Variant report

Variant	rs4698
Chromosome Location	chr11:10328767-10328768
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	chr11:10325891-10330101	HCT-116	colon:	n/a	n/a
2	RAD21	chr11:10328762-10329930	IMR90	lung:	n/a	chr11:10329056-10329070 chr11:10329497-10329507 chr11:10329497-10329511 chr11:10329493-10329512
3	TBP	chr11:10328647-10329235	Hela-S3	cervix:	n/a	n/a
4	EP300	chr11:10328570-10330229	A549	lung:	n/a	chr11:10329713-10329729 chr11:10329461-10329477 chr11:10329189-10329205 chr11:10329189-10329198
5	RCOR1	chr11:10328764-10329875	Hela-S3	cervix:	n/a	n/a
6	MAX	chr11:10328758-10329963	H1-hESC	embryonic stem cell:	n/a	chr11:10329125-10329138 chr11:10329127-10329134 chr11:10329125-10329138 chr11:10329125-10329138 chr11:10329353-10329363 chr11:10329122-10329141
7	TCF12	chr11:10328619-10330171	A549	lung:	n/a	n/a
8	MAX	chr11:10328553-10330015	ECC-1	luminal epithelium:	n/a	chr11:10329125-10329138 chr11:10329127-10329134 chr11:10329125-10329138 chr11:10329125-10329138 chr11:10329353-10329363 chr11:10329122-10329141
9	JUND	chr11:10323956-10331669	HCT-116	colon:	n/a	chr11:10326447-10326456 chr11:10331225-10331234 chr11:10326563-10326572 chr11:10331227-10331234 chr11:10324905-10324915 chr11:10329473-10329484 chr11:10331226-10331235 chr11:10329705-10329717 chr11:10329705-10329716 chr11:10331226-10331234 chr11:10329706-10329716 chr11:10330671-10330679 chr11:10329707-10329715 chr11:10329706-10329716 chr11:10329706-10329716 chr11:10331224-10331235
10	ZBTB33	chr11:10328758-10329867	A549	lung:	n/a	n/a
11	SIN3AK20	chr11:10328196-10330113	HCT-116	colon:	n/a	n/a
12	TAF7	chr11:10324386-10331444	H1-hESC	embryonic stem cell:	n/a	n/a
13	SP1	chr11:10328641-10330146	HCT-116	colon:	n/a	n/a
14	RAD21	chr11:10328713-10330172	HCT-116	colon:	n/a	chr11:10329056-10329070 chr11:10329497-10329507 chr11:10329497-10329511 chr11:10329493-10329512
15	HEY1	chr11:10325910-10331758	HepG2	liver:	n/a	chr11:10327166-10327181 chr11:10329744-10329759 chr11:10326566-10326581 chr11:10329041-10329056
16	MYC	chr11:10328684-10329810	MCF10A-Er-Src	breast:	n/a	chr11:10329125-10329138 chr11:10329127-10329134 chr11:10329125-10329138 chr11:10329125-10329138 chr11:10329353-10329363 chr11:10329122-10329141
17	POLR2A	chr11:10328716-10330249	HUVEC	blood vessel:	n/a	n/a
18	USF1	chr11:10328716-10329936	A549	lung:	n/a	n/a
19	POLR2A	chr11:10328489-10330152	HUVEC	blood vessel:	n/a	n/a
20	FOS	chr11:10328749-10329101	HUVEC	blood vessel:	n/a	chr11:10328939-10328950
21	RAD21	chr11:10325502-10330565	SK-N-SH	brain:	n/a	chr11:10326951-10326963 chr11:10329056-10329070 chr11:10329497-10329507 chr11:10329497-10329511 chr11:10329493-10329512 chr11:10326172-10326182
22	MAX	chr11:10328746-10329965	MCF-7	breast:	n/a	chr11:10329125-10329138 chr11:10329127-10329134 chr11:10329125-10329138 chr11:10329125-10329138 chr11:10329353-10329363 chr11:10329122-10329141
23	POLR2A	chr11:10328746-10328846	A549	lung:	n/a	n/a
24	MAX	chr11:10328666-10329886	A549	lung:	n/a	chr11:10329125-10329138 chr11:10329127-10329134 chr11:10329125-10329138 chr11:10329125-10329138 chr11:10329353-10329363 chr11:10329122-10329141
25	SMARCB1	chr11:10326042-10329945	Hela-S3	cervix:	n/a	chr11:10329706-10329715
26	SIN3AK20	chr11:10328644-10330268	PANC-1	pancreas:	n/a	n/a
27	RAD21	chr11:10328766-10330066	A549	lung:	n/a	chr11:10329056-10329070 chr11:10329497-10329507 chr11:10329497-10329511 chr11:10329493-10329512
28	POLR2A	chr11:10323851-10331424	HCT-116	colon:	n/a	n/a
29	MXI1	chr11:10328731-10329778	H1-hESC	embryonic stem cell:	n/a	n/a
30	BCL3	chr11:10328642-10331441	A549	lung:	n/a	chr11:10331226-10331235 chr11:10331174-10331181 chr11:10331225-10331234 chr11:10329188-10329201 chr11:10329188-10329201
31	FOS	chr11:10328682-10329103	MCF10A-Er-Src	breast:	n/a	chr11:10328939-10328950
