Variant report

Variant	rs73495060
Chromosome Location	chr11:64877947-64877948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:335)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:64877880-64878030	K562	blood:	n/a	n/a
2	POLR2A	chr11:64877792-64878095	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr11:64877885-64878085	Hela-S3	cervix:	n/a	n/a
4	ZMIZ1	chr11:64877806-64878136	K562	blood:	n/a	n/a
5	CTCF	chr11:64877860-64878010	HA-sp	spinal cord:	n/a	n/a
6	CTCF	chr11:64877860-64878010	HCFaa	heart:	n/a	n/a
7	CTCF	chr11:64877820-64877970	GM12870	blood:	n/a	n/a
8	SP4	chr11:64877750-64878189	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr11:64877663-64878218	MCF-7	breast:	n/a	n/a
10	CTCF	chr11:64877900-64878050	GM12865	blood:	n/a	n/a
11	RFX5	chr11:64877848-64878202	Hela-S3	cervix:	n/a	n/a
12	RCOR1	chr11:64877691-64878108	GM12878	blood:	n/a	n/a
13	ZNF143	chr11:64877764-64878132	GM12878	blood:	n/a	n/a
14	RCOR1	chr11:64877746-64878125	K562	blood:	n/a	n/a
15	UBTF	chr11:64877887-64878100	K562	blood:	n/a	n/a
16	CEBPB	chr11:64877786-64878381	Hela-S3	cervix:	n/a	n/a
17	STAT1	chr11:64877804-64878117	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:64877389-64878206	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:64877765-64878145	H1-hESC	embryonic stem cell:	n/a	n/a
20	ELF1	chr11:64877643-64877985	A549	lung:	n/a	chr11:64877700-64877713
21	BHLHE40	chr11:64877781-64878020	K562	blood:	n/a	n/a
22	GTF2F1	chr11:64877762-64878037	Hela-S3	cervix:	n/a	n/a
23	RAD21	chr11:64877830-64878074	GM12878	blood:	n/a	n/a
24	CHD2	chr11:64877814-64878115	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr11:64877880-64878030	GM12864	blood:	n/a	n/a
26	POLR2A	chr11:64876759-64881077	GM12892	blood:	n/a	n/a
27	CTCF	chr11:64877880-64878030	HVMF	connective:	n/a	n/a
28	POLR2A	chr11:64877248-64878387	GM12891	blood:	n/a	n/a
29	RFX5	chr11:64877815-64878057	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:64877804-64878195	GM12878	blood:	n/a	n/a
31	CTCF	chr11:64877900-64878050	AG04449	skin:	n/a	n/a
32	FOSL2	chr11:64877772-64878455	HepG2	liver:	n/a	chr11:64878269-64878280 chr11:64878268-64878276
33	CTCF	chr11:64877766-64878144	GM19238	blood:	n/a	n/a
34	CTCF	chr11:64877788-64878147	A549	lung:	n/a	n/a
35	CTCF	chr11:64877726-64878221	A549	lung:	n/a	n/a
36	MAFK	chr11:64877806-64878343	HepG2	liver:	n/a	n/a
37	CTCF	chr11:64877880-64878030	HCT-116	colon:	n/a	n/a
38	POLR2A	chr11:64877664-64878091	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr11:64877018-64878410	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr11:64877552-64878403	HCT-116	colon:	n/a	n/a
41	BRCA1	chr11:64877852-64878089	Hela-S3	cervix:	n/a	n/a
42	FOXM1	chr11:64877677-64878163	GM12878	blood:	n/a	n/a
43	CTCF	chr11:64877860-64878010	GM12864	blood:	n/a	n/a
44	RAD21	chr11:64877805-64878159	A549	lung:	n/a	n/a
45	CTCF	chr11:64877860-64878010	HL-60	blood:	n/a	n/a
46	POLR2A	chr11:64876815-64878194	GM12891	blood:	n/a	n/a
47	CBX3	chr11:64877734-64878144	K562	blood:	n/a	n/a
48	MAFK	chr11:64877821-64877988	K562	blood:	n/a	n/a
49	POLR2A	chr11:64876705-64878347	GM12891	blood:	n/a	n/a
50	CTCF	chr11:64877860-64878010	GM12872	blood:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64877480..64878722-chr11:64948008..64949236,4	K562	blood:
2	chr11:64860579..64868255-chr11:64873377..64881831,25	K562	blood:
3	chr11:64877106..64879107-chr11:64941043..64943277,3	K562	blood:
4	chr11:64877899..64878692-chr11:64948009..64948993,4	MCF-7	breast:
5	chr11:64778393..64787449-chr11:64877655..64886980,25	K562	blood:
6	chr11:64792804..64795022-chr11:64876494..64879449,2	K562	blood:
7	chr11:64849359..64854600-chr11:64874292..64883144,16	MCF-7	breast:
8	chr11:64682540..64686355-chr11:64876478..64880305,4	K562	blood:
9	chr11:64877474..64879697-chr11:65341982..65344398,2	MCF-7	breast:
10	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
11	chr11:64643787..64646984-chr11:64875593..64882466,11	MCF-7	breast:
12	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
13	chr11:64779881..64786783-chr11:64876081..64880870,13	MCF-7	breast:
14	chr11:64849456..64854518-chr11:64877116..64882654,9	K562	blood:
15	chr11:64778507..64787901-chr11:64877920..64890097,31	K562	blood:
16	chr11:64644806..64648507-chr11:64877927..64882201,4	MCF-7	breast:
17	chr11:64772580..64786543-chr11:64875055..64887722,37	MCF-7	breast:
18	chr11:64807050..64811411-chr11:64876533..64881108,6	MCF-7	breast:
19	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
20	chr11:64876667..64879055-chr11:65292718..65294570,2	K562	blood:
21	chr11:64576531..64579028-chr11:64877071..64879656,2	MCF-7	breast:
22	chr11:64877165..64880640-chr11:64955591..64959412,3	K562	blood:
23	chr11:64606648..64614730-chr11:64876453..64886748,20	MCF-7	breast:
24	chr11:64781085..64781644-chr11:64877896..64878600,2	K562	blood:
25	chr11:64877278..64879972-chr6:31801371..31804052,2	MCF-7	breast:
26	chr11:64877908..64880031-chr17:57915265..57917723,2	MCF-7	breast:

No data

Variant related genes	Relation type
TM7SF2	TF binding region
VPS51	TF binding region
ENSG00000171219	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000249251	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000133895	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000142186	Chromatin interaction
ENSG00000110046	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11819994	1.00[EUR][1000 genomes]
rs11824823	1.00[EUR][1000 genomes]
rs11825104	1.00[EUR][1000 genomes]
rs11826724	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11828131	1.00[EUR][1000 genomes]
rs17145206	1.00[EUR][1000 genomes]
rs17146681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17882241	1.00[EUR][1000 genomes]
rs17883601	1.00[EUR][1000 genomes]
rs17884528	1.00[EUR][1000 genomes]
rs17885792	1.00[EUR][1000 genomes]
rs17886339	1.00[EUR][1000 genomes]
rs57292990	1.00[EUR][1000 genomes]
rs57895567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57983247	1.00[EUR][1000 genomes]
rs58009266	1.00[EUR][1000 genomes]
rs58306239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60034183	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60169759	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60568743	1.00[EUR][1000 genomes]
rs61136517	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61202604	1.00[EUR][1000 genomes]
rs61231480	1.00[EUR][1000 genomes]
rs61746813	1.00[EUR][1000 genomes]
rs73474770	1.00[EUR][1000 genomes]
rs73474771	1.00[EUR][1000 genomes]
rs73474781	1.00[EUR][1000 genomes]
rs73477004	1.00[EUR][1000 genomes]
rs73477025	1.00[EUR][1000 genomes]
rs73477027	1.00[EUR][1000 genomes]
rs73477209	1.00[EUR][1000 genomes]
rs73477214	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73477217	1.00[AMR][1000 genomes]
rs73477223	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73477224	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73477233	1.00[EUR][1000 genomes]
rs73477237	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479135	1.00[EUR][1000 genomes]
rs73480916	1.00[EUR][1000 genomes]
rs73480917	1.00[EUR][1000 genomes]
rs73480936	1.00[EUR][1000 genomes]
rs73480948	1.00[EUR][1000 genomes]
rs73481122	1.00[EUR][1000 genomes]
rs73495050	1.00[EUR][1000 genomes]
rs73495054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs769438	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs769439	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription 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 miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv897712	chr11:64856695-64882789	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	67 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	chr11:64864200-64879400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:64864400-64878000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:64864800-64878200	Weak transcription	NHDF-Ad	bronchial
4	chr11:64864800-64878600	Weak transcription	Small Intestine	intestine
5	chr11:64864800-64879400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:64865000-64878000	Strong transcription	Fetal Intestine Small	intestine
7	chr11:64865000-64879000	Weak transcription	Fetal Kidney	kidney
8	chr11:64866200-64878000	Weak transcription	Fetal Brain Male	brain
9	chr11:64866200-64878000	Weak transcription	HMEC	breast
10	chr11:64866400-64878000	Weak transcription	K562	blood
11	chr11:64866800-64878000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:64866800-64878000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:64869600-64878000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:64870200-64878000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:64870200-64878000	Weak transcription	HUVEC	blood vessel
16	chr11:64870200-64878000	Weak transcription	Osteobl	bone
17	chr11:64871000-64879000	Weak transcription	NH-A	brain
18	chr11:64871400-64879200	Weak transcription	HSMM	muscle
19	chr11:64871400-64879400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:64871800-64878000	Weak transcription	HSMMtube	muscle
21	chr11:64872000-64878000	Weak transcription	Stomach Mucosa	stomach
22	chr11:64872200-64878000	Strong transcription	Placenta	Placenta
23	chr11:64872600-64878000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:64872800-64878000	Strong transcription	Fetal Stomach	stomach
25	chr11:64873400-64878000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:64873400-64879000	Weak transcription	Right Atrium	heart
27	chr11:64873600-64878000	Weak transcription	NHEK	skin
28	chr11:64873800-64878000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr11:64874000-64878200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:64874600-64878000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:64874800-64878000	Genic enhancers	Esophagus	oesophagus
32	chr11:64875400-64880600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:64875800-64878000	Strong transcription	Fetal Intestine Large	intestine
34	chr11:64876000-64878000	Weak transcription	Psoas Muscle	Psoas
35	chr11:64876000-64879000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:64876200-64878000	Strong transcription	Fetal Lung	lung
37	chr11:64876400-64879000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:64876800-64878000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr11:64877000-64878000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:64877000-64878000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:64877000-64878000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:64877000-64878000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:64877200-64878000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:64877200-64878000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:64877200-64878000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:64877200-64878800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:64877200-64878800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:64877200-64878800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:64877400-64878000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:64877400-64878000	Weak transcription	Primary monocytes fromperipheralblood	blood

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