Variant report

Variant	rs630585
Chromosome Location	chr11:64691581-64691582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:333)
CpG islands
(count:61)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:333 , 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	MYBL2	chr11:64691281-64692362	HepG2	liver:	n/a	n/a
2	RCOR1	chr11:64691397-64692184	HepG2	liver:	n/a	n/a
3	MAX	chr11:64691407-64692298	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:64691394-64692426	SK-N-MC	brain:	n/a	n/a
5	CTCF	chr11:64691580-64691730	MCF-7	breast:	n/a	n/a
6	GABPA	chr11:64691433-64692378	SK-N-SH	brain:	n/a	chr11:64692135-64692144
7	ATF3	chr11:64691397-64691854	H1-hESC	embryonic stem cell:	n/a	chr11:64691586-64691601
8	TEAD4	chr11:64691277-64692343	K562	blood:	n/a	n/a
9	MAX	chr11:64691324-64692406	A549	lung:	n/a	n/a
10	POLR2A	chr11:64691242-64692165	K562	blood:	n/a	n/a
11	MXI1	chr11:64691096-64693091	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr11:64691433-64691679	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr11:64691432-64692292	K562	blood:	n/a	chr11:64691586-64691601 chr11:64692100-64692114 chr11:64692061-64692070
14	MXI1	chr11:64691478-64692306	K562	blood:	n/a	n/a
15	STAT3	chr11:64691542-64691811	MCF10A-Er-Src	breast:	n/a	chr11:64691611-64691623
16	YY1	chr11:64691403-64692267	GM12878	blood:	n/a	n/a
17	PBX3	chr11:64691300-64692392	SK-N-SH	brain:	n/a	n/a
18	ZMIZ1	chr11:64691433-64692246	K562	blood:	n/a	n/a
19	FOSL2	chr11:64691390-64692074	MCF-7	breast:	n/a	chr11:64691692-64691703 chr11:64691589-64691598
20	POLR2A	chr11:64691447-64691864	HCT-116	colon:	n/a	n/a
21	RFX5	chr11:64691381-64692321	Hela-S3	cervix:	n/a	n/a
22	IRF4	chr11:64691380-64691893	GM12878	blood:	n/a	n/a
23	JUND	chr11:64691252-64692359	K562	blood:	n/a	chr11:64692348-64692357 chr11:64692349-64692358 chr11:64691691-64691702 chr11:64691589-64691598
24	JUND	chr11:64691296-64692325	T-47D	breast:	n/a	chr11:64691691-64691702 chr11:64691589-64691598
25	TCF12	chr11:64691424-64692277	A549	lung:	n/a	chr11:64692131-64692138 chr11:64692081-64692091 chr11:64692171-64692181
26	POU2F2	chr11:64691397-64692228	GM12891	blood:	n/a	n/a
27	TBP	chr11:64691528-64691855	HepG2	liver:	n/a	n/a
28	ELF1	chr11:64691376-64692312	SK-N-SH	brain:	n/a	chr11:64692206-64692218 chr11:64692292-64692304
29	MAZ	chr11:64691435-64692319	HepG2	liver:	n/a	n/a
30	CTCF	chr11:64691548-64691685	GM12878	blood:	n/a	n/a
31	TCF12	chr11:64691335-64692715	A549	lung:	n/a	chr11:64692131-64692138 chr11:64692081-64692091 chr11:64692171-64692181
32	ATF3	chr11:64691353-64692332	A549	lung:	n/a	chr11:64691586-64691601 chr11:64692100-64692114 chr11:64692061-64692070
33	CTCF	chr11:64691507-64691785	Lung_OC	lung:	n/a	n/a
34	ATF2	chr11:64691270-64692415	GM12878	blood:	n/a	chr11:64692097-64692111
35	MAX	chr11:64691442-64692340	Hela-S3	cervix:	n/a	n/a
36	YY1	chr11:64691418-64691897	ECC-1	luminal epithelium:	n/a	n/a
37	RCOR1	chr11:64691481-64692208	GM12878	blood:	n/a	n/a
38	PAX5	chr11:64691436-64692386	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:64691487-64691701	K562	blood:	n/a	n/a
40	SIN3AK20	chr11:64691379-64691781	SK-N-SH	brain:	n/a	n/a
41	RCOR1	chr11:64691467-64692286	K562	blood:	n/a	n/a
42	EP300	chr11:64691398-64692212	GM12878	blood:	n/a	n/a
43	POLR2A	chr11:64691531-64692280	GM12891	blood:	n/a	n/a
44	ETS1	chr11:64691340-64692351	A549	lung:	n/a	chr11:64691642-64691655 chr11:64692069-64692082 chr11:64692128-64692141 chr11:64691621-64691634
45	MAX	chr11:64691247-64692372	ECC-1	luminal epithelium:	n/a	n/a
46	SIN3AK20	chr11:64691461-64691821	H1-hESC	embryonic stem cell:	n/a	n/a
47	ETS1	chr11:64691508-64691776	K562	blood:	n/a	chr11:64691642-64691655 chr11:64691621-64691634
48	BATF	chr11:64691480-64691840	GM12878	blood:	n/a	chr11:64691587-64691600 chr11:64691693-64691704
49	MTA3	chr11:64691253-64692354	GM12878	blood:	n/a	n/a
