Variant report

Variant	rs650277
Chromosome Location	chr11:64578295-64578296
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	GTF2F1	chr11:64577875-64578454	Hela-S3	cervix:	n/a	n/a
2	GABPA	chr11:64577944-64578418	H1-hESC	embryonic stem cell:	n/a	chr11:64578130-64578139
3	MAX	chr11:64577889-64578700	HepG2	liver:	n/a	chr11:64578551-64578560 chr11:64578547-64578562 chr11:64578551-64578558 chr11:64578550-64578561 chr11:64578550-64578561
4	YY1	chr11:64577195-64578333	K562	blood:	n/a	chr11:64577590-64577604 chr11:64577866-64577880 chr11:64577871-64577880 chr11:64577596-64577605 chr11:64578014-64578028 chr11:64577582-64577591 chr11:64578099-64578110 chr11:64577854-64577873
5	MAX	chr11:64577708-64578664	SK-N-SH	brain:	n/a	chr11:64577872-64577882 chr11:64578551-64578560 chr11:64578547-64578562 chr11:64578551-64578558 chr11:64578550-64578561 chr11:64578550-64578561
6	CREB1	chr11:64577268-64578485	GM12878	blood:	n/a	n/a
7	CHD2	chr11:64577938-64578380	K562	blood:	n/a	n/a
8	JUN	chr11:64577967-64578378	K562	blood:	n/a	n/a
9	POLR2A	chr11:64577815-64578327	HepG2	liver:	n/a	n/a
10	GABPA	chr11:64577726-64578748	MCF-7	breast:	n/a	chr11:64577871-64577880 chr11:64578130-64578139
11	SIN3AK20	chr11:64577298-64578410	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr11:64577901-64578417	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:64577805-64578503	NB4	blood:	n/a	n/a
14	EP300	chr11:64577943-64578458	K562	blood:	n/a	chr11:64578016-64578032
15	SIX5	chr11:64577828-64578497	GM12878	blood:	n/a	chr11:64578263-64578277
16	MAX	chr11:64578043-64578722	H1-hESC	embryonic stem cell:	n/a	chr11:64578551-64578560 chr11:64578547-64578562 chr11:64578551-64578558 chr11:64578550-64578561 chr11:64578550-64578561
17	EP300	chr11:64577904-64578315	T-47D	breast:	n/a	chr11:64578016-64578032
18	ZNF143	chr11:64577843-64578522	Hela-S3	cervix:	n/a	chr11:64578257-64578275 chr11:64578152-64578170 chr11:64578252-64578271 chr11:64578073-64578091 chr11:64578034-64578052 chr11:64578029-64578048
19	EP300	chr11:64577907-64578311	GM12878	blood:	n/a	chr11:64578016-64578032
20	MAX	chr11:64577817-64578799	H1-hESC	embryonic stem cell:	n/a	chr11:64577872-64577882 chr11:64578551-64578560 chr11:64578547-64578562 chr11:64578551-64578558 chr11:64578550-64578561 chr11:64578550-64578561
21	PML	chr11:64577560-64578488	GM12878	blood:	n/a	n/a
22	RUNX3	chr11:64577820-64578445	GM12878	blood:	n/a	n/a
23	MYBL2	chr11:64577978-64578297	HepG2	liver:	n/a	n/a
24	MAX	chr11:64577813-64578707	MCF-7	breast:	n/a	chr11:64577872-64577882 chr11:64578551-64578560 chr11:64578547-64578562 chr11:64578551-64578558 chr11:64578550-64578561 chr11:64578550-64578561
25	CREB1	chr11:64577718-64578349	A549	lung:	n/a	n/a
26	CBX3	chr11:64577946-64578783	K562	blood:	n/a	n/a
27	SETDB1	chr11:64578274-64578758	U2OS	brain:	n/a	n/a
28	YY1	chr11:64577302-64578423	HepG2	liver:	n/a	chr11:64577590-64577604 chr11:64577866-64577880 chr11:64577871-64577880 chr11:64577596-64577605 chr11:64578014-64578028 chr11:64577582-64577591 chr11:64578099-64578110 chr11:64577854-64577873
29	RCOR1	chr11:64577831-64578421	Hela-S3	cervix:	n/a	n/a
30	CREB1	chr11:64577819-64578566	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:64577757-64578336	HUVEC	blood vessel:	n/a	n/a
32	ETS1	chr11:64577850-64578442	A549	lung:	n/a	chr11:64578080-64578093 chr11:64577871-64577882 chr11:64578236-64578249 chr11:64578041-64578054 chr11:64578078-64578089
33	JUND	chr11:64577779-64578411	A549	lung:	n/a	chr11:64577867-64577876
34	POLR2A	chr11:64577675-64578389	GM12892	blood:	n/a	n/a
35	TAL1	chr11:64578031-64578384	K562	blood:	n/a	n/a
36	SIX5	chr11:64577824-64578491	GM12878	blood:	n/a	chr11:64578263-64578277
37	POLR2A	chr11:64577719-64578327	K562	blood:	n/a	n/a
38	POLR2A	chr11:64577744-64578748	H1-hESC	embryonic stem cell:	n/a	n/a
39	SIX5	chr11:64577836-64578388	K562	blood:	n/a	chr11:64578263-64578277
40	MXI1	chr11:64577873-64578591	GM12878	blood:	n/a	n/a
41	GABPA	chr11:64577785-64578699	SK-N-SH	brain:	n/a	chr11:64577871-64577880 chr11:64578130-64578139
42	ELF1	chr11:64577367-64578643	HCT-116	colon:	n/a	chr11:64577590-64577602
43	ELF1	chr11:64577765-64578513	K562	blood:	n/a	n/a
44	FOXM1	chr11:64577884-64578550	GM12878	blood:	n/a	n/a
45	ZKSCAN1	chr11:64577893-64578658	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr11:64577832-64578321	PBDE	blood:	n/a	n/a
