997550	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr11:72997480-72997630	MCF-7	breast:	n/a	n/a
23	REST	chr11:72997358-72997971	ECC-1	luminal epithelium:	n/a	chr11:72997535-72997555
24	CTCF	chr11:72997400-72997550	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr11:72997479-72997525	GM12892	blood:	n/a	n/a
26	REST	chr11:72997472-72997817	H1-hESC	embryonic stem cell:	n/a	chr11:72997535-72997555
27	REST	chr11:72997403-72997976	PANC-1	pancreas:	n/a	chr11:72997535-72997555
28	REST	chr11:72997494-72997857	A549	lung:	n/a	chr11:72997535-72997555
29	REST	chr11:72997486-72997836	H1-hESC	embryonic stem cell:	n/a	chr11:72997535-72997555
30	CTCF	chr11:72997494-72997538	GM12878	blood:	n/a	n/a
31	CTCF	chr11:72997360-72997510	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr11:72997360-72997510	HVMF	connective:	n/a	n/a
33	REST	chr11:72997406-72997892	PFSK-1	brain:	n/a	chr11:72997535-72997555
34	CTCF	chr11:72997440-72997590	RPTEC	kidney:	n/a	n/a
35	CTCF	chr11:72997421-72997548	K562	blood:	n/a	n/a
36	REST	chr11:72997427-72997784	SK-N-SH	brain:	n/a	chr11:72997535-72997555
37	CTCF	chr11:72997360-72997510	HMF	breast:	n/a	n/a
38	REST	chr11:72997438-72997859	MCF-7	breast:	n/a	chr11:72997535-72997555
39	CTCF	chr11:72997420-72997570	K562	blood:	n/a	n/a
40	RAD21	chr11:72997357-72997660	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr11:72997379-72997572	H1-hESC	embryonic stem cell:	n/a	n/a
42	REST	chr11:72997340-72998004	PFSK-1	brain:	n/a	chr11:72997535-72997555
43	CTCF	chr11:72997400-72997550	SK-N-SH_RA	brain:	n/a	n/a
44	ZNF384	chr11:72997491-72997774	K562	blood:	n/a	n/a
45	REST	chr11:72997449-72997803	Hela-S3	cervix:	n/a	chr11:72997535-72997555
46	RAD21	chr11:72997228-72997739	H1-hESC	embryonic stem cell:	n/a	n/a
47	ZNF143	chr11:72997382-72997627	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr11:72997360-72997510	NB4	blood:	n/a	n/a
49	REST	chr11:72997376-72997884	ECC-1	luminal epithelium:	n/a	chr11:72997535-72997555
50	CTCF	chr11:72997400-72997550	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72996918..72999897-chr11:73019036..73021814,2	MCF-7	breast:
2	chr11:72989464..72991794-chr11:72995761..72997538,2	MCF-7	breast:
3	chr11:72996898..72998697-chr11:73022520..73024095,2	MCF-7	breast:
4	chr11:72995736..72998591-chr11:73090092..73091920,2	K562	blood:
5	chr11:72896543..72900928-chr11:72997023..72999571,3	MCF-7	breast:
6	chr11:72996129..72998235-chr11:73000749..73003241,2	MCF-7	breast:
7	chr11:72995120..72998021-chr11:73003736..73006660,2	MCF-7	breast:

Variant related genes	Relation type
P2RY6	TF binding region
ENSG00000257038	Chromatin interaction
ENSG00000171631	Chromatin interaction
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10898913	0.95[ASN][1000 genomes]
rs10898914	0.95[ASN][1000 genomes]
rs10898915	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235701	0.95[ASN][1000 genomes]
rs11235703	1.00[ASN][1000 genomes]
rs11235705	1.00[ASN][1000 genomes]
rs11235706	1.00[ASN][1000 genomes]
rs11235707	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235708	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235709	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235710	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235711	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235712	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12276627	1.00[ASN][1000 genomes]
rs12363628	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12790447	1.00[ASN][1000 genomes]
rs12790863	1.00[ASN][1000 genomes]
rs12794405	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801084	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808111	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894075	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28513476	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34023835	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34385073	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35455220	1.00[ASN][1000 genomes]
rs35963948	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4432047	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592517	1.00[ASN][1000 genomes]
rs67897720	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103650	1.00[ASN][1000 genomes]
rs7106903	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114877	0.95[ASN][1000 genomes]
rs7116594	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123808	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127013	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127179	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127705	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127940	1.00[ASN][1000 genomes]
rs7930891	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942649	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882904	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72980400-72998400	Weak transcription	Right Atrium	heart
2	chr11:72984600-73000000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:72986200-72999800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:72992200-72998600	Weak transcription	Primary B cells from cord blood	blood
5	chr11:72992400-72998600	Weak transcription	Pancreas	Pancrea
6	chr11:72992800-72997600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:72993600-72997800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:72993600-72998200	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:72993600-72998800	Weak transcription	GM12878-XiMat	blood
10	chr11:72993800-72997800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr11:72994400-72998800	Enhancers	Spleen	Spleen
12	chr11:72994400-72999000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:72994600-72998600	Weak transcription	Colonic Mucosa	Colon
14	chr11:72995000-72999600	Weak transcription	NHEK	skin
15	chr11:72995000-72999800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:72995200-72998400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:72995200-72998400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:72995200-72998600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:72995200-72999400	Weak transcription	HMEC	breast
20	chr11:72995200-72999600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:72995400-72998000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:72995400-72999400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:72995400-72999600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr11:72995400-72999800	Weak transcription	Esophagus	oesophagus
25	chr11:72995600-72999600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:72995600-72999800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:72996200-72998400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr11:72996400-73001000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr11:72996600-72997800	Genic enhancers	Placenta	Placenta
30	chr11:72996600-72998400	Weak transcription	Adipose Nuclei	Adipose
31	chr11:72997000-73003400	Enhancers	Fetal Intestine Large	intestine
32	chr11:72997200-72997600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr11:72997200-72997600	Weak transcription	K562	blood
34	chr11:72997200-72997800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:72997200-72997800	Weak transcription	A549	lung
36	chr11:72997200-72998400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr11:72997200-73001000	Genic enhancers	Fetal Intestine Small	intestine
38	chr11:72997400-72999800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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