Variant report

Variant	rs543231292
Chromosome Location	chr11:64122529-64122530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:136)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:136 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:64122514-64122920	ECC-1	luminal epithelium:	n/a	n/a
2	GABPA	chr11:64122510-64122918	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr11:64122458-64122949	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr11:64122506-64123055	IMR90	lung:	n/a	n/a
5	GABPA	chr11:64122515-64122938	A549	lung:	n/a	n/a
6	JUND	chr11:64122529-64123078	A549	lung:	n/a	chr11:64122781-64122792
7	TFAP2C	chr11:64122527-64123277	Hela-S3	cervix:	n/a	chr11:64122793-64122808
8	POU2F2	chr11:64122447-64122903	GM12878	blood:	n/a	n/a
9	MAX	chr11:64122472-64123004	ECC-1	luminal epithelium:	n/a	n/a
10	FOSL1	chr11:64122521-64123070	K562	blood:	n/a	chr11:64122781-64122792
11	SP1	chr11:64122394-64123102	A549	lung:	n/a	n/a
12	JUN	chr11:64122341-64123402	K562	blood:	n/a	n/a
13	NR3C1	chr11:64122499-64123049	A549	lung:	n/a	n/a
14	ELF1	chr11:64122235-64123156	GM12878	blood:	n/a	n/a
15	JUND	chr11:64122414-64123171	MCF-7	breast:	n/a	chr11:64122781-64122792
16	CEBPD	chr11:64122473-64122863	HepG2	liver:	n/a	n/a
17	TFAP2A	chr11:64122526-64123206	Hela-S3	cervix:	n/a	n/a
18	TCF12	chr11:64122396-64123085	ECC-1	luminal epithelium:	n/a	n/a
19	RAD21	chr11:64122511-64122927	GM12878	blood:	n/a	n/a
20	MAX	chr11:64122447-64123230	A549	lung:	n/a	n/a
21	HDAC2	chr11:64122499-64123057	K562	blood:	n/a	n/a
22	RAD21	chr11:64122513-64122909	GM12878	blood:	n/a	n/a
23	MYBL2	chr11:64122472-64123082	HepG2	liver:	n/a	n/a
24	MAX	chr11:64122462-64122964	H1-hESC	embryonic stem cell:	n/a	n/a
25	YY1	chr11:64122522-64123114	A549	lung:	n/a	n/a
26	FOSL2	chr11:64122519-64123118	MCF-7	breast:	n/a	chr11:64122782-64122793
27	ELF1	chr11:64122238-64123265	K562	blood:	n/a	n/a
28	RAD21	chr11:64122438-64122894	H1-hESC	embryonic stem cell:	n/a	n/a
29	SMC3	chr11:64122458-64123117	K562	blood:	n/a	n/a
30	NR2F2	chr11:64122481-64123363	K562	blood:	n/a	n/a
31	SMC3	chr11:64122472-64123131	Hela-S3	cervix:	n/a	n/a
32	RAD21	chr11:64122415-64123089	MCF-7	breast:	n/a	n/a
33	RAD21	chr11:64122503-64122989	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr11:64122448-64122569	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr11:64122482-64122981	K562	blood:	n/a	n/a
36	CTCF	chr11:64122481-64122929	T-47D	breast:	n/a	n/a
37	MAX	chr11:64122453-64123027	NB4	blood:	n/a	n/a
38	RAD21	chr11:64122339-64123103	ECC-1	luminal epithelium:	n/a	n/a
39	ZBTB7A	chr11:64122300-64123055	ECC-1	luminal epithelium:	n/a	n/a
40	RAD21	chr11:64122510-64123015	HepG2	liver:	n/a	n/a
41	FOSL2	chr11:64122493-64123020	HepG2	liver:	n/a	chr11:64122782-64122793
42	SMARCB1	chr11:64122496-64123069	Hela-S3	cervix:	n/a	n/a
43	NFIC	chr11:64122524-64122994	HepG2	liver:	n/a	n/a
44	SIX5	chr11:64122438-64122978	A549	lung:	n/a	n/a
45	RAD21	chr11:64122402-64123101	H1-hESC	embryonic stem cell:	n/a	n/a
46	RAD21	chr11:64122321-64123105	A549	lung:	n/a	n/a
47	CTCF	chr11:64122460-64123274	HCT-116	colon:	n/a	n/a
48	NR2F2	chr11:64122512-64123061	MCF-7	breast:	n/a	n/a
49	CTCF	chr11:64122470-64122985	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZBTB7A	chr11:64122508-64122986	HepG2	liver:	n/a	n/a