47	MXI1	chr11:64577847-64578485	Hela-S3	cervix:	n/a	n/a
48	TBP	chr11:64577944-64578621	H1-hESC	embryonic stem cell:	n/a	n/a
49	ELF1	chr11:64577870-64578537	A549	lung:	n/a	n/a
50	SP1	chr11:64577689-64578474	A549	lung:	n/a	chr11:64577869-64577881 chr11:64578053-64578066 chr11:64577871-64577880 chr11:64577870-64577880 chr11:64578050-64578062 chr11:64577870-64577879 chr11:64578051-64578060 chr11:64577870-64577879 chr11:64577870-64577880 chr11:64577869-64577881 chr11:64577870-64577884

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64578277-64578327	NH-A	brain:	n/a
2	chr11:64578277-64578327	GM12891	blood:	n/a
3	chr11:64578277-64578327	AoSMC	blood vessel:	n/a
4	chr11:64578277-64578327	SK-N-MC	brain:	n/a
5	chr11:64578277-64578327	HPAEpiC	pulmonary alveolar:	n/a
6	chr11:64578277-64578327	Jurkat	blood:	n/a
7	chr11:64578277-64578327	HRE	kidney:	n/a
8	chr11:64578277-64578327	HAEpiC	amniotic membrane:	n/a
9	chr11:64578277-64578327	GM06990	blood:	n/a
10	chr11:64578277-64578327	AG10803	skin:	n/a
11	chr11:64578277-64578327	Hepatocyte	liver:	n/a
12	chr11:64578277-64578327	U87	brain:	n/a
13	chr11:64578277-64578327	RPTEC	kidney:	n/a
14	chr11:64578277-64578327	Caco-2	colon:	n/a
15	chr11:64578277-64578327	AG09319	gingival:	n/a
16	chr11:64578277-64578327	GM12892	blood:	n/a
17	chr11:64578277-64578327	A549	lung:	n/a
18	chr11:64578277-64578327	HEK293	kidney:	embryo
19	chr11:64578277-64578327	HL-60	blood:	n/a
20	chr11:64578277-64578327	HEEpiC	esophagus:	n/a
21	chr11:64578277-64578327	HMEC	breast:	n/a
22	chr11:64578277-64578327	BJ	skin:	n/a
23	chr11:64578277-64578327	HIPEpiC	eye:	n/a
24	chr11:64578277-64578327	HUVEC	blood vessel:	n/a
25	chr11:64578277-64578327	CMK	blood:	n/a
26	chr11:64578277-64578327	PrEC	prostate:	n/a
27	chr11:64578277-64578327	HRPEpiC	eye:	n/a
28	chr11:64578277-64578327	SAEC	small airway:	n/a
29	chr11:64578277-64578327	HCT-116	colon:	n/a
30	chr11:64578277-64578327	AG04449	skin:	fetal
31	chr11:64578277-64578327	NHDF-neo	bronchial:	n/a
32	chr11:64578277-64578327	SKMC	muscle:	n/a
33	chr11:64578277-64578327	LNCaP	prostate:	n/a
34	chr11:64578277-64578327	MCF10A-Er-Src	breast:	n/a
35	chr11:64578277-64578327	ovcar-3	ovarian:	n/a
36	chr11:64578277-64578327	H1-hESC	embryonic stem cell:	embryo
37	chr11:64578277-64578327	HRCEpiC	kidney:	n/a
38	chr11:64578277-64578327	SK-N-SH	brain:	n/a
39	chr11:64578277-64578327	HNPCEpiC	eye:	n/a
40	chr11:64578277-64578327	NHBE	bronchial:	n/a
41	chr11:64578277-64578327	AG04450	lung:	fetal
42	chr11:64578277-64578327	HCM	heart:	n/a
43	chr11:64578277-64578327	GM19239	blood:	n/a
44	chr11:64578277-64578327	BE2_C	brain:	n/a
45	chr11:64578277-64578327	T-47D	breast:	n/a
46	chr11:64578277-64578327	HepG2	liver:	n/a
47	chr11:64578277-64578327	NT2-D1	testis:	n/a
48	chr11:64578277-64578327	PANC-1	pancreas:	n/a
49	chr11:64578277-64578327	ProgFib	skin:	n/a
50	chr11:64578277-64578327	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64578009..64579724-chr11:64644602..64647037,2	K562	blood:
2	chr11:64575575..64578460-chr11:64644399..64646025,3	MCF-7	breast:
3	chr11:64561801..64564643-chr11:64576528..64579219,3	MCF-7	breast:
4	chr11:64577984..64579530-chr11:64899937..64901907,3	K562	blood:
5	chr11:64574843..64581404-chr11:64607394..64613763,11	MCF-7	breast:
6	chr11:64575754..64580490-chr11:64608432..64614008,12	MCF-7	breast:
7	chr11:64576838..64579724-chr11:64644602..64648695,4	K562	blood:
8	chr11:64577011..64578912-chr11:64845908..64848474,2	K562	blood:
9	chr11:64543854..64548930-chr11:64577046..64580073,7	K562	blood:
10	chr11:64544159..64547610-chr11:64575495..64579776,5	K562	blood:
11	chr11:64073207..64075347-chr11:64577929..64579925,2	MCF-7	breast:
12	chr11:64543661..64548104-chr11:64572931..64579605,12	MCF-7	breast:
13	chr11:64576531..64579028-chr11:64877071..64879656,2	MCF-7	breast:
14	chr11:64575458..64578440-chr11:64655373..64657012,2	MCF-7	breast:

Variant related genes	Relation type
MEN1	TF binding region
MEN1	CpG island
ENSG00000110047	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000168066	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2959658	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
4	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