50	CEBPB	chr11:64691415-64691781	IMR90	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64691547-64691597	ovcar-3	ovarian:	n/a
2	chr11:64691547-64691597	HIPEpiC	eye:	n/a
3	chr11:64691547-64691597	NHDF-neo	bronchial:	n/a
4	chr11:64691547-64691597	CMK	blood:	n/a
5	chr11:64691547-64691597	IMR90	lung:	fetal
6	chr11:64691547-64691597	BJ	skin:	n/a
7	chr11:64691547-64691597	Hepatocyte	liver:	n/a
8	chr11:64691547-64691597	AoSMC	blood vessel:	n/a
9	chr11:64691547-64691597	PrEC	prostate:	n/a
10	chr11:64691547-64691597	H1-hESC	embryonic stem cell:	embryo
11	chr11:64691547-64691597	NH-A	brain:	n/a
12	chr11:64691547-64691597	GM06990	blood:	n/a
13	chr11:64691547-64691597	K562	blood:	n/a
14	chr11:64691547-64691597	HRCEpiC	kidney:	n/a
15	chr11:64691547-64691597	NB4	blood:	n/a
16	chr11:64691547-64691597	HNPCEpiC	eye:	n/a
17	chr11:64691547-64691597	Jurkat	blood:	n/a
18	chr11:64691547-64691597	NHBE	bronchial:	n/a
19	chr11:64691547-64691597	HPAEpiC	pulmonary alveolar:	n/a
20	chr11:64691547-64691597	MCF10A-Er-Src	breast:	n/a
21	chr11:64691547-64691597	GM12878	blood:	n/a
22	chr11:64691547-64691597	HMEC	breast:	n/a
23	chr11:64691547-64691597	MCF-7	breast:	n/a
24	chr11:64691547-64691597	BE2_C	brain:	n/a
25	chr11:64691547-64691597	HRE	kidney:	n/a
26	chr11:64691547-64691597	GM12891	blood:	n/a
27	chr11:64691547-64691597	HCPEpiC	choroid plexus:	n/a
28	chr11:64691547-64691597	PFSK-1	brain:	n/a
29	chr11:64691547-64691597	A549	lung:	n/a
30	chr11:64691547-64691597	HCM	heart:	n/a
31	chr11:64691547-64691597	SK-N-SH	brain:	n/a
32	chr11:64691547-64691597	HUVEC	blood vessel:	n/a
33	chr11:64691547-64691597	SAEC	small airway:	n/a
34	chr11:64691547-64691597	GM12892	blood:	n/a
35	chr11:64691547-64691597	LNCaP	prostate:	n/a
36	chr11:64691547-64691597	AG04449	skin:	fetal
37	chr11:64691547-64691597	Hela-S3	cervix:	n/a
38	chr11:64691547-64691597	Caco-2	colon:	n/a
39	chr11:64691547-64691597	GM19239	blood:	n/a
40	chr11:64691547-64691597	HAEpiC	amniotic membrane:	n/a
41	chr11:64691547-64691597	ProgFib	skin:	n/a
42	chr11:64691547-64691597	HEK293	kidney:	embryo
43	chr11:64691547-64691597	HCT-116	colon:	n/a
44	chr11:64691547-64691597	AG04450	lung:	fetal
45	chr11:64691547-64691597	PANC-1	pancreas:	n/a
46	chr11:64691547-64691597	AG09319	gingival:	n/a
47	chr11:64691547-64691597	RPTEC	kidney:	n/a
48	chr11:64691547-64691597	SKMC	muscle:	n/a
49	chr11:64691547-64691597	AG10803	skin:	n/a
50	chr11:64691547-64691597	HCF	heart:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64683710..64686843-chr11:64689150..64693843,9	MCF-7	breast:
2	chr11:64644628..64647764-chr11:64688767..64693294,4	K562	blood:
3	chr11:64690425..64693604-chr11:64763571..64767241,5	K562	blood:
4	chr11:64691560..64693195-chr11:64879142..64881140,2	K562	blood:
5	chr11:64691517..64692236-chr19:13056765..13057625,2	Hela-S3	cervix:
6	chr11:64689194..64695395-chr11:64699461..64704301,10	K562	blood:
7	chr11:64691280..64693124-chr11:64764223..64766017,2	K562	blood:
8	chr11:64644764..64647368-chr11:64690531..64692792,2	K562	blood:
9	chr11:64656447..64658087-chr11:64690436..64693458,3	K562	blood:
10	chr11:64690400..64694324-chr11:64737120..64740822,5	K562	blood:
11	chr11:64691117..64693562-chr11:64726636..64728966,2	K562	blood:
12	chr11:64689263..64691666-chr11:64782887..64784487,2	K562	blood:
13	chr11:64545186..64547005-chr11:64690556..64693336,2	K562	blood:
14	chr11:64656447..64658087-chr11:64690436..64693410,2	K562	blood:
15	chr11:64680208..64683169-chr11:64690299..64692795,2	MCF-7	breast:
16	chr11:64689666..64692617-chr11:64726636..64729077,2	K562	blood:
17	chr11:64610201..64612402-chr11:64690717..64693183,2	MCF-7	breast:
18	chr11:64543505..64547238-chr11:64690556..64694712,4	K562	blood:
19	chr11:64683337..64686600-chr11:64690985..64694112,6	MCF-7	breast:
20	chr11:64691374..64695669-chr11:64701131..64705582,6	MCF-7	breast:
21	chr11:64644665..64646185-chr11:64690256..64692093,2	MCF-7	breast:

No data

Variant related genes	Relation type
PPP2R5B	TF binding region
PPP2R5B	CpG island
ENSG00000179262	Chromatin interaction
ENSG00000149735	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000168070	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000203400	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000168062	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000254501	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12293826	0.89[AMR][1000 genomes]
rs2904963	0.90[ASW][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs601047	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs601805	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs606412	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs606974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61740228	0.89[AMR][1000 genomes]
rs619328	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs628595	0.81[ASW][hapmap]
rs632555	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs635603	0.88[AFR][1000 genomes]
rs677805	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs684250	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7113740	0.89[AMR][1000 genomes]
rs7925178	0.85[YRI][hapmap]

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	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
2	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
3	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
4	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
5	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS 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	1028 gene(s)	inside rSNPs	diseases
6	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
9	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
10	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1029 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64690600-64691600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr11:64690600-64691600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr11:64690800-64691600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:64690800-64691600	Flanking Active TSS	Brain Angular Gyrus	brain
5	chr11:64690800-64691600	Enhancers	Lung	lung
6	chr11:64690800-64692200	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr11:64691000-64691600	Enhancers	Primary B cells from peripheral blood	blood
8	chr11:64691000-64691600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:64691000-64691600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr11:64691000-64691600	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr11:64691000-64691600	Flanking Active TSS	Brain Germinal Matrix	brain
12	chr11:64691000-64691600	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr11:64691000-64691600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr11:64691000-64691600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:64691000-64691600	Enhancers	Placenta	Placenta
16	chr11:64691000-64691600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr11:64691000-64691600	Enhancers	Spleen	Spleen
18	chr11:64691000-64691800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:64691000-64691800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:64691000-64692000	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr11:64691000-64692000	Flanking Active TSS	Hela-S3	cervix
22	chr11:64691000-64692200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:64691000-64692200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:64691000-64693000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:64691200-64691600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr11:64691200-64691600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:64691200-64691600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:64691200-64691600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:64691200-64691600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:64691200-64691600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:64691200-64691600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr11:64691200-64691600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr11:64691200-64691600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:64691200-64691600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:64691200-64691600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:64691200-64691600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:64691200-64691600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:64691200-64691600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:64691200-64691600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr11:64691200-64691600	Enhancers	Primary B cells from cord blood	blood
41	chr11:64691200-64691600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr11:64691200-64691600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:64691200-64691600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:64691200-64691600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:64691200-64691600	Flanking Active TSS	Liver	Liver
46	chr11:64691200-64691600	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr11:64691200-64691600	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr11:64691200-64691600	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr11:64691200-64691600	Flanking Active TSS	Fetal Brain Female	brain
50	chr11:64691200-64691600	Flanking Active TSS	Fetal Heart	heart

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