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64083996..64085045-chr11:64122370..64123374,3	MCF-7	breast:
2	chr11:64018758..64019464-chr11:64122319..64123422,3	K562	blood:
3	chr11:63972047..63977847-chr11:64122012..64128099,8	K562	blood:
4	chr11:64085446..64086052-chr11:64122259..64122861,3	K562	blood:
5	chr11:64013318..64016582-chr11:64121712..64124866,3	MCF-7	breast:
6	chr11:64108620..64111741-chr11:64119418..64122798,4	MCF-7	breast:
7	chr11:64082853..64088243-chr11:64119014..64129028,17	MCF-7	breast:
8	chr11:64051486..64055490-chr11:64121214..64124233,3	MCF-7	breast:
9	chr11:64081246..64082787-chr11:64121396..64124105,2	K562	blood:
10	chr11:64084196..64085100-chr11:64122250..64123142,2	K562	blood:
11	chr11:64085156..64086417-chr11:64121827..64123266,8	MCF-7	breast:
12	chr11:64067348..64069448-chr11:64121257..64124209,2	K562	blood:
13	chr11:64119430..64124364-chr11:64124831..64128743,7	MCF-7	breast:
14	chr11:64071691..64076218-chr11:64119080..64123328,5	MCF-7	breast:
15	chr11:64109671..64110552-chr11:64122307..64123186,2	K562	blood:
16	chr11:64122273..64122886-chr11:64216141..64216666,2	K562	blood:
17	chr11:64111304..64115119-chr11:64121660..64123596,3	MCF-7	breast:
18	chr11:64038885..64039522-chr11:64122350..64122916,2	MCF-7	breast:
19	chr11:64053599..64055406-chr11:64121641..64123731,2	K562	blood:
20	chr11:64122365..64123400-chr11:64216043..64217247,4	MCF-7	breast:
21	chr11:64083913..64086967-chr11:64122125..64127376,8	MCF-7	breast:
22	chr11:64109688..64110714-chr11:64122196..64123136,4	MCF-7	breast:
23	chr11:64085427..64086263-chr11:64122198..64123128,2	MCF-7	breast:
24	chr11:64052517..64054991-chr11:64119891..64124085,3	K562	blood:
25	chr11:63995120..63997968-chr11:64121307..64123121,2	K562	blood:
26	chr11:64106209..64107766-chr11:64119904..64122675,2	MCF-7	breast:
27	chr11:63972384..63977847-chr11:64121311..64126015,8	K562	blood:
28	chr11:64007008..64012234-chr11:64122125..64125548,6	K562	blood:

No data

Variant related genes	Relation type
RPS6KA4	TF binding region
CCDC88B	TF binding region
ENSG00000126432	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000162302	Chromatin interaction
ENSG00000149761	Chromatin interaction
ENSG00000256940	Chromatin interaction
ENSG00000173457	Chromatin interaction
ENSG00000219435	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000149781	Chromatin interaction
ENSG00000002330	Chromatin interaction
ENSG00000181908	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000110011	Chromatin interaction
ENSG00000149782	Chromatin interaction
ENSG00000173113	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
6	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
7	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
8	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer 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 miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
10	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
11	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
12	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
13	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
14	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers 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	164 gene(s)	inside rSNPs	diseases
15	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
16	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
17	nsv818840	chr11:64097233-64125142	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
18	nsv818841	chr11:64097233-64129722	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
19	nsv897688	chr11:64107735-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
20	nsv897689	chr11:64109118-64148420	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
21	nsv897690	chr11:64118422-64135298	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
22	nsv897691	chr11:64118422-64137875	Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
23	esv3343139	chr11:64121226-64123624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
24	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64110200-64125000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:64110200-64125200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr11:64110800-64122800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:64110800-64123400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:64111000-64122600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:64111000-64124200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:64111000-64125000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:64111400-64122600	Weak transcription	Gastric	stomach
9	chr11:64111800-64125000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:64112000-64125000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:64113800-64125000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:64115400-64125600	Weak transcription	GM12878-XiMat	blood
13	chr11:64115800-64125000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:64116600-64122600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:64116800-64122800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:64116800-64124400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:64118400-64123200	Enhancers	Fetal Muscle Leg	muscle
18	chr11:64119000-64123200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:64119400-64123200	Strong transcription	Thymus	Thymus
20	chr11:64120200-64123600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:64121000-64123200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:64121200-64122600	Weak transcription	HSMM	muscle
23	chr11:64121200-64122800	Enhancers	Pancreas	Pancrea
24	chr11:64121200-64122800	Weak transcription	HSMMtube	muscle
25	chr11:64121200-64123200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:64121200-64123200	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr11:64121400-64122800	Enhancers	Primary B cells from cord blood	blood
28	chr11:64121400-64124000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:64121600-64122600	Genic enhancers	Monocytes-CD14+_RO01746	blood
30	chr11:64121600-64123200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr11:64121600-64123200	Genic enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:64121600-64123400	Genic enhancers	Primary B cells from peripheral blood	blood
33	chr11:64121600-64124600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:64121800-64122800	Enhancers	Right Ventricle	heart
35	chr11:64121800-64123200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:64121800-64123200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:64121800-64123400	Enhancers	Fetal Intestine Small	intestine
38	chr11:64121800-64126000	Enhancers	Placenta	Placenta
39	chr11:64122000-64122600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr11:64122000-64122600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:64122000-64122800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:64122000-64123200	Strong transcription	Spleen	Spleen
43	chr11:64122000-64123400	Enhancers	Fetal Stomach	stomach
44	chr11:64122000-64124800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:64122000-64126000	Enhancers	Fetal Muscle Trunk	muscle
46	chr11:64122200-64122600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:64122200-64122600	Enhancers	Stomach Mucosa	stomach
48	chr11:64122200-64122600	Flanking Active TSS	HepG2	liver
49	chr11:64122200-64122800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:64122200-64122800	Enhancers	NHEK	skin

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