32	POLR2A	chr11:10323816-10331549	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:10328513-10330345	Hela-S3	cervix:	n/a	n/a
34	ATF2	chr11:10326418-10331473	H1-hESC	embryonic stem cell:	n/a	n/a
35	BRCA1	chr11:10328549-10329851	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:10328698-10331394	H1-hESC	embryonic stem cell:	n/a	n/a
37	FOSL1	chr11:10328516-10331731	HCT-116	colon:	n/a	chr11:10331225-10331234 chr11:10331227-10331234 chr11:10329473-10329484 chr11:10331226-10331235 chr11:10329705-10329717 chr11:10331226-10331234 chr11:10329706-10329716 chr11:10330671-10330679 chr11:10329705-10329716 chr11:10329707-10329715 chr11:10329706-10329716 chr11:10329706-10329716
38	POLR2A	chr11:10325942-10330999	HUVEC	blood vessel:	n/a	n/a
39	SIN3AK20	chr11:10323807-10331742	HCT-116	colon:	n/a	n/a
40	SIN3AK20	chr11:10328302-10330355	A549	lung:	n/a	n/a
41	TFAP2C	chr11:10328754-10329907	Hela-S3	cervix:	n/a	n/a
42	MAX	chr11:10323478-10330100	A549	lung:	n/a	chr11:10329125-10329138 chr11:10325336-10325345 chr11:10329127-10329134 chr11:10329125-10329138 chr11:10329125-10329138 chr11:10326516-10326525 chr11:10329353-10329363 chr11:10329122-10329141 chr11:10327866-10327876 chr11:10324414-10324425
43	POLR2A	chr11:10328410-10332500	IMR90	lung:	n/a	n/a
44	RAD21	chr11:10328723-10329916	Hela-S3	cervix:	n/a	chr11:10329056-10329070 chr11:10329497-10329507 chr11:10329497-10329511 chr11:10329493-10329512
45	POLR2A	chr11:10328679-10330302	HUVEC	blood vessel:	n/a	n/a
46	CHD1	chr11:10322517-10331634	IMR90	lung:	n/a	chr11:10327760-10327770 chr11:10327860-10327870 chr11:10326455-10326465 chr11:10326448-10326458
47	CREB1	chr11:10328748-10329984	A549	lung:	n/a	n/a
48	TCF12	chr11:10328743-10330177	ECC-1	luminal epithelium:	n/a	n/a
49	MAX	chr11:10328757-10329863	H1-hESC	embryonic stem cell:	n/a	chr11:10329125-10329138 chr11:10329127-10329134 chr11:10329125-10329138 chr11:10329125-10329138 chr11:10329353-10329363 chr11:10329122-10329141
50	ZBTB33	chr11:10328668-10329087	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:10314422..10317147-chr11:10327890..10331590,5	MCF-7	breast:
2	chr11:10328566..10329451-chr16:680191..681167,2	Hela-S3	cervix:
3	chr11:10327968..10329766-chr11:10387274..10390130,2	K562	blood:
4	chr11:9777333..9782154-chr11:10324598..10331360,10	MCF-7	breast:
5	chr11:10203351..10204041-chr11:10328716..10329800,3	MCF-7	breast:
6	chr11:9807314..9809632-chr11:10328158..10330110,2	K562	blood:
7	chr11:10075330..10076970-chr11:10327366..10329414,2	MCF-7	breast:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000254554	TF binding region
ENSG00000245522	Chromatin interaction
ENSG00000133812	Chromatin interaction
ENSG00000246273	Chromatin interaction
ENSG00000127578	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11825257	1.00[YRI][hapmap]
rs55796000	1.00[AMR][1000 genomes]
rs56013107	1.00[AMR][1000 genomes]
rs56962991	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57197571	1.00[AMR][1000 genomes]
rs57361167	1.00[AMR][1000 genomes]
rs57428208	1.00[AMR][1000 genomes]
rs57616147	1.00[AMR][1000 genomes]
rs57626581	1.00[AMR][1000 genomes]
rs57644762	1.00[AMR][1000 genomes]
rs57895857	1.00[AMR][1000 genomes]
rs59076108	1.00[AMR][1000 genomes]
rs59107366	1.00[AMR][1000 genomes]
rs59168644	1.00[AMR][1000 genomes]
rs59505179	1.00[AMR][1000 genomes]
rs59869332	1.00[AMR][1000 genomes]
rs60837023	1.00[AMR][1000 genomes]
rs61291463	1.00[AMR][1000 genomes]
rs73403912	1.00[AMR][1000 genomes]
rs73412842	1.00[AMR][1000 genomes]
rs73412867	1.00[AMR][1000 genomes]
rs73412871	1.00[AMR][1000 genomes]
rs73412874	1.00[AMR][1000 genomes]
rs73412879	1.00[AMR][1000 genomes]
rs73412887	1.00[AMR][1000 genomes]
rs73412902	1.00[AMR][1000 genomes]
rs73415005	1.00[AMR][1000 genomes]
rs73415007	1.00[AMR][1000 genomes]
rs73415034	1.00[AMR][1000 genomes]