5	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak 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	1071 gene(s)	inside rSNPs	diseases
8	nsv468597	chr11:64477050-64584959	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv468598	chr11:64477050-64584959	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv555203	chr11:64477050-64584959	Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
11	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
12	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
13	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
14	nsv897702	chr11:64532579-64584231	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
15	nsv519478	chr11:64546391-64584987	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
16	nsv825949	chr11:64577366-64591157	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64576800-64578600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:64576800-64578600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:64576800-64578600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr11:64576800-64578600	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:64576800-64578600	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr11:64576800-64578600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr11:64576800-64578800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr11:64576800-64578800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:64577000-64578600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:64577200-64578400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:64577200-64578400	Active TSS	Fetal Lung	lung
12	chr11:64577200-64578600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:64577200-64578600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr11:64577200-64578600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr11:64577200-64578600	Active TSS	Fetal Kidney	kidney
16	chr11:64577200-64578800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr11:64577200-64578800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr11:64577200-64578800	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr11:64577200-64578800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr11:64577200-64578800	Active TSS	Rectal Smooth Muscle	rectum
21	chr11:64577200-64578800	Active TSS	HepG2	liver
22	chr11:64577400-64578400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:64577400-64578400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr11:64577400-64578400	Active TSS	Primary T cells from cord blood	blood
25	chr11:64577400-64578400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:64577400-64578400	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr11:64577400-64578400	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr11:64577400-64578400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:64577400-64578400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:64577400-64578400	Active TSS	Liver	Liver
31	chr11:64577400-64578400	Active TSS	Brain Angular Gyrus	brain
32	chr11:64577400-64578400	Active TSS	Brain Anterior Caudate	brain
33	chr11:64577400-64578400	Active TSS	Brain Cingulate Gyrus	brain
34	chr11:64577400-64578400	Active TSS	Brain Germinal Matrix	brain
35	chr11:64577400-64578400	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr11:64577400-64578400	Active TSS	Colon Smooth Muscle	Colon
37	chr11:64577400-64578400	Active TSS	Duodenum Mucosa	Duodenum
38	chr11:64577400-64578400	Active TSS	Fetal Brain Female	brain
39	chr11:64577400-64578400	Active TSS	Ovary	ovary
40	chr11:64577400-64578400	Active TSS	Small Intestine	intestine
41	chr11:64577400-64578400	Active TSS	GM12878-XiMat	blood
42	chr11:64577400-64578400	Active TSS	HSMMtube	muscle
43	chr11:64577400-64578400	Active TSS	K562	blood
44	chr11:64577400-64578400	Active TSS	NHEK	skin
45	chr11:64577400-64578600	Active TSS	H1 Cell Line	embryonic stem cell
46	chr11:64577400-64578600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:64577400-64578600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:64577400-64578600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:64577400-64578600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:64577400-64578600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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