rs73415036	1.00[AMR][1000 genomes]
rs73415093	1.00[AMR][1000 genomes]
rs73415101	1.00[AMR][1000 genomes]
rs73416903	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10323200-10329800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr11:10323200-10330200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr11:10323600-10330000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:10323800-10329000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:10323800-10329600	Active TSS	Placenta Amnion	Placenta Amnion
6	chr11:10323800-10330000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:10323800-10330000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
8	chr11:10323800-10330200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:10324000-10329200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr11:10324000-10329800	Active TSS	Aorta	Aorta
11	chr11:10324000-10330000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
12	chr11:10324000-10330000	Active TSS	Psoas Muscle	Psoas
13	chr11:10324000-10330200	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr11:10324200-10329800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr11:10324200-10329800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:10324200-10329800	Active TSS	Gastric	stomach
17	chr11:10324400-10329800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:10324600-10329800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:10324800-10330000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
20	chr11:10325200-10329000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:10325400-10329800	Active TSS	HSMMtube	muscle
22	chr11:10325600-10330000	Active TSS	Right Atrium	heart
23	chr11:10326000-10330000	Active TSS	Ovary	ovary
24	chr11:10326200-10329800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:10326600-10329000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
26	chr11:10326600-10329000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
27	chr11:10326600-10329000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:10326600-10329200	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr11:10326600-10329800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:10326600-10329800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:10326600-10330400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:10326800-10329200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
33	chr11:10326800-10330000	Bivalent Enhancer	Fetal Brain Male	brain
34	chr11:10326800-10330400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:10326800-10330400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
36	chr11:10326800-10330800	Transcr. at gene 5' and 3'	NHLF	lung
37	chr11:10327000-10329200	Weak transcription	K562	blood
38	chr11:10327200-10329000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:10327200-10329000	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
40	chr11:10327200-10329000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
41	chr11:10327200-10329000	Transcr. at gene 5' and 3'	Osteobl	bone
42	chr11:10327200-10329200	Transcr. at gene 5' and 3'	A549	lung
43	chr11:10327200-10329400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:10327200-10329800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:10327200-10330000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:10327400-10328800	Transcr. at gene 5' and 3'	Placenta	Placenta
47	chr11:10327400-10328800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr11:10327400-10329000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:10327400-10329000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
50	chr11:10327400-10329200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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